#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	95861807	95861807	+	Silent	SNP	C	C	A			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr13:95861807C>A	ENST00000376887.4	-	6	780	c.666G>T	c.(664-666)gcG>gcT	p.A222A	ABCC4_ENST00000536256.1_Silent_p.A147A|snoU13_ENST00000459449.1_RNA|ABCC4_ENST00000431522.1_Silent_p.A222A|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Silent_p.A222A	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	222	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	TCACTGCAATCGCCTGCAGTG	0.478																																						dbGAP											0													95.0	80.0	85.0					13																	95861807		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.666G>T	13.37:g.95861807C>A			A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM	p.A222	ENST00000376887.4	37	c.666	CCDS9474.1	13																																																																																			ABCC4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM	ENSG00000125257		0.478	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	19	0.00	0	C	NM_005845		95861807	95861807	-1	no_errors	ENST00000376887	ensembl	human	known	69_37n	silent	41	45.33	34	SNP	0.000	A
ATAD2B	54454	genome.wustl.edu	37	2	23980928	23980928	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr2:23980928T>A	ENST00000238789.5	-	25	3781	c.3438A>T	c.(3436-3438)aaA>aaT	p.K1146N	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1146						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATAATTCCTTTACCCCACT	0.343																																						dbGAP											0													50.0	48.0	49.0					2																	23980928		1812	4077	5889	-	-	-	SO:0001583	missense	0			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.3438A>T	2.37:g.23980928T>A	ENSP00000238789:p.Lys1146Asn		B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.K1146N	ENST00000238789.5	37	c.3438	CCDS46227.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.33|11.33	1.607104|1.607104	0.28623|0.28623	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000381024|ENST00000238789;ENST00000546030	T|D	0.25250|0.91843	1.81|-2.92	5.75|5.75	4.58|4.58	0.56647|0.56647	.|.	0.462099|0.462099	0.24067|0.24067	N|N	0.041842|0.041842	D|D	0.82646|0.82646	0.5082|0.5082	N|N	0.14661|0.14661	0.345|0.345	0.39625|0.39625	D|D	0.970088|0.970088	.|P;P	.|0.47106	.|0.824;0.89	.|B;B	.|0.41764	.|0.201;0.366	T|T	0.80491|0.80491	-0.1359|-0.1359	8|10	0.51188|0.15066	T|T	0.08|0.55	.|.	9.7341|9.7341	0.40377|0.40377	0.0:0.1358:0.0:0.8642|0.0:0.1358:0.0:0.8642	.|.	.|1146;1141	.|Q9ULI0;Q9ULI0-2	.|ATD2B_HUMAN;.	M|N	422|1146;314	ENSP00000370412:K422M|ENSP00000238789:K1146N	ENSP00000370412:K422M|ENSP00000238789:K1146N	K|K	-|-	2|3	0|2	ATAD2B|ATAD2B	23834432|23834432	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.268000|2.268000	0.43338|0.43338	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	AAG|AAA	ATAD2B	-	NULL	ENSG00000119778		0.343	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	ATAD2B	HGNC	protein_coding	OTTHUMT00000324333.1	26	0.00	0	T	NM_017552		23980928	23980928	-1	no_errors	ENST00000238789	ensembl	human	known	69_37n	missense	74	18.68	17	SNP	1.000	A
AFF3	3899	genome.wustl.edu	37	2	100194863	100194863	+	Silent	SNP	C	C	T			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr2:100194863C>T	ENST00000409236.2	-	16	2956	c.2844G>A	c.(2842-2844)ccG>ccA	p.P948P	AFF3_ENST00000409579.1_Silent_p.P973P|AFF3_ENST00000356421.2_Silent_p.P973P|AFF3_ENST00000317233.4_Silent_p.P948P			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	948					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCTTCGTCTGCGGCCGTGACT	0.483																																						dbGAP											0													129.0	135.0	133.0					2																	100194863		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2844G>A	2.37:g.100194863C>T			B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	pfam_TF_AF4/FMR2	p.P973	ENST00000409236.2	37	c.2919	CCDS42723.1	2																																																																																			AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.483	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	61	0.00	0	C	NM_002285		100194863	100194863	-1	no_errors	ENST00000356421	ensembl	human	known	69_37n	silent	115	30.95	52	SNP	0.649	T
ACVR2A	92	genome.wustl.edu	37	2	148676044	148676044	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr2:148676044A>T	ENST00000241416.7	+	7	1481	c.845A>T	c.(844-846)aAt>aTt	p.N282I	ACVR2A_ENST00000404590.1_Missense_Mutation_p.N282I|ACVR2A_ENST00000535787.1_Missense_Mutation_p.N174I	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CTTAAGGCTAATGTGGTCTCT	0.368																																						dbGAP											0													122.0	120.0	121.0					2																	148676044		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.845A>T	2.37:g.148676044A>T	ENSP00000241416:p.Asn282Ile		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.N282I	ENST00000241416.7	37	c.845	CCDS33301.1	2	.	.	.	.	.	.	.	.	.	.	A	27.4	4.824260	0.90955	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.94138	-3.36;-3.36;-3.36	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95557	0.8556	L	0.52823	1.66	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	D	0.96084	0.9056	10	0.87932	D	0	.	15.4047	0.74868	1.0:0.0:0.0:0.0	.	282	P27037	AVR2A_HUMAN	I	282;174;282	ENSP00000241416:N282I;ENSP00000439988:N174I;ENSP00000384338:N282I	ENSP00000241416:N282I	N	+	2	0	ACVR2A	148392514	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.051000	0.60960	0.460000	0.39030	AAT	ACVR2A	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000121989		0.368	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	96	0.00	0	A	NM_001616		148676044	148676044	+1	no_errors	ENST00000241416	ensembl	human	known	69_37n	missense	192	28.09	75	SNP	1.000	T
ATG2B	55102	genome.wustl.edu	37	14	96777942	96777942	+	Silent	SNP	C	C	A			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr14:96777942C>A	ENST00000359933.4	-	27	4820	c.3927G>T	c.(3925-3927)gtG>gtT	p.V1309V	ATG2B_ENST00000261834.5_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1309					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CCATATCCATCACACGAACAT	0.318																																						dbGAP											0													45.0	48.0	47.0					14																	96777942		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3927G>T	14.37:g.96777942C>A			Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	pfam_Autophagy-rel_C	p.V1309	ENST00000359933.4	37	c.3927	CCDS9944.2	14																																																																																			ATG2B	-	NULL	ENSG00000066739		0.318	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	52	0.00	0	C	NM_018036		96777942	96777942	-1	no_errors	ENST00000359933	ensembl	human	known	69_37n	silent	67	17.28	14	SNP	1.000	A
BATF3	55509	genome.wustl.edu	37	1	212860284	212860284	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr1:212860284C>T	ENST00000243440.1	-	3	455	c.233G>A	c.(232-234)cGg>cAg	p.R78Q	BATF3_ENST00000478275.1_5'UTR	NM_018664.2	NP_061134.1	Q9NR55	BATF3_HUMAN	basic leucine zipper transcription factor, ATF-like 3	78	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				dendritic cell differentiation (GO:0097028)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R78L(1)		endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781)		GATCTCTCTCCGCAGCATGGT	0.547																																						dbGAP											1	Substitution - Missense(1)	lung(1)											171.0	167.0	168.0					1																	212860284		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF255346	CCDS1508.1	1q32.3	2013-01-10			ENSG00000123685	ENSG00000123685		"""basic leucine zipper proteins"""	28915	protein-coding gene	gene with protein product	"""Jun dimerization protein 1"""	612470				10878360, 12087103	Standard	NM_018664		Approved	JUNDM1, SNFT, JDP1	uc001hjl.2	Q9NR55	OTTHUMG00000036807	ENST00000243440.1:c.233G>A	1.37:g.212860284C>T	ENSP00000243440:p.Arg78Gln			Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,prints_Leuzip_Fos,pfscan_bZIP	p.R78Q	ENST00000243440.1	37	c.233	CCDS1508.1	1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506072	0.64410	.	.	ENSG00000123685	ENST00000243440	T	0.58358	0.34	5.41	5.41	0.78517	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.074851	0.48767	D	0.000167	T	0.58935	0.2157	L	0.49699	1.58	0.39276	D	0.964473	D	0.76494	0.999	D	0.68353	0.957	T	0.56511	-0.7967	10	0.10636	T	0.68	1.6093	8.7435	0.34571	0.0:0.8661:0.0:0.1339	.	78	Q9NR55	BATF3_HUMAN	Q	78	ENSP00000243440:R78Q	ENSP00000243440:R78Q	R	-	2	0	BATF3	210926907	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	2.878000	0.48515	2.529000	0.85273	0.655000	0.94253	CGG	BATF3	-	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,prints_Leuzip_Fos,pfscan_bZIP	ENSG00000123685		0.547	BATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BATF3	HGNC	protein_coding	OTTHUMT00000089403.1	57	0.00	0	C	NM_018664		212860284	212860284	-1	no_errors	ENST00000243440	ensembl	human	known	69_37n	missense	149	21.99	42	SNP	1.000	T
FANCD2OS	115795	genome.wustl.edu	37	3	10146113	10146113	+	Missense_Mutation	SNP	C	C	T	rs201914454		TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr3:10146113C>T	ENST00000450660.2	-	2	562	c.346G>A	c.(346-348)Ggg>Agg	p.G116R	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.G116R	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	116																	CTGAAAGTCCCGGTCCACTTT	0.517																																						dbGAP											0													144.0	135.0	138.0					3																	10146113		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 24"""	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.346G>A	3.37:g.10146113C>T	ENSP00000429608:p.Gly116Arg			Missense_Mutation	SNP	NULL	p.G116R	ENST00000450660.2	37	c.346	CCDS2596.1	3	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327645	0.81690	.	.	ENSG00000163705	ENST00000524279;ENST00000450660	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.61337	0.2339	L	0.29908	0.895	0.49687	D	0.999817	D	0.76494	0.999	P	0.56042	0.79	T	0.64888	-0.6301	9	0.72032	D	0.01	.	16.9439	0.86225	0.0:1.0:0.0:0.0	.	116	Q96PS1	CC024_HUMAN	R	116	.	ENSP00000429608:G116R	G	-	1	0	C3orf24	10121113	0.999000	0.42202	0.995000	0.50966	0.965000	0.64279	4.627000	0.61276	2.608000	0.88229	0.650000	0.86243	GGG	C3orf24	-	NULL	ENSG00000163705		0.517	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf24	HGNC	protein_coding	OTTHUMT00000339891.2	75	0.00	0	C	NM_173472		10146113	10146113	-1	no_errors	ENST00000450660	ensembl	human	known	69_37n	missense	100	40.24	68	SNP	0.996	T
C7orf57	136288	genome.wustl.edu	37	7	48080992	48080992	+	Silent	SNP	C	C	T			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr7:48080992C>T	ENST00000348904.3	+	3	329	c.117C>T	c.(115-117)tcC>tcT	p.S39S	C7orf57_ENST00000420324.1_Silent_p.S84S|C7orf57_ENST00000430738.1_Silent_p.S84S|C7orf57_ENST00000539619.1_Silent_p.S39S|C7orf57_ENST00000435376.1_5'UTR	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	39										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CACCAGCGTCCCAGATCCCAG	0.542																																						dbGAP											0													53.0	57.0	55.0					7																	48080992		1919	4146	6065	-	-	-	SO:0001819	synonymous_variant	0			BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.117C>T	7.37:g.48080992C>T			C9JBJ8	Silent	SNP	NULL	p.S39	ENST00000348904.3	37	c.117	CCDS47583.1	7																																																																																			C7orf57	-	NULL	ENSG00000164746		0.542	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf57	HGNC	protein_coding	OTTHUMT00000341745.1	25	0.00	0	C	NM_001100159		48080992	48080992	+1	no_errors	ENST00000348904	ensembl	human	known	69_37n	silent	33	19.51	8	SNP	0.994	T
CFH	3075	genome.wustl.edu	37	1	196696041	196696041	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr1:196696041G>C	ENST00000367429.4	+	14	2447	c.2207G>C	c.(2206-2208)gGa>gCa	p.G736A		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	736	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.G736V(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGTATTCATGGAGTATGGACC	0.353																																						dbGAP											1	Substitution - Missense(1)	lung(1)											101.0	100.0	100.0					1																	196696041		2203	4299	6502	-	-	-	SO:0001583	missense	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2207G>C	1.37:g.196696041G>C	ENSP00000356399:p.Gly736Ala		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G736A	ENST00000367429.4	37	c.2207	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591318	0.46214	.	.	ENSG00000000971	ENST00000367429	T	0.71817	-0.6	5.6	5.6	0.85130	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.87030	0.6076	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88984	0.3410	9	0.59425	D	0.04	.	15.1081	0.72336	0.0:0.0:1.0:0.0	.	736	P08603	CFAH_HUMAN	A	736	ENSP00000356399:G736A	ENSP00000356399:G736A	G	+	2	0	CFH	194962664	1.000000	0.71417	0.672000	0.29872	0.008000	0.06430	4.851000	0.62896	2.637000	0.89404	0.655000	0.94253	GGA	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.353	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	50	0.00	0	G	NM_000186		196696041	196696041	+1	no_errors	ENST00000367429	ensembl	human	known	69_37n	missense	95	16.67	19	SNP	0.966	C
CFHR5	81494	genome.wustl.edu	37	1	196973945	196973945	+	Silent	SNP	A	A	G			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr1:196973945A>G	ENST00000256785.4	+	9	1594	c.1485A>G	c.(1483-1485)aaA>aaG	p.K495K	CFHR5_ENST00000367414.5_Silent_p.K519K			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	495	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GCAGAAATAAACAGTGGTCAG	0.378																																						dbGAP											0													90.0	87.0	88.0					1																	196973945		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1485A>G	1.37:g.196973945A>G			Q2NKK2	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.K519	ENST00000256785.4	37	c.1557	CCDS1387.1	1																																																																																			CFHR5	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000134389		0.378	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	71	0.00	0	A	NM_030787		196973945	196973945	+1	no_errors	ENST00000367414	ensembl	human	known	69_37n	silent	105	39.08	68	SNP	0.050	G
CNBD1	168975	genome.wustl.edu	37	8	87878778	87878778	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr8:87878778A>G	ENST00000518476.1	+	1	106	c.55A>G	c.(55-57)Aat>Gat	p.N19D		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	19										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AGCTATTAACAATGTGCCTCC	0.458																																						dbGAP											0													106.0	97.0	100.0					8																	87878778		1957	4158	6115	-	-	-	SO:0001583	missense	0			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.55A>G	8.37:g.87878778A>G	ENSP00000430073:p.Asn19Asp			Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.N19D	ENST00000518476.1	37	c.55	CCDS55259.1	8	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534306	0.45073	.	.	ENSG00000176571	ENST00000518476	T	0.25250	1.81	4.78	4.78	0.61160	.	0.000000	0.46758	D	0.000262	T	0.40067	0.1102	L	0.47716	1.5	0.18873	N	0.999981	D	0.67145	0.996	D	0.65443	0.935	T	0.16689	-1.0394	10	0.87932	D	0	.	10.8681	0.46866	1.0:0.0:0.0:0.0	.	19	Q8NA66	CNBD1_HUMAN	D	19	ENSP00000430073:N19D	ENSP00000430073:N19D	N	+	1	0	CNBD1	87947894	0.726000	0.28059	0.696000	0.30242	0.038000	0.13279	2.364000	0.44187	2.125000	0.65367	0.460000	0.39030	AAT	CNBD1	-	NULL	ENSG00000176571		0.458	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	HGNC	protein_coding	OTTHUMT00000375113.2	59	0.00	0	A	NM_173538		87878778	87878778	+1	no_errors	ENST00000518476	ensembl	human	known	69_37n	missense	248	18.69	57	SNP	0.670	G
CNTNAP3	79937	genome.wustl.edu	37	9	39177396	39177396	+	Silent	SNP	C	C	T			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr9:39177396C>T	ENST00000297668.6	-	6	919	c.846G>A	c.(844-846)acG>acA	p.T282T	CNTNAP3_ENST00000323947.7_Silent_p.T282T|CNTNAP3_ENST00000377659.1_Silent_p.T282T|CNTNAP3_ENST00000377656.2_Silent_p.T282T|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Silent_p.T194T	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	282	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T282T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGTTGACCTGCGTGTCGAGGA	0.488																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											58.0	57.0	57.0					9																	39177396		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.846G>A	9.37:g.39177396C>T			B1AMA0|Q9C0E9	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.T282	ENST00000297668.6	37	c.846	CCDS6616.1	9																																																																																			CNTNAP3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000106714		0.488	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	62	0.00	0	C	NM_033655		39177396	39177396	-1	no_errors	ENST00000297668	ensembl	human	known	69_37n	silent	137	17.96	30	SNP	0.000	T
COL4A6	1288	genome.wustl.edu	37	X	107435784	107435784	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chrX:107435784C>A	ENST00000372216.4	-	18	1202	c.1102G>T	c.(1102-1104)Ggc>Tgc	p.G368C	COL4A6_ENST00000334504.7_Missense_Mutation_p.G367C|COL4A6_ENST00000394872.2_Missense_Mutation_p.G368C|COL4A6_ENST00000538570.1_Missense_Mutation_p.G367C|COL4A6_ENST00000545689.1_Missense_Mutation_p.G367C	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	368	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTGGGAGGCCAGGTACACCA	0.473									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	dbGAP											0													63.0	43.0	49.0					X																	107435784		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1102G>T	X.37:g.107435784C>A	ENSP00000361290:p.Gly368Cys		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G368C	ENST00000372216.4	37	c.1102	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579518	0.28180	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99369	-5.78;-5.78;-5.78;-5.78;-5.78	4.77	4.77	0.60923	.	0.000000	0.40064	N	0.001200	D	0.99677	0.9879	H	0.98612	4.28	0.42153	D	0.991565	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.986;0.986;0.992;0.986	D	0.97282	0.9918	10	0.87932	D	0	.	16.285	0.82714	0.0:1.0:0.0:0.0	.	367;367;368;367	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	C	368;367;368;367;367;367	ENSP00000361290:G368C;ENSP00000334733:G367C;ENSP00000378340:G368C;ENSP00000443707:G367C;ENSP00000445236:G367C	ENSP00000334733:G367C	G	-	1	0	COL4A6	107322440	1.000000	0.71417	0.774000	0.31636	0.701000	0.40568	5.099000	0.64554	2.299000	0.77371	0.523000	0.50628	GGC	COL4A6	-	pfam_Collagen	ENSG00000197565		0.473	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	28	0.00	0	C			107435784	107435784	-1	no_errors	ENST00000372216	ensembl	human	known	69_37n	missense	54	23.94	17	SNP	0.978	A
DBR1	51163	genome.wustl.edu	37	3	137886067	137886067	+	Silent	SNP	A	A	C			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr3:137886067A>C	ENST00000260803.4	-	5	723	c.570T>G	c.(568-570)ctT>ctG	p.L190L	DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	190					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ATTTAGTCTTAAGAAGTTGCT	0.348																																						dbGAP											0													71.0	72.0	71.0					3																	137886067		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.570T>G	3.37:g.137886067A>C			Q96GH0|Q9NXQ6	Silent	SNP	pfam_DBR1_C,pfam_Metallo_PEstase_dom	p.L190	ENST00000260803.4	37	c.570	CCDS33863.1	3																																																																																			DBR1	-	pfam_Metallo_PEstase_dom	ENSG00000138231		0.348	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBR1	HGNC	protein_coding	OTTHUMT00000357585.1	43	0.00	0	A			137886067	137886067	-1	no_errors	ENST00000260803	ensembl	human	known	69_37n	silent	56	32.53	27	SNP	0.963	C
DNAH7	56171	genome.wustl.edu	37	2	196762433	196762433	+	Silent	SNP	T	T	C			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr2:196762433T>C	ENST00000312428.6	-	29	4705	c.4605A>G	c.(4603-4605)gtA>gtG	p.V1535V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1535					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGGCAGATTTACATCAATGA	0.284																																						dbGAP											0													79.0	78.0	78.0					2																	196762433		1796	4073	5869	-	-	-	SO:0001819	synonymous_variant	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4605A>G	2.37:g.196762433T>C			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.V1535	ENST00000312428.6	37	c.4605	CCDS42794.1	2																																																																																			DNAH7	-	NULL	ENSG00000118997		0.284	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	56	0.00	0	T	NM_018897		196762433	196762433	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	silent	69	39.47	45	SNP	1.000	C
DSCAM	1826	genome.wustl.edu	37	21	42080507	42080507	+	Silent	SNP	G	G	A			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr21:42080507G>A	ENST00000400454.1	-	2	711	c.234C>T	c.(232-234)aaC>aaT	p.N78N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	78	Ig-like C2-type 1.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGAGAGTGCCGTTGGGGTGGA	0.522																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											0													98.0	100.0	99.0					21																	42080507		1947	4144	6091	-	-	-	SO:0001819	synonymous_variant	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.234C>T	21.37:g.42080507G>A			O60468	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.N78	ENST00000400454.1	37	c.234	CCDS42929.1	21																																																																																			DSCAM	-	smart_Ig_sub2	ENSG00000171587		0.522	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	39	0.00	0	G	NM_001389		42080507	42080507	-1	no_errors	ENST00000400454	ensembl	human	known	69_37n	silent	86	19.63	21	SNP	1.000	A
EDA	1896	genome.wustl.edu	37	X	68836476	68836476	+	Silent	SNP	G	G	A			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chrX:68836476G>A	ENST00000374552.4	+	1	566	c.324G>A	c.(322-324)caG>caA	p.Q108Q	EDA_ENST00000338901.3_Silent_p.Q108Q|EDA_ENST00000374553.2_Silent_p.Q108Q|EDA_ENST00000525810.1_Silent_p.Q108Q|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000524573.1_Silent_p.Q108Q|EDA_ENST00000527388.1_Silent_p.Q108Q	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	108					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						ACCTTGGGCAGCCGTCACCTA	0.677																																						dbGAP											0													31.0	35.0	34.0					X																	68836476		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.324G>A	X.37:g.68836476G>A			A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Silent	SNP	pfam_TNF,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,pfscan_TNF	p.Q108	ENST00000374552.4	37	c.324	CCDS14394.1	X																																																																																			EDA	-	NULL	ENSG00000158813		0.677	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EDA	HGNC	protein_coding	OTTHUMT00000057048.2	24	0.00	0	G	NM_001399		68836476	68836476	+1	no_errors	ENST00000374552	ensembl	human	known	69_37n	silent	21	19.23	5	SNP	0.097	A
EIF5	1983	genome.wustl.edu	37	14	103803551	103803551	+	Silent	SNP	C	C	G			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr14:103803551C>G	ENST00000216554.3	+	6	1102	c.426C>G	c.(424-426)ctC>ctG	p.L142L	EIF5_ENST00000560200.1_3'UTR|SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000392715.2_Silent_p.L142L|EIF5_ENST00000558506.1_Silent_p.L142L	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	142					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			CATTCATTCTCAAAAACCCAC	0.378																																						dbGAP											0													92.0	83.0	86.0					14																	103803551		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.426C>G	14.37:g.103803551C>G			Q53XB3|Q9H5N2|Q9UG48	Silent	SNP	pfam_Transl_init_fac_IF2/IF5,pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5,smart_W2_domain	p.L142	ENST00000216554.3	37	c.426	CCDS9980.1	14																																																																																			EIF5	-	NULL	ENSG00000100664		0.378	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5	HGNC	protein_coding	OTTHUMT00000415329.2	41	0.00	0	C	NM_001969		103803551	103803551	+1	no_errors	ENST00000216554	ensembl	human	known	69_37n	silent	104	27.78	40	SNP	1.000	G
FAM171A1	221061	genome.wustl.edu	37	10	15256166	15256166	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr10:15256166C>A	ENST00000378116.4	-	8	1427	c.1421G>T	c.(1420-1422)aGa>aTa	p.R474I	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	474						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GTAGCCTTCTCTTTCCATAGA	0.478																																						dbGAP											0													89.0	80.0	83.0					10																	15256166		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1421G>T	10.37:g.15256166C>A	ENSP00000367356:p.Arg474Ile		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.R474I	ENST00000378116.4	37	c.1421	CCDS31154.1	10	.	.	.	.	.	.	.	.	.	.	C	0.229	-1.022750	0.02061	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.30448	1.53	5.25	4.34	0.51931	.	0.230040	0.43919	D	0.000509	T	0.18718	0.0449	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.11470	-1.0586	10	0.38643	T	0.18	-20.3215	3.9686	0.09443	0.1405:0.5634:0.2061:0.09	.	474	Q5VUB5	F1711_HUMAN	I	474;475	ENSP00000367356:R474I	ENSP00000367356:R474I	R	-	2	0	FAM171A1	15296172	0.999000	0.42202	0.141000	0.22245	0.022000	0.10575	1.634000	0.37123	1.413000	0.46997	0.563000	0.77884	AGA	FAM171A1	-	pfam_Uncharacterised_FAM171	ENSG00000148468		0.478	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	28	0.00	0	C	XM_167709		15256166	15256166	-1	no_errors	ENST00000378116	ensembl	human	known	69_37n	missense	75	14.77	13	SNP	0.019	A
FASN	2194	genome.wustl.edu	37	17	80051484	80051486	+	In_Frame_Del	DEL	GAA	GAA	-	rs201559192		TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr17:80051484_80051486delGAA	ENST00000306749.2	-	4	660_662	c.442_444delTTC	c.(442-444)ttcdel	p.F148del		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	148	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CTCTGAAGTCGAAGAAGAAGGAG	0.65																																					Colon(59;314 1043 11189 28578 32273)	dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.442_444delTTC	17.37:g.80051490_80051492delGAA	ENSP00000304592:p.Phe148del		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	In_Frame_Del	DEL	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.F148in_frame_del	ENST00000306749.2	37	c.444_442	CCDS11801.1	17																																																																																			FASN	-	pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom	ENSG00000169710		0.650	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	18	0.00	0	GAA	NM_004104		80051484	80051486	-1	no_errors	ENST00000306749	ensembl	human	known	69_37n	in_frame_del	20	25.93	7	DEL	0.962:1.000:1.000	-
FBXL7	23194	genome.wustl.edu	37	5	15928218	15928218	+	Missense_Mutation	SNP	G	G	A	rs375773578		TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr5:15928218G>A	ENST00000504595.1	+	3	828	c.347G>A	c.(346-348)cGg>cAg	p.R116Q	FBXL7_ENST00000510662.1_Missense_Mutation_p.R69Q|FBXL7_ENST00000329673.7_Missense_Mutation_p.R104Q	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	116	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AGCATAGACCGGCTCCCGGAC	0.687																																						dbGAP											0													15.0	21.0	19.0					5																	15928218		2042	4189	6231	-	-	-	SO:0001583	missense	0			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.347G>A	5.37:g.15928218G>A	ENSP00000423630:p.Arg116Gln		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.R116Q	ENST00000504595.1	37	c.347	CCDS54833.1	5	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045614	0.55110	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.45276	0.9;0.9;0.9	5.67	5.67	0.87782	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.184298	0.47455	D	0.000239	T	0.32406	0.0828	L	0.31526	0.94	0.43569	D	0.995897	B	0.28439	0.212	B	0.21917	0.037	T	0.10870	-1.0611	10	0.12103	T	0.63	.	19.7607	0.96316	0.0:0.0:1.0:0.0	.	116	Q9UJT9	FBXL7_HUMAN	Q	116;69;104	ENSP00000423630:R116Q;ENSP00000425184:R69Q;ENSP00000329632:R104Q	ENSP00000329632:R104Q	R	+	2	0	FBXL7	15981218	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.037000	0.76531	2.686000	0.91538	0.561000	0.74099	CGG	FBXL7	-	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	ENSG00000183580		0.687	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL7	HGNC	protein_coding	OTTHUMT00000366117.1	10	0.00	0	G	NM_012304		15928218	15928218	+1	no_errors	ENST00000504595	ensembl	human	known	69_37n	missense	9	43.75	7	SNP	1.000	A
FRMPD2	143162	genome.wustl.edu	37	10	49450274	49450274	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr10:49450274G>A	ENST00000374201.3	-	5	799	c.497C>T	c.(496-498)tCt>tTt	p.S166F	FRMPD2_ENST00000407470.4_Missense_Mutation_p.S135F|FRMPD2_ENST00000305531.3_Missense_Mutation_p.S142F	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	166	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGGGTAGACAGACACTTCTTT	0.542																																						dbGAP											0													104.0	102.0	103.0					10																	49450274		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.497C>T	10.37:g.49450274G>A	ENSP00000363317:p.Ser166Phe		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.S166F	ENST00000374201.3	37	c.497	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816431	0.70912	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.33216	1.5;1.42;1.42	5.16	5.16	0.70880	KIND (2);	.	.	.	.	T	0.29491	0.0735	N	0.19112	0.55	0.19945	N	0.999949	P;P;P	0.48503	0.911;0.824;0.911	P;B;P	0.47981	0.563;0.327;0.563	T	0.15723	-1.0427	9	0.87932	D	0	.	14.1414	0.65322	0.0:0.0:1.0:0.0	.	142;166;135	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	F	166;142;135	ENSP00000363317:S166F;ENSP00000307079:S142F;ENSP00000384339:S135F	ENSP00000307079:S142F	S	-	2	0	FRMPD2	49120280	0.427000	0.25514	0.215000	0.23724	0.992000	0.81027	3.177000	0.50871	2.406000	0.81754	0.655000	0.94253	TCT	FRMPD2	-	superfamily_Kinase-like_dom,smart_KIND	ENSG00000170324		0.542	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	33	0.00	0	G	NM_152428		49450274	49450274	-1	no_errors	ENST00000374201	ensembl	human	known	69_37n	missense	71	12.35	10	SNP	0.464	A
GLP2R	9340	genome.wustl.edu	37	17	9739689	9739689	+	Splice_Site	SNP	C	C	A			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr17:9739689C>A	ENST00000262441.5	+	3	792	c.279C>A	c.(277-279)ggC>ggA	p.G93G	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	93					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TCTCTGTAGGCATATTTTGTA	0.502																																						dbGAP											0													297.0	265.0	275.0					17																	9739689		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.278-1C>A	17.37:g.9739689C>A			Q4VAT3	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.G93	ENST00000262441.5	37	c.279	CCDS11150.1	17																																																																																			GLP2R	-	smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom	ENSG00000065325		0.502	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP2R	HGNC	protein_coding	OTTHUMT00000252601.4	117	0.85	1	C		Silent	9739689	9739689	+1	no_errors	ENST00000262441	ensembl	human	known	69_37n	silent	196	43.68	152	SNP	0.000	A
GOLGA6L6	727832	genome.wustl.edu	37	15	20740459	20740461	+	In_Frame_Del	DEL	TCG	TCG	-			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	TCG	TCG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr15:20740459_20740461delTCG	ENST00000427390.2	-	8	1379_1381	c.1289_1291delCGA	c.(1288-1293)gcgaag>gag	p.430_431AK>E		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	430	Gln-rich.|Glu-rich.									NS(3)|endometrium(4)|kidney(1)|skin(3)	11						ctccacatcttcgcctcctgctc	0.552																																						dbGAP											0										16,452		5,6,223							0.0			1	60,546		25,10,268	no	coding	GOLGA6L6	NM_001145004.1		30,16,491	A1A1,A1R,RR		9.901,3.4188,7.0764				76,998				-	-	-	SO:0001651	inframe_deletion	0			AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.1289_1291delCGA	15.37:g.20740459_20740461delTCG	ENSP00000398615:p.Ala430_Lys431delinsGlu		D3YTC0	In_Frame_Del	DEL	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.AK430in_frame_delE	ENST00000427390.2	37	c.1291_1289	CCDS45184.1	15																																																																																			GOLGA6L6	-	NULL	ENSG00000215405		0.552	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6L6	HGNC	protein_coding	OTTHUMT00000414660.3	13	0.00	0	TCG	NM_001145004		20740459	20740461	-1	no_errors	ENST00000427390	ensembl	human	known	69_37n	in_frame_del	6	33.33	3	DEL	0.966:0.963:0.960	-
GPR32	2854	genome.wustl.edu	37	19	51274851	51274851	+	Missense_Mutation	SNP	A	A	C	rs201404376		TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr19:51274851A>C	ENST00000270590.4	+	1	1131	c.994A>C	c.(994-996)Act>Cct	p.T332P		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	332					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCAGTCTTTGACTTCTGCCCT	0.552																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	dbGAP											0													66.0	71.0	69.0					19																	51274851		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.994A>C	19.37:g.51274851A>C	ENSP00000270590:p.Thr332Pro		Q502U7|Q6NWS5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt	p.T332P	ENST00000270590.4	37	c.994	CCDS12801.1	19	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.066505	0.00382	.	.	ENSG00000142511	ENST00000270590	T	0.36699	1.24	2.71	-0.781	0.10965	.	.	.	.	.	T	0.12518	0.0304	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31138	-0.9954	9	0.02654	T	1	.	3.6506	0.08202	0.205:0.5623:0.0:0.2327	.	332	O75388	GPR32_HUMAN	P	332	ENSP00000270590:T332P	ENSP00000270590:T332P	T	+	1	0	GPR32	55966663	0.000000	0.05858	0.025000	0.17156	0.653000	0.38743	0.089000	0.15002	-0.262000	0.09392	-0.755000	0.03482	ACT	GPR32	-	prints_Frt_met_rcpt	ENSG00000142511		0.552	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR32	HGNC	protein_coding	OTTHUMT00000465016.1	34	0.00	0	A			51274851	51274851	+1	no_errors	ENST00000270590	ensembl	human	known	69_37n	missense	69	14.81	12	SNP	0.018	C
RGL4	266747	genome.wustl.edu	37	22	24037483	24037483	+	Intron	SNP	A	A	T	rs539066191	byFrequency	TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr22:24037483A>T	ENST00000290691.5	+	6	2256				RGL4_ENST00000401461.1_Intron|KB-1572G7.2_ENST00000421064.1_RNA|GUSBP11_ENST00000455485.1_RNA|AP000347.2_ENST00000417194.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4						small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						AGGGGTGATGAGCTGCAGCAT	0.632													a|||	4	0.000798722	0.0008	0.0014	5008	,	,		19006	0.0		0.002	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.1086+277A>T	22.37:g.24037483A>T			Q495L8	RNA	SNP	-	NULL	ENST00000290691.5	37	NULL	CCDS13811.1	22																																																																																			GUSBP11	-	-	ENSG00000228315		0.632	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GUSBP11	HGNC	protein_coding	OTTHUMT00000319711.1	9	0.00	0	A	NM_153615		24037483	24037483	-1	no_errors	ENST00000421064	ensembl	human	known	69_37n	rna	2	75.00	6	SNP	0.000	T
IGHV4-61	28391	genome.wustl.edu	37	14	107095423	107095423	+	RNA	SNP	G	G	A	rs201399631	byFrequency	TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr14:107095423G>A	ENST00000390630.2	-	0	157				RNA5SP389_ENST00000362610.1_RNA					immunoglobulin heavy variable 4-61																		GCTGCACCTGGGACAGGACCC	0.617													.|||	545	0.108826	0.1778	0.0519	5008	,	,		8491	0.0427		0.0278	False		,,,				2504	0.2076					dbGAP											0													14.0	27.0	23.0					14																	107095423		1750	4010	5760	-	-	-			0			M29811		14q32.33	2012-02-08			ENSG00000211970	ENSG00000211970		"""Immunoglobulins / IGH locus"""	5655	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151976		14.37:g.107095423G>A				Silent	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S19	ENST00000390630.2	37	c.57		14																																																																																			IGHV4-61	-	pfscan_Ig-like	ENSG00000211970		0.617	IGHV4-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV4-61	HGNC	IG_V_gene	OTTHUMT00000324623.1	31	0.00	0	G	NG_001019		107095423	107095423	-1	no_stop_codon	ENST00000390630	ensembl	human	known	69_37n	silent	65	10.96	8	SNP	0.987	A
KLC3	147700	genome.wustl.edu	37	19	45848976	45848976	+	Silent	SNP	C	C	T			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr19:45848976C>T	ENST00000391946.2	+	2	279	c.177C>T	c.(175-177)gcC>gcT	p.A59A	KLC3_ENST00000585434.1_Silent_p.A59A|KLC3_ENST00000470402.1_Silent_p.A73A	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	59					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GCCCGGCAGCCGGCTTGGAGA	0.716																																						dbGAP											0													5.0	8.0	7.0					19																	45848976		1838	3916	5754	-	-	-	SO:0001819	synonymous_variant	0			AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.177C>T	19.37:g.45848976C>T			A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Silent	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A73	ENST00000391946.2	37	c.219	CCDS12660.2	19																																																																																			KLC3	-	NULL	ENSG00000104892		0.716	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLC3	HGNC	protein_coding	OTTHUMT00000289776.1	9	0.00	0	C	NM_145275		45848976	45848976	+1	no_errors	ENST00000470402	ensembl	human	known	69_37n	silent	2	77.78	7	SNP	0.001	T
LAMC1	3915	genome.wustl.edu	37	1	183090900	183090900	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr1:183090900C>T	ENST00000258341.4	+	12	2290	c.2033C>T	c.(2032-2034)cCt>cTt	p.P678L		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	678	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AGTGCTCGTCCTGGGCCTGGA	0.498																																						dbGAP											0													140.0	124.0	130.0					1																	183090900		2203	4300	6503	-	-	-	SO:0001583	missense	0			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2033C>T	1.37:g.183090900C>T	ENSP00000258341:p.Pro678Leu		Q5VYE7	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.P678L	ENST00000258341.4	37	c.2033	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229832	0.39399	.	.	ENSG00000135862	ENST00000258341	T	0.36878	1.23	5.13	3.11	0.35812	Laminin B type IV (2);Laminin B, subgroup (1);	0.316236	0.34088	N	0.004273	T	0.26268	0.0641	L	0.29908	0.895	0.51482	D	0.999929	B	0.24317	0.101	B	0.24394	0.053	T	0.06826	-1.0805	10	0.36615	T	0.2	.	11.9412	0.52903	0.0:0.7913:0.1337:0.0749	.	678	P11047	LAMC1_HUMAN	L	678	ENSP00000258341:P678L	ENSP00000258341:P678L	P	+	2	0	LAMC1	181357523	1.000000	0.71417	0.997000	0.53966	0.846000	0.48090	3.610000	0.54125	1.168000	0.42723	0.650000	0.86243	CCT	LAMC1	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV	ENSG00000135862		0.498	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	HGNC	protein_coding	OTTHUMT00000085954.2	68	0.00	0	C	NM_002293		183090900	183090900	+1	no_errors	ENST00000258341	ensembl	human	known	69_37n	missense	199	30.18	86	SNP	0.985	T
LAMP5	24141	genome.wustl.edu	37	20	9510417	9510417	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr20:9510417A>T	ENST00000246070.2	+	6	1285	c.793A>T	c.(793-795)Aac>Tac	p.N265Y	LAMP5_ENST00000427562.2_Missense_Mutation_p.N221Y	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	265						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											AATGACTGCCAACCAGGTGCA	0.552																																						dbGAP											0													122.0	101.0	108.0					20																	9510417		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.793A>T	20.37:g.9510417A>T	ENSP00000246070:p.Asn265Tyr		B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	pfam_Lysosome-assoc_membr_glycop	p.N265Y	ENST00000246070.2	37	c.793	CCDS13106.1	20	.	.	.	.	.	.	.	.	.	.	A	20.6	4.024077	0.75390	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.47177	1.4;0.85	6.16	6.16	0.99307	.	0.042441	0.85682	D	0.000000	T	0.50034	0.1592	N	0.14661	0.345	0.50632	D	0.999885	D;D	0.65815	0.986;0.995	P;D	0.63283	0.814;0.913	T	0.49399	-0.8944	9	.	.	.	-23.0309	16.8061	0.85666	1.0:0.0:0.0:0.0	.	221;265	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	Y	265;221	ENSP00000246070:N265Y;ENSP00000406360:N221Y	.	N	+	1	0	C20orf103	9458417	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.522000	0.53480	2.367000	0.80283	0.528000	0.53228	AAC	LAMP5	-	NULL	ENSG00000125869		0.552	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMP5	HGNC	protein_coding	OTTHUMT00000077946.2	38	0.00	0	A	NM_012261		9510417	9510417	+1	no_errors	ENST00000246070	ensembl	human	known	69_37n	missense	95	16.67	19	SNP	1.000	T
MAGED1	9500	genome.wustl.edu	37	X	51640687	51640687	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chrX:51640687G>T	ENST00000375722.1	+	6	1783	c.1531G>T	c.(1531-1533)Gaa>Taa	p.E511*	MAGED1_ENST00000375695.2_Nonsense_Mutation_p.E567*|MAGED1_ENST00000326587.7_Nonsense_Mutation_p.E511*|MAGED1_ENST00000375772.3_Nonsense_Mutation_p.E511*|MAGED1_ENST00000494718.1_3'UTR			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	511	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TGTTTATCCAGAAATCATTGA	0.493										Multiple Myeloma(10;0.10)																												dbGAP											0													98.0	85.0	90.0					X																	51640687		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1531G>T	X.37:g.51640687G>T	ENSP00000364874:p.Glu511*		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Nonsense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E567*	ENST00000375722.1	37	c.1699	CCDS14337.1	X	.	.	.	.	.	.	.	.	.	.	G	38	6.946565	0.97956	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	.	.	.	3.45	3.45	0.39498	.	0.000000	0.36740	N	0.002429	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.0453	0.53477	0.0:0.0:1.0:0.0	.	.	.	.	X	511;511;511;567	.	ENSP00000325333:E511X	E	+	1	0	MAGED1	51657427	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.328000	0.65887	1.986000	0.57962	0.506000	0.49869	GAA	MAGED1	-	pfam_MAGE,pfscan_MAGE	ENSG00000179222		0.493	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	HGNC	protein_coding	OTTHUMT00000056593.1	90	0.00	0	G	NM_001005332		51640687	51640687	+1	no_errors	ENST00000375695	ensembl	human	known	69_37n	nonsense	129	21.82	36	SNP	1.000	T
NBEAL1	65065	genome.wustl.edu	37	2	204030948	204030948	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr2:204030948G>T	ENST00000449802.1	+	36	6037	c.5704G>T	c.(5704-5706)Gta>Tta	p.V1902L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1902										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AATAATTGATGTAATTCCTGG	0.318																																						dbGAP											0													90.0	83.0	85.0					2																	204030948		1834	4085	5919	-	-	-	SO:0001583	missense	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5704G>T	2.37:g.204030948G>T	ENSP00000399903:p.Val1902Leu		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1902L	ENST00000449802.1	37	c.5704	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146208	0.37923	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.58210	0.35	4.9	-1.4	0.08968	PH-BEACH domain (1);	0.198643	0.42821	D	0.000643	T	0.46619	0.1402	M	0.65975	2.015	0.26486	N	0.975029	B;B	0.19073	0.033;0.033	B;B	0.16722	0.016;0.016	T	0.44757	-0.9307	10	0.54805	T	0.06	.	10.9355	0.47243	0.4316:0.0:0.5684:0.0	.	1902;1891	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	L	1902	ENSP00000399903:V1902L	ENSP00000344985:V1902L	V	+	1	0	NBEAL1	203739193	0.998000	0.40836	0.076000	0.20297	0.965000	0.64279	2.372000	0.44257	-0.551000	0.06175	0.467000	0.42956	GTA	NBEAL1	-	NULL	ENSG00000144426		0.318	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	71	0.00	0	G			204030948	204030948	+1	no_errors	ENST00000449802	ensembl	human	known	69_37n	missense	152	12.64	22	SNP	0.553	T
OR52E8	390079	genome.wustl.edu	37	11	5878074	5878074	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr11:5878074C>G	ENST00000537935.1	-	1	890	c.859G>C	c.(859-861)Gtt>Ctt	p.V287L	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGGGACAACCACATACAGG	0.403																																						dbGAP											0													101.0	119.0	113.0					11																	5878074		2146	4296	6442	-	-	-	SO:0001583	missense	0			BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.859G>C	11.37:g.5878074C>G	ENSP00000444054:p.Val287Leu		B9EH38	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V287L	ENST00000537935.1	37	c.859	CCDS31400.1	11	.	.	.	.	.	.	.	.	.	.	C	7.059	0.565941	0.13560	.	.	ENSG00000183269	ENST00000537935	T	0.00279	8.33	4.12	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.300015	0.23573	N	0.046723	T	0.00073	0.0002	N	0.03294	-0.36	0.09310	N	1	B	0.12013	0.005	B	0.24269	0.052	T	0.26087	-1.0113	10	0.05959	T	0.93	.	4.5138	0.11924	0.0:0.6118:0.1854:0.2029	.	287	Q6IFG1	O52E8_HUMAN	L	287	ENSP00000444054:V287L	ENSP00000444054:V287L	V	-	1	0	OR52E8	5834650	0.000000	0.05858	0.133000	0.22050	0.073000	0.16967	-1.957000	0.01521	1.089000	0.41292	0.549000	0.68633	GTT	OR52E8	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000183269		0.403	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E8	HGNC	protein_coding	OTTHUMT00000401145.1	43	0.00	0	C	NM_001005168		5878074	5878074	-1	no_errors	ENST00000537935	ensembl	human	known	69_37n	missense	145	16.09	28	SNP	0.038	G
OR5B3	441608	genome.wustl.edu	37	11	58170702	58170702	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr11:58170702G>C	ENST00000309403.2	-	1	180	c.181C>G	c.(181-183)Ctc>Gtc	p.L61V		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAGTTACTGAGAAAAAAGTAC	0.413																																						dbGAP											0													81.0	80.0	80.0					11																	58170702		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.181C>G	11.37:g.58170702G>C	ENSP00000308270:p.Leu61Val		Q6IEV6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L61V	ENST00000309403.2	37	c.181	CCDS31549.1	11	.	.	.	.	.	.	.	.	.	.	g	11.71	1.720834	0.30503	.	.	ENSG00000172769	ENST00000309403	T	0.14022	2.54	4.19	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38111	N	0.001818	T	0.41789	0.1174	H	0.95745	3.715	0.30765	N	0.743701	D	0.67145	0.996	D	0.64595	0.927	T	0.53865	-0.8378	10	0.87932	D	0	-51.4397	6.3202	0.21213	0.0962:0.0:0.7184:0.1855	.	61	Q8NH48	OR5B3_HUMAN	V	61	ENSP00000308270:L61V	ENSP00000308270:L61V	L	-	1	0	OR5B3	57927278	1.000000	0.71417	0.958000	0.39756	0.050000	0.14768	3.044000	0.49830	1.090000	0.41315	0.585000	0.79938	CTC	OR5B3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000172769		0.413	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B3	HGNC	protein_coding	OTTHUMT00000394886.1	32	0.00	0	G	NM_001005469		58170702	58170702	-1	no_errors	ENST00000309403	ensembl	human	known	69_37n	missense	87	15.53	16	SNP	0.999	C
PCSK5	5125	genome.wustl.edu	37	9	78789962	78789962	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr9:78789962C>G	ENST00000545128.1	+	14	2355	c.1817C>G	c.(1816-1818)aCc>aGc	p.T606S	PCSK5_ENST00000376752.4_Missense_Mutation_p.T606S|PCSK5_ENST00000376767.3_Missense_Mutation_p.T606S	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	606					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TATTCACCAACCAATGAATTT	0.453																																						dbGAP											0													130.0	121.0	124.0					9																	78789962		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1817C>G	9.37:g.78789962C>G	ENSP00000446280:p.Thr606Ser		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EGF-like,prints_Peptidase_S8_subtilisin-rel	p.T606S	ENST00000545128.1	37	c.1817	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109401	0.37242	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	T;T;T;T	0.69306	0.82;-0.39;0.64;1.66	5.59	5.59	0.84812	.	0.349443	0.30277	N	0.009995	T	0.53722	0.1814	L	0.29908	0.895	0.31080	N	0.712045	B;B	0.10296	0.003;0.002	B;B	0.17098	0.017;0.004	T	0.50915	-0.8771	10	0.17369	T	0.5	-22.9418	14.1201	0.65182	0.0:0.7302:0.2697:0.0	.	606;606	Q92824-2;B1AMG5	.;.	S	606;309;606;606;606;279	ENSP00000446280:T606S;ENSP00000365958:T606S;ENSP00000365943:T606S;ENSP00000411654:T279S	ENSP00000365943:T606S	T	+	2	0	PCSK5	77979782	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.066000	0.57520	2.640000	0.89533	0.650000	0.86243	ACC	PCSK5	-	NULL	ENSG00000099139		0.453	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		74	0.00	0	C			78789962	78789962	+1	no_errors	ENST00000545128	ensembl	human	known	69_37n	missense	101	31.76	47	SNP	1.000	G
PUS1	80324	genome.wustl.edu	37	12	132426329	132426329	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr12:132426329G>A	ENST00000376649.3	+	5	1537	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	PUS1_ENST00000440818.2_Missense_Mutation_p.R318H|PUS1_ENST00000443358.2_Missense_Mutation_p.R318H|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000542167.2_Missense_Mutation_p.R293H	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	346					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		TACAACCAGCGCTTTGGCAAC	0.637																																					Esophageal Squamous(102;671 2009 17384 45666)	dbGAP											0													79.0	67.0	71.0					12																	132426329		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.1037G>A	12.37:g.132426329G>A	ENSP00000365837:p.Arg346His		A8K877|B3KQC1|Q8WYT2|Q9BU44	Missense_Mutation	SNP	pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA	p.R346H	ENST00000376649.3	37	c.1037	CCDS9275.2	12	.	.	.	.	.	.	.	.	.	.	G	33	5.288392	0.95517	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.17	5.17	0.71159	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75781	0.3896	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.985	T	0.79864	-0.1623	10	0.72032	D	0.01	-4.9512	18.6497	0.91427	0.0:0.0:1.0:0.0	.	293;346	F5H1S9;Q9Y606	.;TRUA_HUMAN	H	318;346;318;318;293	ENSP00000392451:R318H;ENSP00000365837:R346H;ENSP00000324726:R318H;ENSP00000400032:R318H;ENSP00000438948:R293H	ENSP00000324726:R318H	R	+	2	0	PUS1	130992282	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.785000	0.99042	2.405000	0.81733	0.491000	0.48974	CGC	PUS1	-	superfamily_PsdUridine_synth_cat_dom	ENSG00000177192		0.637	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PUS1	HGNC	protein_coding	OTTHUMT00000250313.2	21	0.00	0	G	NM_025215		132426329	132426329	+1	no_errors	ENST00000376649	ensembl	human	known	69_37n	missense	41	19.61	10	SNP	1.000	A
RPS6KB2	6199	genome.wustl.edu	37	11	67196636	67196636	+	Silent	SNP	G	G	A			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr11:67196636G>A	ENST00000312629.5	+	3	210	c.165G>A	c.(163-165)gtG>gtA	p.V55V	AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000539188.1_Silent_p.V55V|RPS6KB2_ENST00000524814.1_3'UTR	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	55					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AGACCAGCGTGAACGTTGGCC	0.622																																						dbGAP											0													89.0	98.0	95.0					11																	67196636		2152	4228	6380	-	-	-	SO:0001819	synonymous_variant	0			AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.165G>A	11.37:g.67196636G>A			B2RMZ9|B4DML8|O94809|Q9UEC1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom	p.V55	ENST00000312629.5	37	c.165	CCDS41677.1	11																																																																																			RPS6KB2	-	superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase	ENSG00000175634		0.622	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KB2	HGNC	protein_coding	OTTHUMT00000395508.1	23	0.00	0	G	NM_003952		67196636	67196636	+1	no_errors	ENST00000312629	ensembl	human	known	69_37n	silent	24	27.27	9	SNP	1.000	A
SCCPDH	51097	genome.wustl.edu	37	1	246890254	246890254	+	Missense_Mutation	SNP	C	C	T	rs202160032		TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr1:246890254C>T	ENST00000366510.3	+	2	627	c.251C>T	c.(250-252)tCg>tTg	p.S84L		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	84						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.S84L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		AATCCAGCCTCGCTTGATGAA	0.383																																						dbGAP											1	Substitution - Missense(1)	lung(1)											138.0	119.0	125.0					1																	246890254		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.251C>T	1.37:g.246890254C>T	ENSP00000355467:p.Ser84Leu		Q8TAR0|Q9Y363	Missense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn	p.S84L	ENST00000366510.3	37	c.251	CCDS31084.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.150028	0.94645	.	.	ENSG00000143653	ENST00000366510	T	0.48201	0.82	6.17	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.76933	0.4057	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82723	-0.0316	10	0.87932	D	0	.	15.6661	0.77230	0.0:0.933:0.0:0.0669	.	84	Q8NBX0	SCPDL_HUMAN	L	84	ENSP00000355467:S84L	ENSP00000355467:S84L	S	+	2	0	SCCPDH	244956877	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.207000	0.65197	2.941000	0.99782	0.655000	0.94253	TCG	SCCPDH	-	pfam_Saccharopine_DH/HSpermid_syn	ENSG00000143653		0.383	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCCPDH	HGNC	protein_coding	OTTHUMT00000096902.2	58	0.00	0	C	NM_016002		246890254	246890254	+1	no_errors	ENST00000366510	ensembl	human	known	69_37n	missense	275	11.58	36	SNP	1.000	T
SEPT7P2	641977	genome.wustl.edu	37	7	45767787	45767787	+	RNA	SNP	G	G	A	rs574418982		TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr7:45767787G>A	ENST00000429741.1	-	0	1342									septin 7 pseudogene 2																		CTCAGCTTCAGAGTCCTTCAG	0.348													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14304	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-			0			AL133216		7p12.3	2010-03-24	2010-03-24	2010-03-24	ENSG00000214765	ENSG00000214765			32339	pseudogene	pseudogene		611563	"""septin 7B"", ""septin 13"""	SEPT7B, SEPT13		15915442	Standard	NR_024271		Approved	DKFZp313J1114	uc003tnf.4		OTTHUMG00000155423		7.37:g.45767787G>A				RNA	SNP	-	NULL	ENST00000429741.1	37	NULL		7																																																																																			SEPT7P2	-	-	ENSG00000214765		0.348	SEPT7P2-001	KNOWN	basic	processed_transcript	SEPT7P2	HGNC	pseudogene	OTTHUMT00000340060.1	35	0.00	0	G	NR_024271		45767787	45767787	-1	no_errors	ENST00000338231	ensembl	human	known	69_37n	rna	75	17.58	16	SNP	1.000	A
SLC4A11	83959	genome.wustl.edu	37	20	3209652	3209652	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr20:3209652A>C	ENST00000380056.3	-	16	2119	c.2072T>G	c.(2071-2073)gTg>gGg	p.V691G	SLC4A11_ENST00000380059.3_Missense_Mutation_p.V718G|SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000539553.2_Missense_Mutation_p.V675G	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	691	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.V718G(1)|p.V691G(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGTGCCCTTCACCAGCCTGCA	0.667																																					NSCLC(190;922 2139 10266 10292 38692)	dbGAP											2	Substitution - Missense(2)	prostate(2)											87.0	72.0	77.0					20																	3209652		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.2072T>G	20.37:g.3209652A>C	ENSP00000369396:p.Val691Gly		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk	p.V718G	ENST00000380056.3	37	c.2153	CCDS13052.1	20	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199387	0.38806	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	T;T;T	0.79352	-1.26;-1.26;-1.26	4.93	4.93	0.64822	Bicarbonate transporter, C-terminal (1);	0.217595	0.39341	N	0.001385	T	0.81432	0.4821	M	0.83483	2.645	0.80722	D	1	B;P;P	0.42337	0.36;0.587;0.776	B;B;B	0.43052	0.161;0.381;0.406	D	0.84003	0.0344	10	0.51188	T	0.08	.	14.8866	0.70572	1.0:0.0:0.0:0.0	.	675;718;691	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	G	718;691;675	ENSP00000369399:V718G;ENSP00000369396:V691G;ENSP00000441370:V675G	ENSP00000369396:V691G	V	-	2	0	SLC4A11	3157652	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.200000	0.77838	1.989000	0.58080	0.379000	0.24179	GTG	SLC4A11	-	pfam_HCO3_transpt_C,prints_HCO3_transpt_euk	ENSG00000088836		0.667	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	SLC4A11	HGNC	protein_coding	OTTHUMT00000077728.1	20	0.00	0	A			3209652	3209652	-1	no_errors	ENST00000380059	ensembl	human	known	69_37n	missense	64	26.14	23	SNP	1.000	C
SLX4	84464	genome.wustl.edu	37	16	3641097	3641097	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr16:3641097C>T	ENST00000294008.3	-	12	3182	c.2542G>A	c.(2542-2544)Gaa>Aaa	p.E848K		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	848	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ATTTCTGCTTCATTCACGTTT	0.488								Direct reversal of damage																														dbGAP											0													148.0	149.0	148.0					16																	3641097		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2542G>A	16.37:g.3641097C>T	ENSP00000294008:p.Glu848Lys		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.E848K	ENST00000294008.3	37	c.2542	CCDS10506.2	16	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514238	0.85389	.	.	ENSG00000188827	ENST00000294008	T	0.03065	4.06	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	T	0.18173	0.0436	M	0.65975	2.015	0.40914	D	0.984255	D	0.89917	1.0	D	0.87578	0.998	T	0.00064	-1.2152	10	0.72032	D	0.01	.	18.5351	0.91008	0.0:1.0:0.0:0.0	.	848	Q8IY92	SLX4_HUMAN	K	848	ENSP00000294008:E848K	ENSP00000294008:E848K	E	-	1	0	SLX4	3581098	1.000000	0.71417	0.977000	0.42913	0.691000	0.40173	6.087000	0.71362	2.619000	0.88677	0.561000	0.74099	GAA	SLX4	-	NULL	ENSG00000188827		0.488	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	HGNC	protein_coding	OTTHUMT00000157301.3	89	0.00	0	C	NM_032444		3641097	3641097	-1	no_errors	ENST00000294008	ensembl	human	known	69_37n	missense	250	30.75	111	SNP	1.000	T
SPTA1	6708	genome.wustl.edu	37	1	158604413	158604413	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr1:158604413C>G	ENST00000368147.4	-	39	5665	c.5485G>C	c.(5485-5487)Gag>Cag	p.E1829Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1829					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCTCTTCCTCAGCATTCTGC	0.438																																						dbGAP											0													178.0	161.0	167.0					1																	158604413		1958	4137	6095	-	-	-	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5485G>C	1.37:g.158604413C>G	ENSP00000357129:p.Glu1829Gln		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.E1829Q	ENST00000368147.4	37	c.5485	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155798	0.78114	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.36699	1.24;1.24	5.64	4.73	0.59995	.	0.256834	0.20281	N	0.095454	T	0.48352	0.1495	M	0.85945	2.785	0.46185	D	0.998913	D	0.71674	0.998	P	0.60886	0.88	T	0.52711	-0.8539	10	0.36615	T	0.2	.	12.4006	0.55410	0.0:0.92:0.0:0.08	.	1829	P02549	SPTA1_HUMAN	Q	1829	ENSP00000357130:E1829Q;ENSP00000357129:E1829Q	ENSP00000357129:E1829Q	E	-	1	0	SPTA1	156871037	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	4.326000	0.59241	1.633000	0.50488	0.650000	0.86243	GAG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	86	0.00	0	C	NM_003126		158604413	158604413	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	missense	267	17.08	55	SNP	1.000	G
TP53	7157	genome.wustl.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr17:7577085C>T	ENST00000269305.4	-	8	1042	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.E285K	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	285	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:1694291}.|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (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.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	TTCTCTTCCTCTGTGCGCCGG	0.562		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"""	165	Substitution - Missense(115)|Substitution - Nonsense(24)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	urinary_tract(53)|breast(18)|large_intestine(15)|lung(11)|upper_aerodigestive_tract(10)|stomach(8)|haematopoietic_and_lymphoid_tissue(8)|central_nervous_system(6)|oesophagus(6)|liver(6)|skin(5)|prostate(4)|bone(4)|biliary_tract(3)|ovary(3)|adrenal_gland(1)|soft_tissue(1)|eye(1)|pancreas(1)|thyroid(1)	GRCh37	CM995136	TP53	M	rs112431538						91.0	78.0	82.0					17																	7577085		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.853G>A	17.37:g.7577085C>T	ENSP00000269305:p.Glu285Lys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E285K	ENST00000269305.4	37	c.853	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703759	0.88924	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	4.99	4.99	0.66335	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.89904	3.07	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.87578	0.994;0.983;0.994;0.998	D	0.96661	0.9489	10	0.87932	D	0	-38.0538	15.807	0.78520	0.0:1.0:0.0:0.0	.	285;285;285;285	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	285;285;285;285;285;274;153	ENSP00000352610:E285K;ENSP00000269305:E285K;ENSP00000398846:E285K;ENSP00000391127:E285K;ENSP00000391478:E285K;ENSP00000425104:E153K	ENSP00000269305:E285K	E	-	1	0	TP53	7517810	1.000000	0.71417	0.900000	0.35374	0.716000	0.41182	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	48	0.00	0	C	NM_000546		7577085	7577085	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	47	54.81	57	SNP	0.995	T
TROVE2	6738	genome.wustl.edu	37	1	193038629	193038629	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr1:193038629C>T	ENST00000367446.3	+	2	655	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367443.1_Missense_Mutation_p.R149W|TROVE2_ENST00000400968.2_Missense_Mutation_p.R149W|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367444.3_Missense_Mutation_p.R149W|TROVE2_ENST00000367441.1_Missense_Mutation_p.R149W|TROVE2_ENST00000367445.3_Missense_Mutation_p.R149W	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	149	RNA-binding. {ECO:0000250}.|TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TCGTGCCCTCCGGAAGGCTAT	0.448																																						dbGAP											0													96.0	92.0	93.0					1																	193038629		1942	4141	6083	-	-	-	SO:0001583	missense	0			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.445C>T	1.37:g.193038629C>T	ENSP00000356416:p.Arg149Trp		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	pfam_TROVE,pfscan_TROVE	p.R149W	ENST00000367446.3	37	c.445	CCDS1379.1	1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810350	0.70797	.	.	ENSG00000116747	ENST00000400968;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441;ENST00000512587	T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74	5.75	3.68	0.42216	TROVE (2);	0.000000	0.85682	D	0.000000	T	0.57095	0.2030	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.68819	-0.5308	10	0.72032	D	0.01	-3.3768	15.4363	0.75149	0.3157:0.6843:0.0:0.0	.	149;149;149;149	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	W	149;149;149;149;149;149;90	ENSP00000383752:R149W;ENSP00000356416:R149W;ENSP00000356413:R149W;ENSP00000356415:R149W;ENSP00000356414:R149W;ENSP00000356411:R149W;ENSP00000424612:R90W	ENSP00000356411:R149W	R	+	1	2	TROVE2	191305252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.437000	0.44828	1.430000	0.47334	0.655000	0.94253	CGG	TROVE2	-	pfam_TROVE,pfscan_TROVE	ENSG00000116747		0.448	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	HGNC	protein_coding	OTTHUMT00000086688.1	46	0.00	0	C	NM_004600		193038629	193038629	+1	no_errors	ENST00000367441	ensembl	human	known	69_37n	missense	102	11.30	13	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179497253	179497253	+	Splice_Site	SNP	C	C	T			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr2:179497253C>T	ENST00000591111.1	-	185	38781	c.38557G>A	c.(38557-38559)Gga>Aga	p.G12853R	TTN_ENST00000589042.1_Splice_Site_p.G14494R|TTN_ENST00000460472.2_Splice_Site_p.G5429R|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.G5621R|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.G5554R|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.G11926R			Q8WZ42	TITIN_HUMAN	titin	12853					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTATTTACCTTCAATGATC	0.308																																						dbGAP											0													80.0	77.0	78.0					2																	179497253		1867	4086	5953	-	-	-	SO:0001630	splice_region_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.38557+1G>A	2.37:g.179497253C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G11926R	ENST00000591111.1	37	c.35776		2	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559884	0.45590	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63744	-0.06;0.15;0.16;0.12	6.1	6.1	0.99115	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.79375	0.4435	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.75822	-0.3182	8	.	.	.	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	5429;5554;5621;12853	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	11926;5429;5621;5554;5429	ENSP00000343764:G11926R;ENSP00000434586:G5429R;ENSP00000340554:G5621R;ENSP00000352154:G5554R	.	G	-	1	0	TTN	179205498	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.770000	0.85390	2.902000	0.99343	0.650000	0.86243	GGA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub	ENSG00000155657		0.308	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	76	0.00	0	C	NM_133378	Missense_Mutation	179497253	179497253	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	120	18.37	27	SNP	1.000	T
TUBA3C	7278	genome.wustl.edu	37	13	19752468	19752468	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr13:19752468T>A	ENST00000400113.3	-	3	397	c.293A>T	c.(292-294)gAt>gTt	p.D98V		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	98					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATTGGCCGCATCTTCCTTCCC	0.517																																						dbGAP											0													196.0	165.0	175.0					13																	19752468		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.293A>T	13.37:g.19752468T>A	ENSP00000382982:p.Asp98Val		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.D98V	ENST00000400113.3	37	c.293	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	t	13.22	2.172151	0.38315	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.71461	-0.57	1.53	1.53	0.23141	.	0.000000	0.48286	U	0.000195	T	0.73194	0.3556	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73522	-0.3956	7	0.87932	D	0	.	7.129	0.25488	0.0:0.0:0.0:1.0	.	.	.	.	V	98	ENSP00000382982:D98V	ENSP00000354037:D98V	D	-	2	0	TUBA3C	18650468	1.000000	0.71417	0.987000	0.45799	0.944000	0.59088	6.510000	0.73729	0.958000	0.37956	0.347000	0.21830	GAT	TUBA3C	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin,prints_Beta_tubulin	ENSG00000198033		0.517	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	84	0.00	0	T	NM_006001		19752468	19752468	-1	no_errors	ENST00000400113	ensembl	human	known	69_37n	missense	228	14.55	39	SNP	1.000	A
VPS13B	157680	genome.wustl.edu	37	8	100832306	100832306	+	Silent	SNP	C	C	T			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr8:100832306C>T	ENST00000358544.2	+	49	9136	c.9025C>T	c.(9025-9027)Cta>Tta	p.L3009L	VPS13B_ENST00000357162.2_Silent_p.L2984L|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3009					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAAAATTGTTCTACAGGTTCC	0.358																																					Colon(161;2205 2542 7338 31318)	dbGAP											0													101.0	108.0	105.0					8																	100832306		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9025C>T	8.37:g.100832306C>T			C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	pfam_Autophagy-rel_C	p.L3009	ENST00000358544.2	37	c.9025	CCDS6280.1	8																																																																																			VPS13B	-	NULL	ENSG00000132549		0.358	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	70	0.00	0	C	NM_184042		100832306	100832306	+1	no_errors	ENST00000358544	ensembl	human	known	69_37n	silent	165	13.16	25	SNP	1.000	T
WWC2	80014	genome.wustl.edu	37	4	184129264	184129264	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr4:184129264C>T	ENST00000403733.3	+	3	599	c.400C>T	c.(400-402)Cga>Tga	p.R134*	WWC2_ENST00000378925.3_Nonsense_Mutation_p.R36*|WWC2_ENST00000448232.2_Nonsense_Mutation_p.R134*|WWC2_ENST00000504005.1_5'Flank|WWC2_ENST00000513834.1_Nonsense_Mutation_p.R134*	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	134					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TGAATACGTGCGATTAAATGA	0.483																																						dbGAP											0													66.0	71.0	69.0					4																	184129264		2107	4218	6325	-	-	-	SO:0001587	stop_gained	0			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.400C>T	4.37:g.184129264C>T	ENSP00000384222:p.Arg134*		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Nonsense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.R134*	ENST00000403733.3	37	c.400	CCDS34109.2	4	.	.	.	.	.	.	.	.	.	.	C	38	6.899491	0.97920	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-11.2498	18.8047	0.92032	0.0:1.0:0.0:0.0	.	.	.	.	X	134;36;134;134	.	ENSP00000368205:R36X	R	+	1	2	WWC2	184366258	1.000000	0.71417	0.386000	0.26170	0.810000	0.45777	5.893000	0.69798	2.680000	0.91292	0.563000	0.77884	CGA	WWC2	-	NULL	ENSG00000151718		0.483	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC2	HGNC	protein_coding	OTTHUMT00000319608.1	22	0.00	0	C	NM_024949		184129264	184129264	+1	no_errors	ENST00000448232	ensembl	human	known	69_37n	nonsense	44	38.03	27	SNP	0.995	T
ZFP92	139735	genome.wustl.edu	37	X	152686448	152686448	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chrX:152686448G>A	ENST00000338647.5	+	4	614	c.613G>A	c.(613-615)Gag>Aag	p.E205K	U82695.10_ENST00000569962.1_lincRNA	NM_001136273.1	NP_001129745.1	A6NM28	ZFP92_HUMAN	ZFP92 zinc finger protein	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)	6						CCACAGCGGCGAGAAGCCCTA	0.657																																						dbGAP											0													31.0	31.0	31.0					X																	152686448		692	1591	2283	-	-	-	SO:0001583	missense	0			U82695	CCDS59177.1	Xq28	2013-01-08	2012-11-27		ENSG00000189420	ENSG00000189420		"""Zinc fingers, C2H2-type"", ""-"""	12865	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp92 in mouse"", ""zinc finger protein 92 homolog (mouse)"""				Standard	NM_001136273		Approved	ZNF897	uc011myo.2	A6NM28	OTTHUMG00000024198	ENST00000338647.5:c.613G>A	X.37:g.152686448G>A	ENSP00000462054:p.Glu205Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E205K	ENST00000338647.5	37	c.613	CCDS59177.1	X																																																																																			ZFP92	-	pfscan_Znf_C2H2	ENSG00000189420		0.657	ZFP92-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP92	HGNC	protein_coding	OTTHUMT00000332220.2	25	0.00	0	G			152686448	152686448	+1	no_errors	ENST00000338647	ensembl	human	known	69_37n	missense	53	15.87	10	SNP	0.999	A
ZNF284	342909	genome.wustl.edu	37	19	44590278	44590278	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr19:44590278C>T	ENST00000421176.3	+	5	863	c.647C>T	c.(646-648)tCa>tTa	p.S216L	ZNF223_ENST00000591793.1_3'UTR|RNU6-902P_ENST00000517212.1_RNA	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AGTCAGAACTCACAACTGCAA	0.408																																						dbGAP											0													73.0	78.0	76.0					19																	44590278		2193	4299	6492	-	-	-	SO:0001583	missense	0			AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.647C>T	19.37:g.44590278C>T	ENSP00000411032:p.Ser216Leu		Q86WM1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S216L	ENST00000421176.3	37	c.647	CCDS46099.1	19	.	.	.	.	.	.	.	.	.	.	C	9.832	1.188614	0.21954	.	.	ENSG00000186026	ENST00000421176	T	0.07444	3.19	2.59	1.53	0.23141	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14098	0.0341	M	0.87038	2.855	0.09310	N	1	B	0.23854	0.092	B	0.24006	0.05	T	0.18429	-1.0337	9	0.66056	D	0.02	.	6.3946	0.21605	0.0:0.7325:0.0:0.2675	.	216	Q2VY69	ZN284_HUMAN	L	216	ENSP00000411032:S216L	ENSP00000411032:S216L	S	+	2	0	ZNF284	49282118	0.000000	0.05858	0.003000	0.11579	0.191000	0.23601	0.337000	0.19841	0.404000	0.25506	0.462000	0.41574	TCA	ZNF284	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186026		0.408	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF284	HGNC	protein_coding	OTTHUMT00000460473.1	43	0.00	0	C	NM_001037813		44590278	44590278	+1	no_errors	ENST00000421176	ensembl	human	known	69_37n	missense	135	23.30	41	SNP	0.000	T
ZNF547	284306	genome.wustl.edu	37	19	57883271	57883271	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F2-01A-31D-A13L-09	TCGA-BH-A1F2-11A-32D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a5c67494-d843-4b14-ba9c-d077396ed2dc	3b15c929-09bb-49b8-914c-b0a5e32ddd3e	g.chr19:57883271C>T	ENST00000282282.3	+	3	296	c.146C>T	c.(145-147)tCa>tTa	p.S49L	AC003002.4_ENST00000597658.1_Missense_Mutation_p.S49L	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	49	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTTTGTCCTCACTAGGTAAG	0.542																																						dbGAP											0													382.0	346.0	358.0					19																	57883271		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.146C>T	19.37:g.57883271C>T	ENSP00000282282:p.Ser49Leu		A8K5Z9|Q96NC4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S49L	ENST00000282282.3	37	c.146	CCDS33131.1	19	.	.	.	.	.	.	.	.	.	.	C	9.309	1.055031	0.19907	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.03004	4.08	2.01	2.01	0.26516	Krueppel-associated box (4);	.	.	.	.	T	0.10809	0.0264	M	0.87758	2.905	0.09310	N	1	D;P	0.56035	0.974;0.895	P;P	0.49665	0.618;0.53	T	0.11421	-1.0588	9	0.62326	D	0.03	.	6.5328	0.22336	0.0:0.694:0.306:0.0	.	49;49	Q8IVP9-2;Q8IVP9	.;ZN547_HUMAN	L	49	ENSP00000282282:S49L	ENSP00000282282:S49L	S	+	2	0	ZNF547	62575083	0.001000	0.12720	0.008000	0.14137	0.010000	0.07245	0.337000	0.19841	1.438000	0.47492	0.561000	0.74099	TCA	ZNF547	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000152433		0.542	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF547	HGNC	protein_coding	OTTHUMT00000465787.1	137	0.00	0	C	NM_173631		57883271	57883271	+1	no_errors	ENST00000282282	ensembl	human	known	69_37n	missense	419	18.45	95	SNP	0.042	T
