#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
AK5	26289	genome.wustl.edu	37	1	77984336	77984336	+	Missense_Mutation	SNP	G	G	A	rs61746349		TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr1:77984336G>A	ENST00000354567.2	+	11	1498	c.1235G>A	c.(1234-1236)cGt>cAt	p.R412H	AK5_ENST00000344720.5_Missense_Mutation_p.R386H	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	412	Adenylate kinase 2.|NMPbind 2. {ECO:0000250}.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GAGCTCCTGCGTGAGGAACTG	0.483																																						dbGAP											0													102.0	89.0	94.0					1																	77984336		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1235G>A	1.37:g.77984336G>A	ENSP00000346577:p.Arg412His		Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1	p.R412H	ENST00000354567.2	37	c.1235	CCDS675.1	1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595904	0.46318	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	D;D	0.87029	-2.2;-2.2	5.21	2.29	0.28610	.	0.725287	0.12863	N	0.432992	D	0.85141	0.5629	M	0.92077	3.27	0.80722	D	1	D	0.54047	0.964	B	0.42798	0.398	D	0.84926	0.0857	10	0.87932	D	0	-3.0E-4	7.5324	0.27691	0.4042:0.0:0.5958:0.0	rs61746349	412	Q9Y6K8	KAD5_HUMAN	H	412;386	ENSP00000346577:R412H;ENSP00000341430:R386H	ENSP00000341430:R386H	R	+	2	0	AK5	77756924	0.998000	0.40836	0.663000	0.29738	0.489000	0.33432	2.752000	0.47516	0.713000	0.32060	0.655000	0.94253	CGT	AK5	-	pfam_Adenylate_kin,prints_Adenylate_kin,tigrfam_Adenylate_kin1	ENSG00000154027		0.483	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK5	HGNC	protein_coding	OTTHUMT00000026993.4	40	0.00	0	G	NM_174858		77984336	77984336	+1	no_errors	ENST00000354567	ensembl	human	known	69_37n	missense	66	24.14	21	SNP	0.761	A
APOBR	55911	genome.wustl.edu	37	16	28506765	28506765	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr16:28506765C>T	ENST00000431282.1	+	2	413	c.403C>T	c.(403-405)Cac>Tac	p.H135Y	APOBR_ENST00000328423.5_Missense_Mutation_p.H135Y|CLN3_ENST00000569430.1_5'UTR|APOBR_ENST00000564831.1_Missense_Mutation_p.H135Y|CLN3_ENST00000567160.1_5'UTR			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	135					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCAAGCGCCCACTTGGAGGC	0.642																																						dbGAP											0													11.0	14.0	13.0					16																	28506765		1966	4135	6101	-	-	-	SO:0001583	missense	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.403C>T	16.37:g.28506765C>T	ENSP00000416094:p.His135Tyr		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.H135Y	ENST00000431282.1	37	c.403		16	.	.	.	.	.	.	.	.	.	.	C	0.461	-0.889014	0.02511	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.58210	0.35;0.35	5.15	0.57	0.17347	.	.	.	.	.	T	0.31358	0.0794	N	0.19112	0.55	0.09310	N	1	B	0.15473	0.013	B	0.21708	0.036	T	0.20273	-1.0280	9	0.24483	T	0.36	2.0722	3.6509	0.08203	0.1322:0.5714:0.1297:0.1667	.	135	Q9NS13	.	Y	135	ENSP00000327669:H135Y;ENSP00000416094:H135Y	ENSP00000327669:H135Y	H	+	1	0	APOBR	28414266	0.000000	0.05858	0.002000	0.10522	0.036000	0.12997	0.413000	0.21148	0.630000	0.30394	0.552000	0.68991	CAC	APOBR	-	NULL	ENSG00000184730		0.642	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		19	0.00	0	C	NM_182804		28506765	28506765	+1	no_errors	ENST00000564831	ensembl	human	known	69_37n	missense	27	68.24	58	SNP	0.000	T
ARAF	369	genome.wustl.edu	37	X	47430836	47430836	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chrX:47430836G>A	ENST00000377045.4	+	16	1995	c.1801G>A	c.(1801-1803)Gca>Aca	p.A601T	ARAF_ENST00000470206.1_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	601					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CCTACTCAGCGCAGCCCGCCT	0.637																																						dbGAP											0													43.0	30.0	34.0					X																	47430836		2203	4298	6501	-	-	-	SO:0001583	missense	0			X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.1801G>A	X.37:g.47430836G>A	ENSP00000366244:p.Ala601Thr		P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.A601T	ENST00000377045.4	37	c.1801	CCDS35232.1	X	.	.	.	.	.	.	.	.	.	.	g	1.699	-0.501964	0.04261	.	.	ENSG00000078061	ENST00000377045	T	0.73681	-0.77	5.26	2.51	0.30379	.	0.191772	0.44902	D	0.000413	T	0.29817	0.0745	N	0.00289	-1.7	0.80722	D	1	B	0.15719	0.014	B	0.11329	0.006	T	0.06534	-1.0821	10	0.09590	T	0.72	.	3.3357	0.07100	0.299:0.0:0.5162:0.1847	.	601	P10398	ARAF_HUMAN	T	601	ENSP00000366244:A601T	ENSP00000366244:A601T	A	+	1	0	ARAF	47315780	0.930000	0.31532	0.998000	0.56505	0.964000	0.63967	0.546000	0.23284	0.543000	0.28864	0.525000	0.51046	GCA	ARAF	-	NULL	ENSG00000078061		0.637	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ARAF	HGNC	protein_coding	OTTHUMT00000056418.1	19	0.00	0	G			47430836	47430836	+1	no_errors	ENST00000377045	ensembl	human	known	69_37n	missense	18	37.93	11	SNP	0.983	A
BTNL8	79908	genome.wustl.edu	37	5	180377494	180377494	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr5:180377494G>A	ENST00000340184.4	+	8	1659	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.E278K|BTNL8_ENST00000511704.1_Missense_Mutation_p.E369K|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.E360K|BTNL8_ENST00000533815.2_Missense_Mutation_p.E301K	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	485					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCAACAGTGAGTCCTCCTC	0.517																																						dbGAP											0													73.0	63.0	66.0					5																	180377494		1902	3794	5696	-	-	-	SO:0001583	missense	0			AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.1453G>A	5.37:g.180377494G>A	ENSP00000342197:p.Glu485Lys		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.E485K	ENST00000340184.4	37	c.1453	CCDS43413.1	5	.	.	.	.	.	.	.	.	.	.	G	9.090	1.001437	0.19121	.	.	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T	0.62105	1.23;0.55;0.52;0.05;0.12	1.28	0.359	0.16088	.	.	.	.	.	T	0.35158	0.0922	N	0.08118	0	0.09310	N	1	B;B;B	0.21225	0.053;0.053;0.019	B;B;B	0.09377	0.004;0.004;0.004	T	0.18147	-1.0346	9	0.49607	T	0.09	.	3.5957	0.08005	0.2666:0.0:0.7334:0.0	.	360;369;485	E9PG07;E9PEF6;Q6UX41	.;.;BTNL8_HUMAN	K	485;360;369;278;301	ENSP00000342197:E485K;ENSP00000383543:E360K;ENSP00000425207:E369K;ENSP00000427441:E278K;ENSP00000435098:E301K	ENSP00000342197:E485K	E	+	1	0	BTNL8	180310100	0.007000	0.16637	0.000000	0.03702	0.001000	0.01503	1.054000	0.30455	0.118000	0.18165	0.423000	0.28283	GAG	BTNL8	-	NULL	ENSG00000113303		0.517	BTNL8-002	KNOWN	basic|CCDS	protein_coding	BTNL8	HGNC	protein_coding	OTTHUMT00000368440.1	13	0.00	0	G	NM_024850		180377494	180377494	+1	no_errors	ENST00000340184	ensembl	human	known	69_37n	missense	38	40.62	26	SNP	0.001	A
C17orf97	400566	genome.wustl.edu	37	17	263622	263622	+	Missense_Mutation	SNP	A	A	G	rs71369083|rs71145728|rs76926791	byFrequency	TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr17:263622A>G	ENST00000360127.6	+	2	1004	c.988A>G	c.(988-990)Aag>Gag	p.K330E	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	360	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCCGACCCCAAGGCCCTCAA	0.706																																						dbGAP											0													13.0	18.0	17.0					17																	263622		2111	4164	6275	-	-	-	SO:0001583	missense	0			AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.988A>G	17.37:g.263622A>G	ENSP00000353245:p.Lys330Glu		A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	NULL	p.K330E	ENST00000360127.6	37	c.988	CCDS32519.2	17	409	0.18727106227106227	139	0.28252032520325204	73	0.20165745856353592	110	0.19230769230769232	87	0.11477572559366754	A	0	-2.741325	0.00087	.	.	ENSG00000187624	ENST00000360127	T	0.30182	1.54	2.05	-4.1	0.03940	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.20739	-1.0266	8	0.02654	T	1	.	1.1358	0.01755	0.4018:0.196:0.2673:0.1349	.	330	Q6ZQX7-4	.	E	330	ENSP00000353245:K330E	ENSP00000353245:K330E	K	+	1	0	C17orf97	263968	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.402000	0.07223	-2.779000	0.00361	-1.216000	0.01612	AAG	C17orf97	-	NULL	ENSG00000187624		0.706	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C17orf97	HGNC	protein_coding	OTTHUMT00000255648.4	8	0.00	0	A	NM_001013672		263622	263622	+1	no_errors	ENST00000360127	ensembl	human	known	69_37n	missense	6	57.14	8	SNP	0.000	G
CFAP74	85452	genome.wustl.edu	37	1	1854530	1854530	+	IGR	SNP	A	A	G			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr1:1854530A>G								TMEM52 (3818 upstream) : C1orf222 (65032 downstream)																							CAGGGTCACCAGGATGGGCCT	0.652																																						dbGAP											0													38.0	39.0	38.0					1																	1854530		2200	4300	6500	-	-	-	SO:0001628	intergenic_variant	0																															1.37:g.1854530A>G				Missense_Mutation	SNP	superfamily_PapD-like	p.L799P		37	c.2396		1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.686636	0.29962	.	.	ENSG00000142609	ENST00000493964	T	0.46063	0.88	3.01	3.01	0.34805	.	0.104542	0.38492	N	0.001661	T	0.59335	0.2186	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.60058	-0.7337	10	0.44086	T	0.13	.	9.744	0.40435	1.0:0.0:0.0:0.0	.	192	Q69YW0	CA222_HUMAN	P	799	ENSP00000417061:L799P	ENSP00000417061:L799P	L	-	2	0	C1orf222	1844390	0.993000	0.37304	0.999000	0.59377	0.262000	0.26303	2.988000	0.49386	1.623000	0.50342	0.402000	0.26972	CTG	C1orf222	-	NULL	ENSG00000142609	0	0.652					C1orf222	HGNC			38	0.00	0	A			1854530	1854530	-1	no_start_codon	ENST00000493964	ensembl	human	putative	69_37n	missense	29	46.30	25	SNP	1.000	G
CNOT1	23019	genome.wustl.edu	37	16	58589747	58589747	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr16:58589747T>A	ENST00000317147.5	-	20	2877	c.2545A>T	c.(2545-2547)Aac>Tac	p.N849Y	CNOT1_ENST00000569240.1_Missense_Mutation_p.N844Y|CNOT1_ENST00000441024.2_Missense_Mutation_p.N849Y|CNOT1_ENST00000569732.1_5'UTR	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	849	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAATAGCTGTTTGCTTCATCA	0.413																																						dbGAP											0													220.0	174.0	190.0					16																	58589747		2198	4300	6498	-	-	-	SO:0001583	missense	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2545A>T	16.37:g.58589747T>A	ENSP00000320949:p.Asn849Tyr		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.N849Y	ENST00000317147.5	37	c.2545	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	T	32	5.179404	0.94846	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.56275	0.52;0.47	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.79528	0.4461	M	0.92691	3.335	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.994;0.994;1.0	D	0.84767	0.0765	10	0.87932	D	0	.	16.2965	0.82776	0.0:0.0:0.0:1.0	.	849;849;844	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	Y	849;278;844;849	ENSP00000320949:N849Y;ENSP00000413113:N849Y	ENSP00000320949:N849Y	N	-	1	0	CNOT1	57147248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.243000	0.73865	0.528000	0.53228	AAC	CNOT1	-	NULL	ENSG00000125107		0.413	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	92	0.00	0	T	NM_016284		58589747	58589747	-1	no_errors	ENST00000317147	ensembl	human	known	69_37n	missense	101	19.84	25	SNP	1.000	A
CENPBD1	92806	genome.wustl.edu	37	16	90038321	90038321	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr16:90038321C>T	ENST00000314994.3	-	1	621	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	AFG3L1P_ENST00000437774.1_RNA|RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_Intron	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	4						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(2)	3						GTGGGCCTTTCCCCAGGCATT	0.512																																						dbGAP											0													34.0	37.0	36.0					16																	90038321		2023	4186	6209	-	-	-	SO:0001583	missense	0			AK056131	CCDS45556.1	16q24.3	2009-08-26			ENSG00000177946	ENSG00000177946			28272	protein-coding gene	gene with protein product							Standard	NM_145039		Approved	MGC16385	uc002fpr.3	B2RD01		ENST00000314994.3:c.10G>A	16.37:g.90038321C>T	ENSP00000393854:p.Glu4Lys			Missense_Mutation	SNP	pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	p.E4K	ENST00000314994.3	37	c.10	CCDS45556.1	16	.	.	.	.	.	.	.	.	.	.	c	6.936	0.542446	0.13250	.	.	ENSG00000177946	ENST00000314994	T	0.40225	1.04	4.22	-0.709	0.11237	.	.	.	.	.	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27839	-1.0062	9	0.02654	T	1	.	3.1852	0.06598	0.179:0.3116:0.0:0.5094	.	4	B2RD01	CENP1_HUMAN	K	4	ENSP00000393854:E4K	ENSP00000393854:E4K	E	-	1	0	CENPBD1	88565822	0.001000	0.12720	0.002000	0.10522	0.018000	0.09664	-0.414000	0.07114	-0.377000	0.07930	-1.546000	0.00904	GAA	CENPBD1	-	NULL	ENSG00000177946		0.512	CENPBD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPBD1	HGNC	protein_coding	OTTHUMT00000421897.1	11	0.00	0	C	NM_145039		90038321	90038321	-1	no_errors	ENST00000314994	ensembl	human	known	69_37n	missense	2	66.67	6	SNP	0.005	T
COL9A3	1299	genome.wustl.edu	37	20	61467665	61467665	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr20:61467665A>T	ENST00000343916.3	+	28	1531	c.1528A>T	c.(1528-1530)Acg>Tcg	p.T510S	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	510	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TCCTGGCATCACGGGGAAGCC	0.632																																						dbGAP											0													36.0	44.0	41.0					20																	61467665		2200	4299	6499	-	-	-	SO:0001583	missense	0			AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1528A>T	20.37:g.61467665A>T	ENSP00000341640:p.Thr510Ser		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	pfam_Collagen	p.T510S	ENST00000343916.3	37	c.1528	CCDS13505.1	20	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887421	0.33348	.	.	ENSG00000092758	ENST00000343916	D	0.93307	-3.2	4.63	4.63	0.57726	.	0.168688	0.52532	D	0.000075	D	0.86932	0.6052	L	0.35593	1.075	0.30833	N	0.736485	B	0.31153	0.31	B	0.28638	0.092	T	0.79381	-0.1827	10	0.06494	T	0.89	.	14.0437	0.64693	1.0:0.0:0.0:0.0	.	510	Q14050	CO9A3_HUMAN	S	510	ENSP00000341640:T510S	ENSP00000341640:T510S	T	+	1	0	COL9A3	60938110	0.939000	0.31865	0.945000	0.38365	0.122000	0.20287	1.600000	0.36762	1.720000	0.51447	0.459000	0.35465	ACG	COL9A3	-	pfam_Collagen	ENSG00000092758		0.632	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A3	HGNC	protein_coding	OTTHUMT00000080071.2	33	0.00	0	A	NM_001853		61467665	61467665	+1	no_errors	ENST00000343916	ensembl	human	known	69_37n	missense	24	47.83	22	SNP	0.995	T
DEPDC5	9681	genome.wustl.edu	37	22	32188070	32188070	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr22:32188070T>A	ENST00000382112.3	+	10	746	c.676T>A	c.(676-678)Tat>Aat	p.Y226N	DEPDC5_ENST00000400249.2_Missense_Mutation_p.Y226N|DEPDC5_ENST00000382105.2_Missense_Mutation_p.Y226N|DEPDC5_ENST00000535622.1_Missense_Mutation_p.Y226N|DEPDC5_ENST00000400242.3_Missense_Mutation_p.Y226N|DEPDC5_ENST00000266091.3_Missense_Mutation_p.Y226N|DEPDC5_ENST00000382111.2_Missense_Mutation_p.Y226N|DEPDC5_ENST00000400246.1_Missense_Mutation_p.Y226N|DEPDC5_ENST00000400248.2_Missense_Mutation_p.Y226N|DEPDC5_ENST00000536766.1_Missense_Mutation_p.Y198N	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	226					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TAGAACTTTCTATGATGCAAA	0.388																																						dbGAP											0													152.0	143.0	146.0					22																	32188070		1862	4105	5967	-	-	-	SO:0001583	missense	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.676T>A	22.37:g.32188070T>A	ENSP00000371546:p.Tyr226Asn		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.Y226N	ENST00000382112.3	37	c.676	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	-	23.7	4.443135	0.83993	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.58210	0.83;0.87;0.35;1.2;1.23;1.16;0.81;1.22;1.16;1.23	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.78168	0.4241	M	0.90870	3.155	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;0.998	D;D;D;D;D;D	0.91635	0.997;0.974;0.999;0.986;0.995;0.974	T	0.83328	-0.0014	10	0.72032	D	0.01	.	14.7907	0.69841	0.0:0.0:0.0:1.0	.	226;198;226;226;226;226	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	N	226;198;226;226;226;226;226;226;226;226;226	ENSP00000440210:Y226N;ENSP00000441358:Y198N;ENSP00000383101:Y226N;ENSP00000266091:Y226N;ENSP00000383108:Y226N;ENSP00000383105:Y226N;ENSP00000371539:Y226N;ENSP00000371546:Y226N;ENSP00000371545:Y226N;ENSP00000383107:Y226N	ENSP00000266091:Y226N	Y	+	1	0	DEPDC5	30518070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.996000	0.76263	2.173000	0.68751	0.515000	0.50301	TAT	DEPDC5	-	pfam_DUF3608	ENSG00000100150		0.388	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	120	0.00	0	T	NM_014662		32188070	32188070	+1	no_errors	ENST00000266091	ensembl	human	known	69_37n	missense	125	13.19	19	SNP	1.000	A
FAM110A	83541	genome.wustl.edu	37	20	826097	826097	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr20:826097G>T	ENST00000304189.2	+	3	1031	c.650G>T	c.(649-651)aGa>aTa	p.R217I	FAM110A_ENST00000381941.3_Missense_Mutation_p.R217I|FAM110A_ENST00000381939.1_Missense_Mutation_p.R217I|FAM110A_ENST00000246100.3_Missense_Mutation_p.R217I|FAM110A_ENST00000541082.1_Missense_Mutation_p.R217I			Q9BQ89	F110A_HUMAN	family with sequence similarity 110, member A	217						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|lung(2)	3						GAGGAGGCGAGAGGGTTGGGT	0.657																																						dbGAP											0													16.0	18.0	17.0					20																	826097		2203	4296	6499	-	-	-	SO:0001583	missense	0			BC012800	CCDS13008.1	20p13	2007-06-21	2007-03-21	2007-03-21	ENSG00000125898	ENSG00000125898			16188	protein-coding gene	gene with protein product		611393	"""chromosome 20 open reading frame 55"""	C20orf55		17499476	Standard	NM_001042353		Approved	bA371L19.3	uc002wef.1	Q9BQ89	OTTHUMG00000031649	ENST00000304189.2:c.650G>T	20.37:g.826097G>T	ENSP00000354163:p.Arg217Ile		D3DVW2|Q5R1M7	Missense_Mutation	SNP	NULL	p.R217I	ENST00000304189.2	37	c.650	CCDS13008.1	20	.	.	.	.	.	.	.	.	.	.	.	18.31	3.596552	0.66332	.	.	ENSG00000125898	ENST00000381941;ENST00000304189;ENST00000381939;ENST00000246100;ENST00000541082	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.58	3.6	0.41247	.	0.257992	0.30649	N	0.009166	T	0.38161	0.1030	N	0.08118	0	0.36606	D	0.874954	D	0.71674	0.998	D	0.65323	0.934	T	0.49670	-0.8915	10	0.62326	D	0.03	3.1265	9.6468	0.39872	0.1602:0.0:0.8398:0.0	.	217	Q9BQ89	F110A_HUMAN	I	217	ENSP00000371367:R217I;ENSP00000354163:R217I;ENSP00000371365:R217I;ENSP00000246100:R217I;ENSP00000445228:R217I	ENSP00000246100:R217I	R	+	2	0	FAM110A	774097	0.377000	0.25106	0.675000	0.29917	0.877000	0.50540	1.970000	0.40520	2.391000	0.81399	0.305000	0.20034	AGA	FAM110A	-	NULL	ENSG00000125898		0.657	FAM110A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM110A	HGNC	protein_coding	OTTHUMT00000077489.1	18	0.00	0	G	NM_031424		826097	826097	+1	no_errors	ENST00000246100	ensembl	human	known	69_37n	missense	22	18.52	5	SNP	0.711	T
FRG2B	441581	genome.wustl.edu	37	10	135439803	135439803	+	Silent	SNP	C	C	T	rs202189720		TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr10:135439803C>T	ENST00000425520.1	-	2	235	c.183G>A	c.(181-183)tcG>tcA	p.S61S	FRG2B_ENST00000443774.1_Silent_p.S62S	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	61						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GATTGGGCTCCGATCCTGCTG	0.488																																						dbGAP											0													1.0	1.0	1.0					10																	135439803		23	64	87	-	-	-	SO:0001819	synonymous_variant	0			AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.183G>A	10.37:g.135439803C>T			Q5VSQ1	Silent	SNP	NULL	p.S62	ENST00000425520.1	37	c.186	CCDS44502.1	10																																																																																			FRG2B	-	NULL	ENSG00000225899		0.488	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FRG2B	HGNC	protein_coding	OTTHUMT00000467780.1	9	0.00	0	C	NM_001080998		135439803	135439803	-1	no_errors	ENST00000443774	ensembl	human	known	69_37n	silent	16	30.43	7	SNP	0.213	T
GPANK1	7918	genome.wustl.edu	37	6	31631634	31631634	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr6:31631634T>A	ENST00000375906.1	-	3	1306	c.622A>T	c.(622-624)Aac>Tac	p.N208Y	CSNK2B_ENST00000375885.4_5'Flank|GPANK1_ENST00000375896.4_Missense_Mutation_p.N208Y|CSNK2B-LY6G5B-1181_ENST00000375880.2_5'Flank|CSNK2B_ENST00000375865.2_5'Flank|CSNK2B_ENST00000375866.2_5'Flank|CSNK2B_ENST00000375882.2_5'Flank|GPANK1_ENST00000375893.2_Missense_Mutation_p.N208Y|GPANK1_ENST00000375895.2_Missense_Mutation_p.N208Y|GPANK1_ENST00000375900.4_Missense_Mutation_p.N208Y|Y_RNA_ENST00000364337.1_RNA	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	208							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						CCTTACCGGTTTTCCGGGCTC	0.587																																						dbGAP											0													113.0	118.0	117.0					6																	31631634		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"""Ankyrin repeat domain containing"", ""G patch domain containing"""	13920	protein-coding gene	gene with protein product	"""G patch domain containing 10"", ""ankyrin repeat domain 59"""	142610	"""HLA-B associated transcript 4"""	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.622A>T	6.37:g.31631634T>A	ENSP00000365071:p.Asn208Tyr		A6NG25|B0UXA2|Q5SQ49	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_Ankyrin_rpt-contain_dom,smart_G_patch_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_G_patch_dom	p.N208Y	ENST00000375906.1	37	c.622	CCDS4711.1	6	.	.	.	.	.	.	.	.	.	.	T	13.75	2.330463	0.41297	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900	T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96	5.42	5.42	0.78866	Ankyrin repeat-containing domain (2);	0.510214	0.20332	N	0.094410	T	0.18130	0.0435	M	0.62723	1.935	0.37267	D	0.90724	D	0.65815	0.995	D	0.64410	0.925	T	0.01015	-1.1480	10	0.72032	D	0.01	.	11.9042	0.52701	0.0:0.0:0.0:1.0	.	208	O95872	GPAN1_HUMAN	Y	208	ENSP00000365071:N208Y;ENSP00000365060:N208Y;ENSP00000365057:N208Y;ENSP00000365059:N208Y;ENSP00000365065:N208Y	ENSP00000365057:N208Y	N	-	1	0	GPANK1	31739613	0.038000	0.19896	0.991000	0.47740	0.061000	0.15899	1.280000	0.33202	2.064000	0.61679	0.454000	0.30748	AAC	GPANK1	-	pfscan_Ankyrin_rpt-contain_dom	ENSG00000204438		0.587	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPANK1	HGNC	protein_coding	OTTHUMT00000144445.2	63	0.00	0	T	NM_033177		31631634	31631634	-1	no_errors	ENST00000375893	ensembl	human	known	69_37n	missense	49	24.62	16	SNP	0.983	A
GREB1L	80000	genome.wustl.edu	37	18	18983893	18983893	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr18:18983893C>T	ENST00000580732.2	+	7	1151	c.770C>T	c.(769-771)tCg>tTg	p.S257L	GREB1L_ENST00000269218.6_Missense_Mutation_p.S257L|GREB1L_ENST00000431264.1_Missense_Mutation_p.S257L|RP11-296E23.1_ENST00000584611.1_RNA|GREB1L_ENST00000578368.1_3'UTR|GREB1L_ENST00000424526.1_Missense_Mutation_p.S257L|GREB1L_ENST00000400483.4_Missense_Mutation_p.S257L			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	257				S -> V (in Ref. 3; AAI25018). {ECO:0000305}.		integral component of membrane (GO:0016021)		p.S257*(1)|p.S258*(1)		breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						TCTTCAGTGTCGTCAACTGTG	0.403																																						dbGAP											2	Substitution - Nonsense(2)	lung(2)											205.0	185.0	191.0					18																	18983893		692	1591	2283	-	-	-	SO:0001583	missense	0			AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.770C>T	18.37:g.18983893C>T	ENSP00000464162:p.Ser257Leu		A4QN17|Q9H8F1	Missense_Mutation	SNP	NULL	p.S257L	ENST00000580732.2	37	c.770	CCDS45836.1	18	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871270	0.72065	.	.	ENSG00000141449	ENST00000424526;ENST00000269218;ENST00000400483;ENST00000431264	T;T;T;T	0.15603	3.16;3.14;2.42;2.41	5.34	5.34	0.76211	.	.	.	.	.	T	0.22589	0.0545	M	0.62723	1.935	0.40977	D	0.984742	P;D	0.56746	0.883;0.977	B;B	0.40038	0.285;0.317	T	0.09840	-1.0656	9	0.66056	D	0.02	.	19.0541	0.93056	0.0:1.0:0.0:0.0	.	257;257	Q9C091;Q9C091-2	GRB1L_HUMAN;.	L	257	ENSP00000412060:S257L;ENSP00000269218:S257L;ENSP00000383331:S257L;ENSP00000393125:S257L	ENSP00000269218:S257L	S	+	2	0	GREB1L	17237891	0.993000	0.37304	1.000000	0.80357	0.973000	0.67179	2.881000	0.48538	2.506000	0.84524	0.655000	0.94253	TCG	GREB1L	-	NULL	ENSG00000141449		0.403	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	GREB1L	HGNC	protein_coding	OTTHUMT00000443782.2	98	0.00	0	C	NM_024935		18983893	18983893	+1	no_errors	ENST00000424526	ensembl	human	known	69_37n	missense	232	12.78	34	SNP	1.000	T
ILF2	3608	genome.wustl.edu	37	1	153635506	153635506	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr1:153635506G>T	ENST00000361891.4	-	12	1035	c.910C>A	c.(910-912)Cta>Ata	p.L304I	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	304	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTGTTCTAGGGTCATGACT	0.498																																						dbGAP											0													86.0	83.0	84.0					1																	153635506		2203	4300	6503	-	-	-	SO:0001583	missense	0			U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"""interleukin enhancer binding factor 2, 45kD"", ""interleukin enhancer binding factor 2, 45kDa"""			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.910C>A	1.37:g.153635506G>T	ENSP00000355011:p.Leu304Ile		A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Missense_Mutation	SNP	pfam_DZF,smart_DZF,pfscan_2-5-oligoadenylate_synth_N	p.L304I	ENST00000361891.4	37	c.910	CCDS1050.1	1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542375	0.65198	.	.	ENSG00000143621	ENST00000361891	T	0.52754	0.65	5.28	2.27	0.28462	DZF (2);	0.068320	0.64402	D	0.000012	T	0.52709	0.1751	M	0.87547	2.89	0.80722	D	1	D;D	0.59357	0.981;0.985	P;P	0.60236	0.796;0.871	T	0.55237	-0.8172	10	0.42905	T	0.14	-5.9839	7.1926	0.25834	0.2921:0.0:0.7079:0.0	.	304;304	F4ZW62;Q12905	.;ILF2_HUMAN	I	304	ENSP00000355011:L304I	ENSP00000355011:L304I	L	-	1	2	ILF2	151902130	0.994000	0.37717	0.999000	0.59377	0.990000	0.78478	2.109000	0.41863	0.758000	0.33059	0.655000	0.94253	CTA	ILF2	-	pfam_DZF,smart_DZF	ENSG00000143621		0.498	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF2	HGNC	protein_coding	OTTHUMT00000090040.1	54	0.00	0	G	NM_004515		153635506	153635506	-1	no_errors	ENST00000361891	ensembl	human	known	69_37n	missense	89	36.43	51	SNP	1.000	T
LRP1B	53353	genome.wustl.edu	37	2	141806577	141806577	+	Silent	SNP	C	C	T	rs570115097		TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr2:141806577C>T	ENST00000389484.3	-	11	2738	c.1767G>A	c.(1765-1767)gaG>gaA	p.E589E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	589					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGTTTCTCTCTCTGTGCCAT	0.423										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0													161.0	148.0	152.0					2																	141806577		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1767G>A	2.37:g.141806577C>T			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E589	ENST00000389484.3	37	c.1767	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000168702		0.423	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	98	0.00	0	C	NM_018557		141806577	141806577	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	silent	167	38.83	106	SNP	0.009	T
LRRC16B	90668	genome.wustl.edu	37	14	24538005	24538005	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr14:24538005C>G	ENST00000342740.5	+	38	3966	c.3812C>G	c.(3811-3813)cCc>cGc	p.P1271R	LRRC16B_ENST00000334420.7_Missense_Mutation_p.P324R|CPNE6_ENST00000537691.1_5'Flank|CPNE6_ENST00000216775.2_5'Flank|CPNE6_ENST00000397016.2_5'Flank	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1271						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CTACAGGACCCCGCTCTAGCT	0.637																																						dbGAP											0													37.0	36.0	36.0					14																	24538005		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3812C>G	14.37:g.24538005C>G	ENSP00000340467:p.Pro1271Arg		Q8TEF7|Q96HS9	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.P1271R	ENST00000342740.5	37	c.3812	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532603	0.27387	.	.	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.58652	0.32;0.32	4.42	3.43	0.39272	.	0.221928	0.23249	N	0.050280	T	0.51601	0.1684	N	0.14661	0.345	0.23107	N	0.998281	D;D	0.69078	0.997;0.989	P;P	0.61658	0.881;0.892	T	0.36648	-0.9739	10	0.87932	D	0	-24.1296	6.485	0.22083	0.0:0.8658:0.0:0.1342	.	324;1271	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	R	1271;324	ENSP00000340467:P1271R;ENSP00000334701:P324R	ENSP00000334701:P324R	P	+	2	0	LRRC16B	23607845	0.260000	0.24053	0.735000	0.30896	0.048000	0.14542	2.188000	0.42612	2.279000	0.76181	0.561000	0.74099	CCC	LRRC16B	-	NULL	ENSG00000186648		0.637	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	26	0.00	0	C	NM_138360		24538005	24538005	+1	no_errors	ENST00000342740	ensembl	human	known	69_37n	missense	54	14.29	9	SNP	0.390	G
MAP3K1	4214	genome.wustl.edu	37	5	56160644	56160644	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr5:56160644delC	ENST00000399503.3	+	4	918	c.918delC	c.(916-918)cgcfs	p.R307fs	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	307					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AAACAAACCGCCGTGTTAACA	0.493																																						dbGAP											0													89.0	91.0	90.0					5																	56160644		1900	4104	6004	-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.918delC	5.37:g.56160644delC	ENSP00000382423:p.Arg307fs			Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.R307fs	ENST00000399503.3	37	c.918	CCDS43318.1	5																																																																																			MAP3K1	-	NULL	ENSG00000095015		0.493	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	52	0.00	0	C	XM_042066		56160644	56160644	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_del	70	41.32	50	DEL	1.000	-
MAP3K1	4214	genome.wustl.edu	37	5	56178169	56178169	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr5:56178169C>T	ENST00000399503.3	+	14	3142	c.3142C>T	c.(3142-3144)Cag>Tag	p.Q1048*		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1048					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGTCTTTACTCAGTCAAGACC	0.438																																						dbGAP											0													74.0	72.0	72.0					5																	56178169		1873	4094	5967	-	-	-	SO:0001587	stop_gained	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3142C>T	5.37:g.56178169C>T	ENSP00000382423:p.Gln1048*			Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.Q1048*	ENST00000399503.3	37	c.3142	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	C	39	7.642573	0.98406	.	.	ENSG00000095015	ENST00000399503	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	.	.	.	X	1048	.	ENSP00000382423:Q1048X	Q	+	1	0	MAP3K1	56213926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.473000	0.73572	2.778000	0.95560	0.655000	0.94253	CAG	MAP3K1	-	NULL	ENSG00000095015		0.438	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	41	0.00	0	C	XM_042066		56178169	56178169	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	nonsense	41	37.88	25	SNP	1.000	T
PDE1B	5153	genome.wustl.edu	37	12	54971012	54971012	+	Missense_Mutation	SNP	T	T	A	rs183676395	byFrequency	TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr12:54971012T>A	ENST00000243052.3	+	15	1947	c.1511T>A	c.(1510-1512)aTc>aAc	p.I504N	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.I484N|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.I463N	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	504					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TCTACAGGCATCACCAACCAG	0.512													T|||	4	0.000798722	0.0	0.0058	5008	,	,		19443	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													129.0	124.0	126.0					12																	54971012		2203	4300	6503	-	-	-	SO:0001583	missense	0			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1511T>A	12.37:g.54971012T>A	ENSP00000243052:p.Ile504Asn		Q92825|Q96KP3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.I504N	ENST00000243052.3	37	c.1511	CCDS8882.1	12	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	T	14.21	2.467938	0.43839	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.69685	-0.42;-0.4;-0.41	4.71	4.71	0.59529	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.470656	0.19159	N	0.121254	T	0.40398	0.1115	N	0.19112	0.55	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.08055	0.003;0.002	T	0.35251	-0.9796	10	0.20519	T	0.43	.	10.7719	0.46327	0.0:0.0:0.0:1.0	.	484;504	Q01064-2;Q01064	.;PDE1B_HUMAN	N	504;463;484	ENSP00000243052:I504N;ENSP00000442559:I463N;ENSP00000448519:I484N	ENSP00000243052:I504N	I	+	2	0	PDE1B	53257279	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	3.336000	0.52113	2.108000	0.64289	0.459000	0.35465	ATC	PDE1B	-	NULL	ENSG00000123360		0.512	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE1B	HGNC	protein_coding	OTTHUMT00000406203.1	35	0.00	0	T			54971012	54971012	+1	no_errors	ENST00000243052	ensembl	human	known	69_37n	missense	89	17.59	19	SNP	1.000	A
PEG3	5178	genome.wustl.edu	37	19	57327932	57327932	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr19:57327932C>T	ENST00000326441.9	-	10	2241	c.1878G>A	c.(1876-1878)atG>atA	p.M626I	ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.M626I|PEG3_ENST00000598410.1_Missense_Mutation_p.M502I|PEG3_ENST00000593695.1_Missense_Mutation_p.M500I|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	626					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TACATTCGTACATTTTCTCTT	0.448																																						dbGAP											0													93.0	89.0	90.0					19																	57327932		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1878G>A	19.37:g.57327932C>T	ENSP00000326581:p.Met626Ile		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.M626I	ENST00000326441.9	37	c.1878	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	3.525	-0.096878	0.07010	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.14391	2.51;2.51	4.02	-5.02	0.02982	Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.383250	0.04807	N	0.434522	T	0.04634	0.0126	N	0.01352	-0.895	.	.	.	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45629	-0.9248	9	0.12766	T	0.61	-2.097	13.4151	0.60963	0.0958:0.2377:0.6664:0.0	.	502;626;561	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	I	626	ENSP00000326581:M626I;ENSP00000403051:M626I	ENSP00000326581:M626I	M	-	3	0	ZIM2	62019744	0.000000	0.05858	0.000000	0.03702	0.722000	0.41435	-2.750000	0.00793	-0.640000	0.05495	-0.219000	0.12488	ATG	PEG3	-	NULL	ENSG00000198300		0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	77	0.00	0	C			57327932	57327932	-1	no_errors	ENST00000326441	ensembl	human	known	69_37n	missense	95	37.91	58	SNP	0.000	T
PLXNB3	5365	genome.wustl.edu	37	X	153032741	153032741	+	Silent	SNP	C	C	T			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chrX:153032741C>T	ENST00000361971.5	+	3	573	c.459C>T	c.(457-459)taC>taT	p.Y153Y	U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538966.1_Silent_p.Y176Y|U52111.14_ENST00000434284.1_RNA	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	153	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGTGCTGTACCAGGCTGAGG	0.706																																						dbGAP											0													34.0	30.0	31.0					X																	153032741		2193	4297	6490	-	-	-	SO:0001819	synonymous_variant	0			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.459C>T	X.37:g.153032741C>T			B7Z3E6|F5H773|Q9HDA4	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.Y176	ENST00000361971.5	37	c.528	CCDS14729.1	X																																																																																			PLXNB3	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000198753		0.706	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	29	0.00	0	C			153032741	153032741	+1	no_errors	ENST00000538966	ensembl	human	known	69_37n	silent	29	34.09	15	SNP	0.624	T
PRAMEF4	400735	genome.wustl.edu	37	1	12942944	12942944	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr1:12942944A>T	ENST00000235349.5	-	2	342	c.272T>A	c.(271-273)cTt>cAt	p.L91H		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	91					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTAGGTTAAGCAGTGCATC	0.622																																						dbGAP											0													60.0	60.0	60.0					1																	12942944		2191	4284	6475	-	-	-	SO:0001583	missense	0				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.272T>A	1.37:g.12942944A>T	ENSP00000235349:p.Leu91His		Q5LJB5	Missense_Mutation	SNP	NULL	p.L91H	ENST00000235349.5	37	c.272	CCDS30592.1	1	.	.	.	.	.	.	.	.	.	.	a	11.46	1.644806	0.29246	.	.	ENSG00000243073	ENST00000235349	T	0.08102	3.13	1.48	1.48	0.22813	.	0.378221	0.23234	N	0.050437	T	0.27454	0.0674	M	0.91196	3.185	0.09310	N	1	D	0.71674	0.998	D	0.65684	0.937	T	0.03840	-1.0999	10	0.87932	D	0	.	5.1316	0.14913	1.0:0.0:0.0:0.0	.	91	O60810	PRAM4_HUMAN	H	91	ENSP00000235349:L91H	ENSP00000235349:L91H	L	-	2	0	PRAMEF4	12865531	0.002000	0.14202	0.020000	0.16555	0.005000	0.04900	0.467000	0.22035	0.939000	0.37446	0.329000	0.21502	CTT	PRAMEF4	-	NULL	ENSG00000243073		0.622	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	80	0.00	0	A	NM_001009611		12942944	12942944	-1	no_errors	ENST00000235349	ensembl	human	known	69_37n	missense	123	38.50	77	SNP	0.024	T
PRPF19	27339	genome.wustl.edu	37	11	60668993	60668993	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr11:60668993A>C	ENST00000227524.4	-	7	750	c.545T>G	c.(544-546)gTg>gGg	p.V182G		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						CGTGGTTAGCACAGTGGCTTT	0.517																																						dbGAP											0													97.0	92.0	94.0					11																	60668993		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.545T>G	11.37:g.60668993A>C	ENSP00000227524:p.Val182Gly			Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V182G	ENST00000227524.4	37	c.545	CCDS7995.1	11	.	.	.	.	.	.	.	.	.	.	A	15.70	2.910283	0.52439	.	.	ENSG00000110107	ENST00000227524;ENST00000540473;ENST00000541371;ENST00000546152	T	0.61510	0.1	5.91	5.91	0.95273	.	0.057031	0.64402	D	0.000001	T	0.60379	0.2264	M	0.76574	2.34	0.80722	D	1	B	0.18013	0.025	B	0.23275	0.045	T	0.56980	-0.7889	10	0.33940	T	0.23	-19.6551	16.0218	0.80503	1.0:0.0:0.0:0.0	.	182	Q9UMS4	PRP19_HUMAN	G	182;11;182;97	ENSP00000227524:V182G	ENSP00000227524:V182G	V	-	2	0	PRPF19	60425569	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.936000	0.92931	2.254000	0.74563	0.533000	0.62120	GTG	PRPF19	-	NULL	ENSG00000110107		0.517	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF19	HGNC	protein_coding	OTTHUMT00000396334.1	66	0.00	0	A	NM_014502		60668993	60668993	-1	no_errors	ENST00000227524	ensembl	human	known	69_37n	missense	106	27.40	40	SNP	1.000	C
PTGS1	5742	genome.wustl.edu	37	9	125154645	125154645	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr9:125154645C>T	ENST00000362012.2	+	11	1627	c.1622C>T	c.(1621-1623)cCg>cTg	p.P541L	PTGS1_ENST00000373698.5_Missense_Mutation_p.P432L|PTGS1_ENST00000540753.1_Missense_Mutation_p.P479L|PTGS1_ENST00000223423.4_Missense_Mutation_p.P504L	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	541					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.P541L(1)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATCTGTTCTCCGGAGTACTGG	0.517																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											108.0	110.0	110.0					9																	125154645		2203	4300	6503	-	-	-	SO:0001583	missense	0			M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1622C>T	9.37:g.125154645C>T	ENSP00000354612:p.Pro541Leu		A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.P541L	ENST00000362012.2	37	c.1622	CCDS6842.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.303898	0.95601	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.55055	-0.8200	10	0.87932	D	0	-10.2139	18.2032	0.89846	0.0:1.0:0.0:0.0	.	479;541;504	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	L	479;541;504;432	ENSP00000437709:P479L;ENSP00000354612:P541L;ENSP00000223423:P504L;ENSP00000362802:P432L	ENSP00000223423:P504L	P	+	2	0	PTGS1	124194466	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	7.814000	0.86154	2.539000	0.85634	0.655000	0.94253	CCG	PTGS1	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000095303		0.517	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS1	HGNC	protein_coding	OTTHUMT00000053933.1	37	0.00	0	C			125154645	125154645	+1	no_errors	ENST00000362012	ensembl	human	known	69_37n	missense	72	14.29	12	SNP	1.000	T
RASGRF2	5924	genome.wustl.edu	37	5	80381624	80381624	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr5:80381624C>T	ENST00000265080.4	+	8	1232	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	389	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CATCTAGATCCCCAGATATAT	0.498																																						dbGAP											0													116.0	113.0	114.0					5																	80381624		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1165C>T	5.37:g.80381624C>T	ENSP00000265080:p.Pro389Ser		B9EG89|Q9UK56	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.P389S	ENST00000265080.4	37	c.1165	CCDS4052.1	5	.	.	.	.	.	.	.	.	.	.	C	31	5.104895	0.94245	.	.	ENSG00000113319	ENST00000265080	T	0.68331	-0.32	5.76	5.76	0.90799	Dbl homology (DH) domain (5);	0.091506	0.85682	D	0.000000	D	0.83390	0.5244	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.83712	0.0188	10	0.66056	D	0.02	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	389;389	D6RAS9;O14827	.;RGRF2_HUMAN	S	389	ENSP00000265080:P389S	ENSP00000265080:P389S	P	+	1	0	RASGRF2	80417380	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.776000	0.85560	2.880000	0.98712	0.650000	0.86243	CCC	RASGRF2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000113319		0.498	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	HGNC	protein_coding	OTTHUMT00000239215.2	67	0.00	0	C	NM_006909		80381624	80381624	+1	no_errors	ENST00000265080	ensembl	human	known	69_37n	missense	62	43.12	47	SNP	1.000	T
RNF212	285498	genome.wustl.edu	37	4	1107207	1107207	+	Silent	SNP	T	T	G			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr4:1107207T>G	ENST00000433731.2	-	1	107	c.46A>C	c.(46-48)Agg>Cgg	p.R16R	RNF212_ENST00000505730.1_5'UTR|RNF212_ENST00000333673.5_Silent_p.R16R|RNF212_ENST00000382968.5_Silent_p.R16R|TMED11P_ENST00000502630.1_RNA|RP11-20I20.2_ENST00000504969.1_RNA			Q495C1	RN212_HUMAN	ring finger protein 212	16					chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CACGACGTCCTGTGGGGCGGC	0.687																																						dbGAP											0													48.0	39.0	42.0					4																	1107207		2194	4297	6491	-	-	-	SO:0001819	synonymous_variant	0			AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"""RING-type (C3HC4) zinc fingers"""	27729	protein-coding gene	gene with protein product		612041	"""hypothetical protein LOC285498"""	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.46A>C	4.37:g.1107207T>G			C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Silent	SNP	pfscan_Znf_RING	p.R16	ENST00000433731.2	37	c.46	CCDS46996.1	4																																																																																			RNF212	-	pfscan_Znf_RING	ENSG00000178222		0.687	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF212	HGNC	protein_coding	OTTHUMT00000359124.2	13	0.00	0	T	NM_194439		1107207	1107207	-1	no_errors	ENST00000433731	ensembl	human	known	69_37n	silent	16	48.39	15	SNP	0.000	G
SLC2A4	6517	genome.wustl.edu	37	17	7187613	7187613	+	Silent	SNP	C	C	T			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr17:7187613C>T	ENST00000317370.8	+	6	910	c.642C>T	c.(640-642)ctC>ctT	p.L214L	RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000571308.1_Silent_p.L214L|SLC2A4_ENST00000424875.2_Silent_p.L204L	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	214					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						TACCTGCCCTCCTGCAGCTGG	0.627																																						dbGAP											0													55.0	56.0	56.0					17																	7187613		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"""Solute carriers"""	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.642C>T	17.37:g.7187613C>T			Q05BQ3|Q14CX2	Missense_Mutation	SNP	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,prints_Glc_transpt_4,pfscan_MFS_dom	p.P176S	ENST00000317370.8	37	c.526	CCDS11097.1	17																																																																																			SLC2A4	-	pfscan_MFS_dom	ENSG00000181856		0.627	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A4	HGNC	protein_coding	OTTHUMT00000220031.3	27	0.00	0	C			7187613	7187613	+1	no_errors	ENST00000570783	ensembl	human	known	69_37n	missense	31	34.04	16	SNP	0.986	T
TG	7038	genome.wustl.edu	37	8	133984055	133984055	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr8:133984055C>T	ENST00000220616.4	+	33	6032	c.5992C>T	c.(5992-5994)Cga>Tga	p.R1998*	TG_ENST00000542445.1_Nonsense_Mutation_p.R368*|TG_ENST00000377869.1_Nonsense_Mutation_p.R1941*|TG_ENST00000519543.1_Nonsense_Mutation_p.R152*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1998					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGAATGTGAACGACGGTGCGA	0.493																																						dbGAP											0													121.0	108.0	112.0					8																	133984055		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5992C>T	8.37:g.133984055C>T	ENSP00000220616:p.Arg1998*		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Nonsense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.R1998*	ENST00000220616.4	37	c.5992	CCDS34944.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.451005|12.451005	0.99669|0.99669	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178	.|.	.|.	.|.	5.55|5.55	4.64|4.64	0.57946|0.57946	.|.	0.000000|.	0.53938|.	D|.	0.000056|.	.|T	.|0.56366	.|0.1980	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65747	.|-0.6093	.|3	0.02654|.	T|.	1|.	.|.	11.3909|11.3909	0.49813|0.49813	0.181:0.819:0.0:0.0|0.181:0.819:0.0:0.0	.|.	.|.	.|.	.|.	X|M	1941;804;1998;368;152|453	.|.	ENSP00000220616:R1998X|.	R|T	+|+	1|2	2|0	TG|TG	134053237|134053237	0.259000|0.259000	0.24043|0.24043	0.103000|0.103000	0.21229|0.21229	0.222000|0.222000	0.24845|0.24845	1.670000|1.670000	0.37502|0.37502	1.272000|1.272000	0.44329|0.44329	0.655000|0.655000	0.94253|0.94253	CGA|ACG	TG	-	pirsf_Thyroglobulin	ENSG00000042832		0.493	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	71	0.00	0	C	NM_003235		133984055	133984055	+1	no_errors	ENST00000220616	ensembl	human	known	69_37n	nonsense	207	21.21	56	SNP	0.182	T
TMED2	10959	genome.wustl.edu	37	12	124081212	124081212	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr12:124081212T>A	ENST00000262225.3	+	4	648	c.542T>A	c.(541-543)gTt>gAt	p.V181D	TMED2_ENST00000509052.2_Missense_Mutation_p.V96D	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	181	Interaction with F2RL1.				cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPII vesicle coating (GO:0048208)|embryonic morphogenesis (GO:0048598)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|maternal placenta development (GO:0001893)|negative regulation of GTPase activity (GO:0034260)|protein targeting to plasma membrane (GO:0072661)	COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|zymogen granule membrane (GO:0042589)				kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		CTTGTTCTAGTTGCCATGACA	0.398																																						dbGAP											0													169.0	165.0	166.0					12																	124081212		2203	4300	6503	-	-	-	SO:0001583	missense	0			X92098	CCDS9250.1	12q24.31	2006-03-27			ENSG00000086598	ENSG00000086598			16996	protein-coding gene	gene with protein product						8663407	Standard	NM_006815		Approved	RNP24, P24A	uc001ufg.3	Q15363	OTTHUMG00000168694	ENST00000262225.3:c.542T>A	12.37:g.124081212T>A	ENSP00000262225:p.Val181Asp			Missense_Mutation	SNP	pfam_GOLD,superfamily_GOLD,pfscan_GOLD	p.V181D	ENST00000262225.3	37	c.542	CCDS9250.1	12	.	.	.	.	.	.	.	.	.	.	T	25.3	4.624367	0.87560	.	.	ENSG00000086598	ENST00000262225;ENST00000432022;ENST00000541504;ENST00000509052	T;T	0.22945	1.93;1.93	5.72	5.72	0.89469	GOLD (1);	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	H	0.95780	3.72	0.80722	D	1	D	0.54397	0.966	D	0.63192	0.912	T	0.74948	-0.3490	10	0.87932	D	0	-8.1622	16.3035	0.82836	0.0:0.0:0.0:1.0	.	181	Q15363	TMED2_HUMAN	D	181;149;131;96	ENSP00000262225:V181D;ENSP00000441161:V96D	ENSP00000262225:V181D	V	+	2	0	TMED2	122647165	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.912000	0.87465	2.299000	0.77371	0.528000	0.53228	GTT	TMED2	-	pfam_GOLD	ENSG00000086598		0.398	TMED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED2	HGNC	protein_coding	OTTHUMT00000400606.1	89	0.00	0	T	NM_006815		124081212	124081212	+1	no_errors	ENST00000262225	ensembl	human	known	69_37n	missense	109	39.44	71	SNP	1.000	A
ZGPAT	84619	genome.wustl.edu	37	20	62366833	62366833	+	Silent	SNP	G	G	T			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr20:62366833G>T	ENST00000328969.5	+	6	1501	c.1374G>T	c.(1372-1374)cgG>cgT	p.R458R	ZGPAT_ENST00000357119.4_Silent_p.R429R|ZGPAT_ENST00000369967.3_Silent_p.R438R|LIME1_ENST00000309546.3_5'Flank|ZGPAT_ENST00000448100.2_Silent_p.R438R|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.G344V|ZGPAT_ENST00000355969.6_Silent_p.R438R|RP4-583P15.14_ENST00000467211.1_5'Flank	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	458					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TGAGCCTGCGGCTCTTCCAGA	0.677																																						dbGAP											0													22.0	26.0	25.0					20																	62366833		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.1374G>T	20.37:g.62366833G>T			E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Silent	SNP	pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom	p.R458	ENST00000328969.5	37	c.1374	CCDS13534.1	20																																																																																			ZGPAT	-	NULL	ENSG00000197114		0.677	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	ZGPAT	HGNC	protein_coding	OTTHUMT00000080214.1	17	0.00	0	G	NM_181484		62366833	62366833	+1	no_errors	ENST00000328969	ensembl	human	known	69_37n	silent	22	40.54	15	SNP	0.944	T
ZNF462	58499	genome.wustl.edu	37	9	109771899	109771899	+	Silent	SNP	G	G	A			TCGA-BH-A1F5-01A-12D-A13L-09	TCGA-BH-A1F5-11A-43D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	82121518-98d6-4db6-8be4-74bbe232a9ed	7165c7b4-d552-496f-a2cd-5afe7c99bbea	g.chr9:109771899G>A	ENST00000277225.5	+	12	7552	c.7263G>A	c.(7261-7263)cgG>cgA	p.R2421R	ZNF462_ENST00000441147.2_Silent_p.R1327R|ZNF462_ENST00000457913.1_Silent_p.R2481R|ZNF462_ENST00000542028.1_Silent_p.R378R|RP11-508N12.2_ENST00000439901.1_RNA			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2421					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTTGTGGACGGGCGTTTTCAC	0.493																																						dbGAP											0													114.0	108.0	110.0					9																	109771899		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.7263G>A	9.37:g.109771899G>A			Q5T0T4|Q8N408	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R2481	ENST00000277225.5	37	c.7443	CCDS35096.1	9																																																																																			ZNF462	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000148143		0.493	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	89	0.00	0	G	NM_021224		109771899	109771899	+1	no_errors	ENST00000457913	ensembl	human	known	69_37n	silent	96	49.74	95	SNP	1.000	A
