#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_AAChange	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_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_Transcript_Id	i_Trna_alt1	i_Trna_alt2	i_Trna_ref	i_Trna_tot	i_Trna_var	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	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_dbSNPPopFreq	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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
PLEKHG5	57449	hgsc.bcm.edu;broad.mit.edu	37	1	6530886	6530886	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:6530886G>T	ENST00000400915.3	-	15	1685	c.1619C>A	c.(1618-1620)cCc>cAc	p.P540H	PLEKHG5_ENST00000377740.3_Missense_Mutation_p.P561H|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.P521H|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.P561H|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.P484H|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.P484H|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.P484H|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.P484H|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.P484H|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.P553H|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.P484H|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.P563H	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	540	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCGCTGGTGGGGTTTGGCCAG	0.692																																					p.P563H		.											.	PLEKHG5-652	0			c.C1688A						.						18.0	15.0	16.0					1																	6530886		2200	4291	6491	SO:0001583	missense	57449	exon15			TGGTGGGGTTTGG	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.1619C>A	1.37:g.6530886G>T	ENSP00000383706:p.Pro540His	74	0		78	5	NM_001265592	0	0	0	0	0	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	ENST00000400915.3	37	CCDS41241.1	.	.	.	.	.	.	.	.	.	.	g	23.0	4.359132	0.82353	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	D;D;D;D;D;D;D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	4.55	4.55	0.56014	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.96830	0.8965	H	0.96239	3.79	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.98298	1.0517	10	0.87932	D	0	-29.7413	15.8724	0.79132	0.0:0.0:1.0:0.0	.	553;484;561;561;540	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	H	561;484;484;540;561;521;484;484;553;484;390;563;484	ENSP00000366977:P561H;ENSP00000344570:P484H;ENSP00000383704:P484H;ENSP00000383706:P540H;ENSP00000366969:P561H;ENSP00000366961:P521H;ENSP00000366957:P484H;ENSP00000366954:P484H;ENSP00000441445:P553H;ENSP00000366966:P484H;ENSP00000439625:P563H;ENSP00000437710:P484H	ENSP00000344570:P484H	P	-	2	0	PLEKHG5	6453473	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.847000	0.92166	2.069000	0.61940	0.457000	0.33378	CCC	.		0.692	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631	
RERE	473	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	8557547	8557547	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:8557547C>A	ENST00000337907.3	-	10	1556	c.922G>T	c.(922-924)Gat>Tat	p.D308Y	RERE_ENST00000400908.2_Missense_Mutation_p.D308Y|RERE_ENST00000400907.2_Missense_Mutation_p.D308Y|RERE_ENST00000377464.1_Missense_Mutation_p.D40Y	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	308	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTCACTGTATCACCATCTGGA	0.448																																					p.D308Y		.											.	RERE-515	0			c.G922T						.						185.0	158.0	167.0					1																	8557547		2203	4300	6503	SO:0001583	missense	473	exon10			CTGTATCACCATC	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.922G>T	1.37:g.8557547C>A	ENSP00000338629:p.Asp308Tyr	258	1		177	73	NM_012102	0	0	2	3	1	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502477	0.64298	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400907;ENST00000400908	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.84	5.84	0.93424	ELM2 domain (2);	.	.	.	.	T	0.42877	0.1222	L	0.27053	0.805	0.54753	D	0.999981	P;P	0.50369	0.934;0.934	P;P	0.53593	0.73;0.454	T	0.29119	-1.0022	9	0.66056	D	0.02	-19.9575	18.6984	0.91611	0.0:1.0:0.0:0.0	.	40;308	B1AKN3;Q9P2R6	.;RERE_HUMAN	Y	308;40;308;308	ENSP00000338629:D308Y;ENSP00000366684:D40Y;ENSP00000383699:D308Y;ENSP00000383700:D308Y	ENSP00000338629:D308Y	D	-	1	0	RERE	8480134	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	5.863000	0.69568	2.765000	0.95021	0.655000	0.94253	GAT	.		0.448	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1		
ANGPTL7	10218	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	11249964	11249964	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:11249964G>T	ENST00000376819.3	+	1	567	c.328G>T	c.(328-330)Gac>Tac	p.D110Y	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	110					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		CAACCAAATTGACATCATGCA	0.577																																					p.D110Y		.											.	ANGPTL7-90	0			c.G328T						.						87.0	80.0	83.0					1																	11249964		2203	4300	6503	SO:0001583	missense	10218	exon1			CAAATTGACATCA	Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"""Fibrinogen C domain containing"""	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.328G>T	1.37:g.11249964G>T	ENSP00000366015:p.Asp110Tyr	114	0		96	36	NM_021146	0	0	0	0	0	B2R9B2|F1T0A6|Q4ZGK4	Missense_Mutation	SNP	ENST00000376819.3	37	CCDS128.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705524	0.68615	.	.	ENSG00000171819	ENST00000376819	T	0.56275	0.47	5.21	5.21	0.72293	.	0.114107	0.64402	D	0.000020	T	0.51822	0.1697	N	0.24115	0.695	0.80722	D	1	P	0.44195	0.828	P	0.48901	0.594	T	0.56335	-0.7996	10	0.62326	D	0.03	.	19.1543	0.93504	0.0:0.0:1.0:0.0	.	110	O43827	ANGL7_HUMAN	Y	110	ENSP00000366015:D110Y	ENSP00000366015:D110Y	D	+	1	0	ANGPTL7	11172551	1.000000	0.71417	0.946000	0.38457	0.925000	0.55904	9.378000	0.97191	2.593000	0.87608	0.655000	0.94253	GAC	.		0.577	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	NM_021146	
KAZN	23254	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	15390118	15390118	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:15390118G>T	ENST00000376030.2	+	7	1392	c.1098G>T	c.(1096-1098)caG>caT	p.Q366H	KAZN_ENST00000400797.3_Splice_Site_p.Q272H|KAZN_ENST00000361144.5_Splice_Site_p.Q360H|KAZN_ENST00000503743.1_Splice_Site_p.Q366H|KAZN_ENST00000422387.2_Splice_Site_p.Q366H|KAZN_ENST00000400798.2_Splice_Site_p.Q272H	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	366					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CTATTGTACAGGTAGGTGTGC	0.577																																					p.Q366H		.											.	KAZN-91	0			c.G1098T						.						119.0	94.0	102.0					1																	15390118		2203	4300	6503	SO:0001630	splice_region_variant	23254	exon7			TGTACAGGTAGGT	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1098+1G>T	1.37:g.15390118G>T		98	0		87	35	NM_015209	0	0	0	0	0	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	37	CCDS152.2	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353047	0.41700	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387;ENST00000361144;ENST00000400798;ENST00000400797	T	0.18657	2.2	4.46	3.54	0.40534	.	.	.	.	.	T	0.29945	0.0749	L	0.27053	0.805	0.39774	D	0.972204	P;D;D	0.60575	0.914;0.988;0.98	P;D;D	0.72338	0.763;0.977;0.948	T	0.06267	-1.0836	9	0.62326	D	0.03	-23.5473	10.1626	0.42860	0.0945:0.0:0.9055:0.0	.	366;360;366	Q674X7-2;Q674X7-3;Q674X7	.;.;KAZRN_HUMAN	H	366;366;366;360;272;272	ENSP00000365198:Q366H	ENSP00000354727:Q360H	Q	+	3	2	KAZN	15262705	1.000000	0.71417	0.991000	0.47740	0.813000	0.45954	5.826000	0.69293	0.868000	0.35678	0.491000	0.48974	CAG	.		0.577	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999	Missense_Mutation
IFI6	2537	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	27995817	27995817	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:27995817C>A	ENST00000361157.6	-	2	136	c.9G>T	c.(7-9)caG>caT	p.Q3H	IFI6_ENST00000362020.4_Missense_Mutation_p.Q3H|RP11-288L9.4_ENST00000430683.1_RNA|IFI6_ENST00000339145.4_Missense_Mutation_p.Q3H	NM_002038.3|NM_022872.2|NM_022873.2	NP_002029.3|NP_075010.1|NP_075011.1	P09912	IFI6_HUMAN	interferon, alpha-inducible protein 6	3					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitochondrial depolarization (GO:0051902)|release of cytochrome c from mitochondria (GO:0001836)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				lung(1)|ovary(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATACCGCCTTCTGCCGCATGG	0.607											OREG0013292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q3H		.											.	IFI6-91	0			c.G9T						.						83.0	65.0	71.0					1																	27995817		2140	4181	6321	SO:0001583	missense	2537	exon2			CGCCTTCTGCCGC	BC015603	CCDS306.1, CCDS307.1, CCDS308.1	1p35	2008-02-05	2006-04-21	2006-04-21	ENSG00000126709	ENSG00000126709			4054	protein-coding gene	gene with protein product		147572	"""interferon, alpha-inducible protein (clone IFI-6-16)"""	G1P3			Standard	NM_002038		Approved	IFI616, FAM14C, 6-16, IFI-6-16	uc001bon.1	P09912	OTTHUMG00000003518	ENST00000361157.6:c.9G>T	1.37:g.27995817C>A	ENSP00000354736:p.Gln3His	70	0	798	96	13	NM_002038	0	0	204	260	56	Q13141|Q13142|Q5VVR2|Q5VVR3|Q6IE95|Q969M8	Missense_Mutation	SNP	ENST00000361157.6	37	CCDS306.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867633	0.72065	.	.	ENSG00000126709	ENST00000361157;ENST00000339145;ENST00000362020	T;T;T	0.35048	1.42;1.34;1.33	4.48	3.56	0.40772	.	0.168304	0.28072	N	0.016719	T	0.44414	0.1292	L	0.34521	1.04	0.23070	N	0.99835	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.76071	0.97;0.97;0.987	T	0.15521	-1.0434	10	0.87932	D	0	.	8.2379	0.31638	0.0:0.8907:0.0:0.1093	.	3;3;3	Q5VVR2;P09912;P09912-3	.;IFI6_HUMAN;.	H	3	ENSP00000354736:Q3H;ENSP00000342513:Q3H;ENSP00000355152:Q3H	ENSP00000342513:Q3H	Q	-	3	2	IFI6	27868404	0.923000	0.31300	1.000000	0.80357	0.995000	0.86356	0.951000	0.29135	1.221000	0.43506	0.563000	0.77884	CAG	.		0.607	IFI6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009780.1	NM_022873	
OPRD1	4985	hgsc.bcm.edu	37	1	29138975	29138975	+	Missense_Mutation	SNP	G	G	T	rs1042114	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:29138975G>T	ENST00000234961.2	+	1	322	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	27			C -> F (improved maturation and increased expression at the cell surface; dbSNP:rs1042114). {ECO:0000269|PubMed:10982041, ECO:0000269|PubMed:8201839, ECO:0000269|Ref.4}.		adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCTAGCGCCTGCCCCAGCGCT	0.771													T|||	4730	0.944489	0.9796	0.9193	5008	,	,		9147	1.0		0.8678	False		,,,				2504	0.9366				p.C27F		.											.	OPRD1-69	0			c.G80T						.	T	PHE/CYS	3689,115		1788,113,1	4.0	6.0	5.0	http://www.ncbi.nlm.nih.gov/omim/103780,165195|http://omim.org/entry/165195|http://omim.org/entry/103780	80	2.9	1.0	1	dbSNP_86	5	6762,846		2982,798,24	no	missense	OPRD1	NM_000911.3	205	4770,911,25	TT,TG,GG		11.1199,3.0231,8.421	benign	27/373	29138975	10451,961	1902	3804	5706	SO:0001583	missense	4985	exon1			GCGCCTGCCCCAG	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.80G>T	1.37:g.29138975G>T	ENSP00000234961:p.Cys27Phe	0	0		10	10	NM_000911	0	0	0	0	0	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	2035	0.9317765567765568	474	0.9634146341463414	331	0.914364640883978	572	1.0	658	0.8680738786279684	T	0.016	-1.513433	0.00975	0.969769	0.888801	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.67698	-0.28	4.0	2.89	0.33648	.	1.802200	0.02327	N	0.073605	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41342	-0.9514	9	0.09338	T	0.73	.	3.8109	0.08796	0.0:0.1144:0.2238:0.6618	rs1042114;rs59349662;rs1042114	27	P41143	OPRD_HUMAN	F	27	ENSP00000234961:C27F	ENSP00000234961:C27F	C	+	2	0	OPRD1	29011562	0.002000	0.14202	0.992000	0.48379	0.116000	0.19942	0.521000	0.22893	0.713000	0.32060	-0.694000	0.03704	TGC	G|0.061;T|0.939		0.771	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911	
NCDN	23154	broad.mit.edu;bcgsc.ca	37	1	36026523	36026523	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:36026523C>A	ENST00000373243.2	+	3	1154	c.771C>A	c.(769-771)tgC>tgA	p.C257*	NCDN_ENST00000356090.4_Nonsense_Mutation_p.C257*|NCDN_ENST00000373253.3_Nonsense_Mutation_p.C240*	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	257					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCCTGAATGCTACCGGGATC	0.632																																					p.C257X		.											.	NCDN-155	0			c.C771A						.						60.0	57.0	58.0					1																	36026523		2201	4298	6499	SO:0001587	stop_gained	23154	exon3			TGAATGCTACCGG	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.771C>A	1.37:g.36026523C>A	ENSP00000362340:p.Cys257*	56	0		69	5	NM_014284	0	0	12	12	0	D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Nonsense_Mutation	SNP	ENST00000373243.2	37	CCDS392.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941000	0.92526	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243;ENST00000437806	.	.	.	4.76	3.83	0.44106	.	0.165628	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	14.1339	0.65273	0.0:0.8489:0.1511:0.0	.	.	.	.	X	240;257;257;240	.	ENSP00000348394:C257X	C	+	3	2	NCDN	35799110	0.998000	0.40836	1.000000	0.80357	0.788000	0.44548	1.152000	0.31663	1.209000	0.43321	-0.305000	0.09177	TGC	.		0.632	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284	
FOXJ3	22887	broad.mit.edu;bcgsc.ca	37	1	42657323	42657323	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:42657323G>T	ENST00000372572.1	-	11	1313	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P	FOXJ3_ENST00000361346.1_Silent_p.P334P|FOXJ3_ENST00000361776.1_Silent_p.P300P|FOXJ3_ENST00000372573.1_Silent_p.P334P|FOXJ3_ENST00000545068.1_Silent_p.P334P|FOXJ3_ENST00000372571.1_5'Flank	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	334					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGTACTGCTGGGAGAGTGCT	0.488																																					p.P334P		.											.	FOXJ3-228	0			c.C1002A						.						333.0	271.0	292.0					1																	42657323		2203	4300	6503	SO:0001819	synonymous_variant	22887	exon11			ACTGCTGGGAGAG	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.1002C>A	1.37:g.42657323G>T		242	0		202	8	NM_001198851	0	0	5	5	0	A7MBL7|A7MD18|D3DPW2|Q9NSS7	Silent	SNP	ENST00000372572.1	37	CCDS30689.1																																																																																			.		0.488	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947	
CCDC30	728621	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	43055014	43055014	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:43055014G>T	ENST00000340612.4	+	8	1243	c.1243G>T	c.(1243-1245)Gat>Tat	p.D415Y	CCDC30_ENST00000507855.1_Missense_Mutation_p.D204Y|CCDC30_ENST00000428554.2_Missense_Mutation_p.D415Y|CCDC30_ENST00000390640.4_Missense_Mutation_p.D204Y|CCDC30_ENST00000342022.4_Missense_Mutation_p.D415Y			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	415						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TCAGAACGTAGATGAGTTACA	0.368																																					p.D415Y		.											.	CCDC30-90	0			c.G1243T						.						85.0	84.0	84.0					1																	43055014		2203	4300	6503	SO:0001583	missense	728621	exon9			AACGTAGATGAGT	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1243G>T	1.37:g.43055014G>T	ENSP00000340378:p.Asp415Tyr	125	0		86	42	NM_001080850	0	0	6	7	1	Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484822	0.26598	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.08	-0.518	0.11943	.	0.622081	0.17492	N	0.172301	T	0.30541	0.0768	N	0.08118	0	0.09310	N	0.999998	P;P;D	0.61080	0.924;0.867;0.989	P;P;P	0.52066	0.461;0.465;0.689	T	0.15752	-1.0426	10	0.72032	D	0.01	.	4.3171	0.10998	0.3983:0.1987:0.403:0.0	.	415;199;204	Q5VVM6;Q6N081;Q5VVM6-2	CCD30_HUMAN;.;.	Y	415;204;415;415;204	ENSP00000397035:D415Y;ENSP00000426711:D204Y;ENSP00000340378:D415Y;ENSP00000339280:D415Y;ENSP00000375051:D204Y	ENSP00000340378:D415Y	D	+	1	0	CCDC30	42827601	0.355000	0.24921	0.271000	0.24616	0.150000	0.21749	0.401000	0.20948	0.264000	0.21851	-0.339000	0.08088	GAT	.		0.368	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030	
DMAP1	55929	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	44685801	44685801	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:44685801G>T	ENST00000372289.2	+	9	1427	c.1164G>T	c.(1162-1164)ctG>ctT	p.L388L	DMAP1_ENST00000315913.5_Silent_p.L388L|DMAP1_ENST00000361745.6_Silent_p.L388L|DMAP1_ENST00000488433.1_3'UTR	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	388					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					AGTATGAGCTGCAGATGCTGC	0.652											OREG0013438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L388L		.											.	DMAP1-226	0			c.G1164T						.						24.0	24.0	24.0					1																	44685801		2203	4300	6503	SO:0001819	synonymous_variant	55929	exon10			TGAGCTGCAGATG	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.1164G>T	1.37:g.44685801G>T		153	0	925	200	13	NM_001034024	0	0	76	80	4	A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Silent	SNP	ENST00000372289.2	37	CCDS509.1																																																																																			.		0.652	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100	
MAST2	23139	broad.mit.edu	37	1	46493447	46493447	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:46493447G>T	ENST00000361297.2	+	17	2247	c.1964G>T	c.(1963-1965)gGa>gTa	p.G655V	MAST2_ENST00000372009.2_Missense_Mutation_p.G585V	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.G655A(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ACGGACTTTGGACTGTCCAAA	0.443																																					p.G655V		.											.	MAST2-581	1	Substitution - Missense(1)	breast(1)	c.G1964T						.						115.0	111.0	112.0					1																	46493447		1910	4149	6059	SO:0001583	missense	23139	exon17			ACTTTGGACTGTC	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1964G>T	1.37:g.46493447G>T	ENSP00000354671:p.Gly655Val	157	1		155	4	NM_015112	0	0	0	0	0		Missense_Mutation	SNP	ENST00000361297.2	37	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907067	0.92107	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.80123	-1.34;-1.34;-1.34	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93458	0.7913	H	0.96239	3.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;0.999	D	0.95038	0.8175	10	0.87932	D	0	-15.1567	19.5867	0.95492	0.0:0.0:1.0:0.0	.	585;329;585;655	Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	V	655;585;329;540	ENSP00000354671:G655V;ENSP00000361079:G585V;ENSP00000361078:G540V	ENSP00000354671:G655V	G	+	2	0	MAST2	46266034	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.869000	0.99810	2.712000	0.92718	0.561000	0.74099	GGA	.		0.443	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112	
NSUN4	387338	bcgsc.ca	37	1	46810498	46810498	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:46810498C>A	ENST00000474844.1	+	2	769	c.119C>A	c.(118-120)gCt>gAt	p.A40D	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000537428.1_5'UTR|NSUN4_ENST00000536062.1_5'UTR	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	40					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					AAATTCCCTGCTGTTCGACTG	0.493																																					p.A40D		.											.	NSUN4-90	0			c.C119A						.						140.0	142.0	142.0					1																	46810498		2203	4300	6503	SO:0001583	missense	387338	exon2			TCCCTGCTGTTCG	AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.119C>A	1.37:g.46810498C>A	ENSP00000419740:p.Ala40Asp	133	3		125	52	NM_199044	0	0	6	6	0	A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	ENST00000474844.1	37	CCDS534.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329116	0.81690	.	.	ENSG00000117481	ENST00000474844	T	0.15017	2.46	5.45	5.45	0.79879	.	0.295743	0.38217	N	0.001774	T	0.21103	0.0508	M	0.64997	1.995	0.80722	D	1	P	0.39216	0.664	B	0.36885	0.235	T	0.01757	-1.1280	10	0.72032	D	0.01	-7.3945	14.5021	0.67729	0.0:0.8532:0.1468:0.0	.	40	Q96CB9	NSUN4_HUMAN	D	40	ENSP00000419740:A40D	ENSP00000419740:A40D	A	+	2	0	NSUN4	46583085	0.986000	0.35501	0.973000	0.42090	0.968000	0.65278	3.418000	0.52721	2.573000	0.86826	0.563000	0.77884	GCT	.		0.493	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	NM_199044	
ELAVL4	1996	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	50659584	50659584	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:50659584G>T	ENST00000371823.4	+	4	726	c.502G>T	c.(502-504)Gtc>Ttc	p.V168F	ELAVL4_ENST00000371827.1_Missense_Mutation_p.V168F|ELAVL4_ENST00000371821.1_Missense_Mutation_p.V173F|ELAVL4_ENST00000448907.2_Missense_Mutation_p.V171F|ELAVL4_ENST00000357083.4_Missense_Mutation_p.V185F|ELAVL4_ENST00000371819.1_Missense_Mutation_p.V173F|ELAVL4_ENST00000371824.1_Missense_Mutation_p.V168F	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	168	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GGTTGATCAAGTCACAGGTTA	0.443																																					p.V185F		.											.	ELAVL4-516	0			c.G553T						.						164.0	142.0	149.0					1																	50659584		2203	4300	6503	SO:0001583	missense	1996	exon4			GATCAAGTCACAG	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.502G>T	1.37:g.50659584G>T	ENSP00000360888:p.Val168Phe	181	0		170	68	NM_001144775	0	0	0	0	0	B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	CCDS553.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988649	0.53934	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37	6.11	6.11	0.99139	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	N	0.26130	0.795	0.80722	D	1	P;B;B;P;P;P;P	0.41041	0.62;0.048;0.032;0.736;0.566;0.566;0.62	B;B;B;P;B;B;B	0.46049	0.293;0.117;0.021;0.502;0.194;0.14;0.293	T	0.00400	-1.1763	10	0.62326	D	0.03	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	173;173;168;168;185;168;171	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	F	171;168;185;168;168;173;173	ENSP00000399939:V171F;ENSP00000360892:V168F;ENSP00000349594:V185F;ENSP00000360889:V168F;ENSP00000360888:V168F;ENSP00000360886:V173F;ENSP00000360884:V173F	ENSP00000349594:V185F	V	+	1	0	ELAVL4	50432171	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.817000	0.86213	2.906000	0.99361	0.655000	0.94253	GTC	.		0.443	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952	
ZFYVE9	9372	bcgsc.ca	37	1	52704417	52704417	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:52704417C>A	ENST00000371591.1	+	3	1459	c.1328C>A	c.(1327-1329)gCa>gAa	p.A443E	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.A443E|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.A443E	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	443					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GTTGGATTGGCAGATGCAGGT	0.383																																					p.A443E		.											.	ZFYVE9-230	0			c.C1328A						.						112.0	109.0	110.0					1																	52704417		2203	4299	6502	SO:0001583	missense	9372	exon4			GATTGGCAGATGC	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1328C>A	1.37:g.52704417C>A	ENSP00000360647:p.Ala443Glu	100	3		122	41	NM_007324	0	0	0	0	0	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	C	5.070	0.198552	0.09652	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.54675	1.05;0.56;1.04;1.04	5.59	5.59	0.84812	.	0.432853	0.21039	N	0.081219	T	0.31918	0.0812	N	0.19112	0.55	0.23063	N	0.998353	B;B;P	0.49559	0.302;0.112;0.925	B;B;B	0.40940	0.054;0.024;0.344	T	0.16837	-1.0389	10	0.10636	T	0.68	.	8.3582	0.32342	0.1559:0.761:0.0:0.0831	.	443;443;443	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	E	443	ENSP00000349737:A443E;ENSP00000355358:A443E;ENSP00000287727:A443E;ENSP00000360647:A443E	ENSP00000287727:A443E	A	+	2	0	ZFYVE9	52477005	0.106000	0.21978	1.000000	0.80357	0.107000	0.19398	0.607000	0.24209	2.643000	0.89663	0.655000	0.94253	GCA	.		0.383	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324	
CYP2J2	1573	broad.mit.edu;bcgsc.ca	37	1	60377418	60377418	+	Missense_Mutation	SNP	G	G	T	rs72547600		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:60377418G>T	ENST00000371204.3	-	4	589	c.546C>A	c.(544-546)ttC>ttA	p.F182L	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	182					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	TGTTGATCTTGAAATGAGGGT	0.448																																					p.F182L		.											.	CYP2J2-91	0			c.C546A						.						149.0	142.0	144.0					1																	60377418		2203	4300	6503	SO:0001583	missense	1573	exon4			GATCTTGAAATGA	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.546C>A	1.37:g.60377418G>T	ENSP00000360247:p.Phe182Leu	263	0		208	9	NM_000775	0	0	1	1	0	B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	CCDS613.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409884	0.25465	.	.	ENSG00000134716	ENST00000371204	T	0.68903	-0.36	5.49	-0.377	0.12501	.	0.504996	0.23165	N	0.051199	T	0.48660	0.1512	L	0.35644	1.08	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.28964	-1.0027	10	0.33141	T	0.24	.	6.0198	0.19623	0.2815:0.3733:0.3452:0.0	.	182	P51589	CP2J2_HUMAN	L	182	ENSP00000360247:F182L	ENSP00000360247:F182L	F	-	3	2	CYP2J2	60150006	0.020000	0.18652	0.997000	0.53966	0.985000	0.73830	0.107000	0.15375	0.017000	0.15025	0.655000	0.94253	TTC	.		0.448	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775	
LEPR	3953	hgsc.bcm.edu;broad.mit.edu	37	1	66098847	66098847	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:66098847C>A	ENST00000371060.3	+	20	2871	c.2686C>A	c.(2686-2688)Ctt>Att	p.L896I	LEPR_ENST00000349533.6_Intron|LEPR_ENST00000406510.3_Intron	NM_001003679.3|NM_001198689.1	NP_001003679.1|NP_001185618.1	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AACGGACATTCTTTGAAGTCT	0.303																																					p.L896I		.											.	LEPR-91	0			c.C2686A						.						51.0	50.0	51.0					1																	66098847		2203	4297	6500	SO:0001583	missense	3953	exon20			GACATTCTTTGAA	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000371060.3:c.2686C>A	1.37:g.66098847C>A	ENSP00000360099:p.Leu896Ile	24	0		26	6	NM_001003679	0	0	0	0	0	Q6FHL5	Missense_Mutation	SNP	ENST00000371060.3	37	CCDS30740.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697041	0.68386	.	.	ENSG00000116678	ENST00000371060	T	0.56611	0.45	5.9	5.9	0.94986	.	.	.	.	.	T	0.71204	0.3312	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73962	-0.3817	8	0.87932	D	0	.	18.052	0.89353	0.0:1.0:0.0:0.0	.	896	P48357-2	.	I	896	ENSP00000360099:L896I	ENSP00000360099:L896I	L	+	1	0	LEPR	65871435	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.054000	0.49908	2.788000	0.95919	0.650000	0.86243	CTT	.		0.303	LEPR-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025276.1	NM_002303	
IL23R	149233	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	67724387	67724387	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:67724387C>A	ENST00000347310.5	+	11	1637	c.1466C>A	c.(1465-1467)tCa>tAa	p.S489*	IL23R_ENST00000395227.1_Nonsense_Mutation_p.S234*|IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000473881.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	489					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CCCCAAATTTCAAATTTTCTG	0.398																																					p.S489X		.											.	IL23R-90	0			c.C1466A						.						64.0	66.0	65.0					1																	67724387		2203	4300	6503	SO:0001587	stop_gained	149233	exon11			AAATTTCAAATTT	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1466C>A	1.37:g.67724387C>A	ENSP00000321345:p.Ser489*	168	1		118	25	NM_144701	0	0	0	0	0	C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Nonsense_Mutation	SNP	ENST00000347310.5	37	CCDS637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.85|13.85	2.361604|2.361604	0.41801|0.41801	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000425614|ENST00000347310;ENST00000395227	.|.	.|.	.|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.26231|.	0.0640|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.16808|.	-1.0390|.	4|.	.|0.02654	.|T	.|1	-29.9761|-29.9761	15.3632|15.3632	0.74499|0.74499	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	251|489;234	.|.	.|ENSP00000321345:S489X	Q|S	+|+	1|2	0|0	IL23R|IL23R	67496975|67496975	0.986000|0.986000	0.35501|0.35501	0.915000|0.915000	0.36163|0.36163	0.046000|0.046000	0.14306|0.14306	2.872000|2.872000	0.48467|0.48467	2.695000|2.695000	0.91970|0.91970	0.650000|0.650000	0.86243|0.86243	CAA|TCA	.		0.398	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701	
NEXN	91624	broad.mit.edu	37	1	78401561	78401561	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:78401561C>A	ENST00000334785.7	+	11	1489	c.1305C>A	c.(1303-1305)atC>atA	p.I435I	NEXN_ENST00000480732.2_3'UTR|NEXN_ENST00000330010.8_Silent_p.I371I|NEXN_ENST00000457030.1_Silent_p.I421I	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAGAACTGATCAAATTAAAAA	0.308																																					p.I435I		.											.	NEXN-92	0			c.C1305A						.						47.0	47.0	47.0					1																	78401561		1795	4059	5854	SO:0001819	synonymous_variant	91624	exon11			ACTGATCAAATTA	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1305C>A	1.37:g.78401561C>A		125	2		126	9	NM_144573	0	0	0	0	0		Silent	SNP	ENST00000334785.7	37	CCDS41351.1	.	.	.	.	.	.	.	.	.	.	C	7.428	0.638179	0.14386	.	.	ENSG00000162614	ENST00000342754	.	.	.	5.86	-5.13	0.02884	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.4789	1.8561	0.03179	0.4093:0.2204:0.0759:0.2945	.	.	.	.	X	335	.	.	S	+	2	0	NEXN	78174149	0.002000	0.14202	0.976000	0.42696	0.917000	0.54804	-1.457000	0.02374	-0.508000	0.06540	-0.142000	0.14014	TCA	.		0.308	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573	
LPHN2	23266	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	82409449	82409449	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:82409449C>A	ENST00000370728.1	+	8	1839	c.1194C>A	c.(1192-1194)gcC>gcA	p.A398A	LPHN2_ENST00000370730.1_Silent_p.A398A|LPHN2_ENST00000370715.1_Silent_p.A398A|LPHN2_ENST00000359929.3_Silent_p.A398A|LPHN2_ENST00000370721.1_Silent_p.A402A|LPHN2_ENST00000370727.1_Silent_p.A398A|LPHN2_ENST00000370713.1_Silent_p.A398A|LPHN2_ENST00000271029.4_Silent_p.A398A|LPHN2_ENST00000335786.5_Silent_p.A398A|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Silent_p.A398A|LPHN2_ENST00000370723.1_Silent_p.A398A|LPHN2_ENST00000394879.1_Silent_p.A398A|LPHN2_ENST00000370717.2_Silent_p.A398A|LPHN2_ENST00000370725.1_Silent_p.A398A			O95490	LPHN2_HUMAN	latrophilin 2	398					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTGATCCTGCCCAAGGTAAGC	0.353																																					p.A398A		.											.	LPHN2-525	0			c.C1194A						.						81.0	76.0	77.0					1																	82409449		2201	4298	6499	SO:0001819	synonymous_variant	23266	exon5			TCCTGCCCAAGGT	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1194C>A	1.37:g.82409449C>A		106	1		124	25	NM_012302	0	0	0	0	0	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37		.	.	.	.	.	.	.	.	.	.	C	10.38	1.334915	0.24253	.	.	ENSG00000117114	ENST00000449420	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	T	0.62853	0.2462	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61903	-0.6967	4	.	.	.	.	13.9861	0.64337	0.0:0.9278:0.0:0.0722	.	.	.	.	H	266	.	.	P	+	2	0	LPHN2	82182037	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.642000	0.37207	2.658000	0.90341	0.650000	0.86243	CCC	.		0.353	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	
CTBS	1486	broad.mit.edu	37	1	85039999	85040007	+	In_Frame_Del	DEL	GCAGCGCCA	GCAGCGCCA	-	rs142534762|rs3217269|rs199701060|rs201060055	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:85039999_85040007delGCAGCGCCA	ENST00000370630.5	-	1	140_148	c.92_100delTGGCGCTGC	c.(91-102)ctggcgctgcgg>cgg	p.LAL31del	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	31					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GCCGCGAGCCgcagcgccagcagcgccag	0.718														1537	0.306909	0.5038	0.2954	5008	,	,		11352	0.0556		0.2624	False		,,,				2504	0.3538				p.31_34del		.											.	CTBS-90	0			c.92_100del						.			865,21,1798		349,2,165,3,13,810						-3.6	0.0		dbSNP_134	4	1279,4,4361		415,1,448,1,1,1956	no	codingComplex	CTBS	NM_004388.2		764,3,613,4,14,2766	A1A1,A1A2,A1R,A2A2,A2R,RR		22.7321,33.0104,26.0447				2144,25,6159				SO:0001651	inframe_deletion	1486	exon1			CGAGCCGCAGCGC	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.92_100delTGGCGCTGC	1.37:g.85040008_85040016delGCAGCGCCA	ENSP00000359664:p.Leu31_Leu33del	6	0		66	26	NM_004388	0	0	0	0	0	Q5VX50	In_Frame_Del	DEL	ENST00000370630.5	37	CCDS698.1																																																																																			.		0.718	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388	
WDR63	126820	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	85592293	85592293	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:85592293G>A	ENST00000294664.6	+	20	2392	c.2212G>A	c.(2212-2214)Gga>Aga	p.G738R	WDR63_ENST00000370596.1_Missense_Mutation_p.G699R|WDR63_ENST00000326813.8_Missense_Mutation_p.G699R	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	738										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CCGAGAAGATGGATACATTGA	0.498																																					p.G738R		.											.	WDR63-95	0			c.G2212A						.						72.0	70.0	71.0					1																	85592293		2203	4300	6503	SO:0001583	missense	126820	exon20			GAAGATGGATACA		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.2212G>A	1.37:g.85592293G>A	ENSP00000294664:p.Gly738Arg	89	0		111	7	NM_145172	0	0	4	4	0	A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597622	0.87055	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000484007	T;T;T;T	0.71934	-0.61;-0.61;-0.61;0.88	5.03	5.03	0.67393	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85864	0.5796	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88689	0.3207	10	0.87932	D	0	-28.3945	18.7189	0.91686	0.0:0.0:1.0:0.0	.	699;738	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	R	699;699;738;20	ENSP00000359628:G699R;ENSP00000317463:G699R;ENSP00000294664:G738R;ENSP00000435544:G20R	ENSP00000294664:G738R	G	+	1	0	WDR63	85364881	1.000000	0.71417	0.997000	0.53966	0.905000	0.53344	8.701000	0.91331	2.496000	0.84212	0.557000	0.71058	GGA	.		0.498	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172	
TGFBR3	7049	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	92187701	92187701	+	Splice_Site	SNP	C	C	A	rs140100898	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:92187701C>A	ENST00000525962.1	-	7	947	c.886G>T	c.(886-888)Gct>Tct	p.A296S	TGFBR3_ENST00000212355.4_Splice_Site_p.A296S|TGFBR3_ENST00000370399.2_Splice_Site_p.A296S			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	296					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CTGTTAGGAGCCTGAAGATAT	0.299													C|||	5	0.000998403	0.0038	0.0	5008	,	,		17365	0.0		0.0	False		,,,				2504	0.0				p.A296S		.											.	TGFBR3-93	0			c.G886T						.	C	SER/ALA,SER/ALA,SER/ALA	18,4388	25.3+/-52.1	0,18,2185	76.0	72.0	73.0		886,886,886	4.3	1.0	1	dbSNP_134	73	0,8600		0,0,4300	yes	missense-near-splice,missense-near-splice,missense-near-splice	TGFBR3	NM_001195683.1,NM_001195684.1,NM_003243.4	99,99,99	0,18,6485	AA,AC,CC		0.0,0.4085,0.1384	possibly-damaging,possibly-damaging,possibly-damaging	296/851,296/851,296/852	92187701	18,12988	2203	4300	6503	SO:0001630	splice_region_variant	7049	exon8			TAGGAGCCTGAAG	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.886-1G>T	1.37:g.92187701C>A		40	0		57	8	NM_001195683	0	0	0	0	0	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140559	0.37825	0.004085	0.0	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.22	4.29	0.51040	.	0.099468	0.64402	N	0.000002	T	0.17831	0.0428	L	0.49350	1.555	0.48762	D	0.999706	B;B;B	0.26672	0.094;0.076;0.156	B;B;B	0.25884	0.064;0.043;0.064	T	0.08166	-1.0735	10	0.66056	D	0.02	-12.4334	9.328	0.38005	0.1457:0.7733:0.0:0.081	.	296;296;296	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	S	296	ENSP00000212355:A296S;ENSP00000359426:A296S;ENSP00000436127:A296S;ENSP00000432638:A296S	ENSP00000212355:A296S	A	-	1	0	TGFBR3	91960289	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.758000	0.38410	1.322000	0.45245	0.462000	0.41574	GCT	C|0.999;A|0.001		0.299	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243	Missense_Mutation
SLC44A3	126969	broad.mit.edu;bcgsc.ca	37	1	95310885	95310885	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:95310885G>T	ENST00000271227.6	+	9	1039	c.937G>T	c.(937-939)Gtt>Ttt	p.V313F	SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000527077.1_Missense_Mutation_p.V245F|SLC44A3_ENST00000467909.1_Missense_Mutation_p.V265F|SLC44A3_ENST00000446120.2_Missense_Mutation_p.V277F|SLC44A3_ENST00000532427.1_Missense_Mutation_p.V233F|SLC44A3_ENST00000529450.1_Missense_Mutation_p.V281F|RP11-465K1.2_ENST00000422162.1_RNA	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	313					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	AAAATTGACAGTTGAGCTTTT	0.423																																					p.V313F		.											.	SLC44A3-91	0			c.G937T						.						109.0	114.0	112.0					1																	95310885		2203	4300	6503	SO:0001583	missense	126969	exon9			TTGACAGTTGAGC	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.937G>T	1.37:g.95310885G>T	ENSP00000271227:p.Val313Phe	61	2		55	29	NM_001114106	0	0	1	4	3	B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116291	0.37339	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427	T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85	5.68	0.647	0.17796	.	0.511725	0.17701	N	0.164940	T	0.28532	0.0706	M	0.77486	2.375	0.09310	N	0.999999	P;P;P;P;P	0.52577	0.901;0.908;0.901;0.901;0.954	P;P;P;P;P	0.59056	0.776;0.851;0.813;0.776;0.828	T	0.08617	-1.0713	10	0.87932	D	0	-3.9266	9.5755	0.39454	0.5015:0.0:0.4985:0.0	.	233;277;245;281;313	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	F	277;313;245;281;265;233	ENSP00000389143:V277F;ENSP00000271227:V313F;ENSP00000433641:V245F;ENSP00000431836:V281F;ENSP00000432789:V265F;ENSP00000436661:V233F	ENSP00000271227:V313F	V	+	1	0	SLC44A3	95083473	0.437000	0.25593	0.001000	0.08648	0.340000	0.28889	0.763000	0.26517	0.073000	0.16731	-0.145000	0.13849	GTT	.		0.423	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369	
AHCYL1	10768	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	110561730	110561730	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:110561730G>T	ENST00000369799.5	+	14	1742	c.1375G>T	c.(1375-1377)Gcc>Tcc	p.A459S	AHCYL1_ENST00000393614.4_Missense_Mutation_p.A412S|AHCYL1_ENST00000359172.3_Missense_Mutation_p.A412S	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	459					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		GTCCATCACAGCCACAACACA	0.498																																					p.A459S		.											.	AHCYL1-91	0			c.G1375T						.						116.0	102.0	107.0					1																	110561730		2203	4300	6503	SO:0001583	missense	10768	exon14			ATCACAGCCACAA	U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.1375G>T	1.37:g.110561730G>T	ENSP00000358814:p.Ala459Ser	57	0		57	18	NM_006621	0	0	0	0	0	B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	CCDS818.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671279	0.67814	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.76709	-1.04;-1.04;-1.04	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	L	0.31664	0.95	0.80722	D	1	B	0.19200	0.034	B	0.36719	0.231	T	0.65199	-0.6226	10	0.49607	T	0.09	-21.4927	20.3931	0.98965	0.0:0.0:1.0:0.0	.	459	O43865	SAHH2_HUMAN	S	459;412;412	ENSP00000358814:A459S;ENSP00000352092:A412S;ENSP00000377238:A412S	ENSP00000352092:A412S	A	+	1	0	AHCYL1	110363253	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GCC	.		0.498	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1		
CHIA	27159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	111862838	111862838	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:111862838G>T	ENST00000369740.1	+	12	1284	c.1181G>T	c.(1180-1182)tGc>tTc	p.C394F	RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000451398.2_Missense_Mutation_p.C233F|CHIA_ENST00000483391.1_Missense_Mutation_p.C233F|CHIA_ENST00000430615.1_Missense_Mutation_p.C286F|CHIA_ENST00000343320.6_Missense_Mutation_p.C394F|CHIA_ENST00000353665.6_Missense_Mutation_p.C233F	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	394					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GTTTCAGGTTGCACGGCTCCA	0.582																																					p.C394F		.											.	CHIA-91	0			c.G1181T						.						66.0	67.0	66.0					1																	111862838		2203	4300	6503	SO:0001583	missense	27159	exon12			CAGGTTGCACGGC	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.1181G>T	1.37:g.111862838G>T	ENSP00000358755:p.Cys394Phe	103	0		80	9	NM_201653	0	0	0	0	0	Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	G	9.801	1.180530	0.21787	.	.	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000489524;ENST00000430615	T;T;T;T;T;T;T;T	0.05258	4.18;3.84;3.47;3.47;3.84;3.84;3.69;4.03	5.07	5.07	0.68467	.	0.082267	0.47852	U	0.000201	T	0.03305	0.0096	L	0.39147	1.195	0.43421	D	0.995578	B	0.25667	0.131	B	0.25759	0.063	T	0.42258	-0.9462	10	0.32370	T	0.25	-23.9167	15.9825	0.80121	0.0:0.0:1.0:0.0	.	394	Q9BZP6	CHIA_HUMAN	F	338;233;394;394;233;233;233;286	ENSP00000387671:C338F;ENSP00000436946:C233F;ENSP00000358755:C394F;ENSP00000341828:C394F;ENSP00000390476:C233F;ENSP00000338970:C233F;ENSP00000433309:C233F;ENSP00000391132:C286F	ENSP00000341828:C394F	C	+	2	0	CHIA	111664361	1.000000	0.71417	0.990000	0.47175	0.124000	0.20399	4.454000	0.60068	2.628000	0.89032	0.655000	0.94253	TGC	.		0.582	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1		
KCND3	3752	broad.mit.edu	37	1	112525124	112525126	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:112525124_112525126delGAA	ENST00000315987.2	-	2	702_704	c.223_225delTTC	c.(223-225)ttcdel	p.F75del	KCND3_ENST00000369697.1_In_Frame_Del_p.F75del|KCND3_ENST00000302127.4_In_Frame_Del_p.F75del	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	75					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TGTCCTCGTTGAAGAAGAACTCC	0.621																																					p.75_75del		.											.	KCND3-155	0			c.223_225del						.																																			SO:0001651	inframe_deletion	3752	exon2			CTCGTTGAAGAAG	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.223_225delTTC	1.37:g.112525130_112525132delGAA	ENSP00000319591:p.Phe75del	196	0		199	7	NM_004980	0	0	0	0	0	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	In_Frame_Del	DEL	ENST00000315987.2	37	CCDS843.1																																																																																			.		0.621	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198	
MAGI3	260425	broad.mit.edu;ucsc.edu	37	1	114225611	114225611	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:114225611G>T	ENST00000307546.9	+	21	3496	c.3421G>T	c.(3421-3423)Gaa>Taa	p.E1141*	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1166					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCATATTTGAAGAGTCTCA	0.353																																					p.E1141X		.											.	MAGI3-524	0			c.G3421T						.						66.0	62.0	64.0					1																	114225611		1568	3582	5150	SO:0001587	stop_gained	260425	exon21			ATATTTGAAGAGT	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3421G>T	1.37:g.114225611G>T	ENSP00000304604:p.Glu1141*	120	2		109	19	NM_001142782	0	0	5	5	0	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Nonsense_Mutation	SNP	ENST00000307546.9	37	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	40	8.026856	0.98616	.	.	ENSG00000081026	ENST00000307546;ENST00000546156	.	.	.	5.54	5.54	0.83059	.	0.934475	0.09072	N	0.852738	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-20.8351	19.8379	0.96666	0.0:0.0:1.0:0.0	.	.	.	.	X	1141;181	.	ENSP00000304604:E1141X	E	+	1	0	MAGI3	114027134	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.722000	0.74735	2.763000	0.94921	0.557000	0.71058	GAA	.		0.353	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900	
SPAG17	200162	broad.mit.edu;bcgsc.ca	37	1	118539252	118539252	+	Missense_Mutation	SNP	G	G	T	rs150351466		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:118539252G>T	ENST00000336338.5	-	33	4956	c.4891C>A	c.(4891-4893)Cat>Aat	p.H1631N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1631						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATTTGCTGATGATTCTTTTCA	0.313																																					p.H1631N		.											.	SPAG17-158	0			c.C4891A						.						98.0	98.0	98.0					1																	118539252		2203	4300	6503	SO:0001583	missense	200162	exon33			GCTGATGATTCTT		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4891C>A	1.37:g.118539252G>T	ENSP00000337804:p.His1631Asn	113	1		85	6	NM_206996	0	0	0	0	0	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386280	0.25031	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.17528	2.27	5.2	2.23	0.28157	.	0.930262	0.09292	N	0.822186	T	0.04182	0.0116	L	0.43152	1.355	0.26491	N	0.974949	P	0.35982	0.531	B	0.33042	0.157	T	0.43097	-0.9412	10	0.17832	T	0.49	.	6.6489	0.22951	0.3045:0.0:0.6955:0.0	.	1631	Q6Q759	SPG17_HUMAN	N	1631;111	ENSP00000337804:H1631N	ENSP00000337804:H1631N	H	-	1	0	SPAG17	118340775	0.255000	0.24002	0.966000	0.40874	0.989000	0.77384	0.267000	0.18552	0.307000	0.22880	0.655000	0.94253	CAT	G|1.000;A|0.000		0.313	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
TBX15	6913	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	119427957	119427957	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:119427957C>A	ENST00000369429.3	-	8	1216	c.1207G>T	c.(1207-1209)Gcc>Tcc	p.A403S	TBX15_ENST00000207157.3_Missense_Mutation_p.A297S			Q96SF7	TBX15_HUMAN	T-box 15	403					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TTGCTTCGGGCACATGGTGGA	0.537																																					p.A297S		.											.	TBX15-136	0			c.G889T						.						48.0	46.0	47.0					1																	119427957		2203	4300	6503	SO:0001583	missense	6913	exon8			TTCGGGCACATGG	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1207G>T	1.37:g.119427957C>A	ENSP00000358437:p.Ala403Ser	54	0		42	13	NM_152380	0	0	1	1	0	Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37		.	.	.	.	.	.	.	.	.	.	C	12.91	2.080437	0.36662	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873;ENST00000393149	T;T;T	0.76448	-1.02;-1.02;-1.02	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	L	0.36672	1.1	0.80722	D	1	P;P	0.47677	0.899;0.584	B;B	0.38985	0.287;0.213	T	0.62277	-0.6888	10	0.07325	T	0.83	.	19.1626	0.93539	0.0:1.0:0.0:0.0	.	200;403	E9PCG3;Q96SF7	.;TBX15_HUMAN	S	200;297;403;131;130	ENSP00000207157:A297S;ENSP00000358437:A403S;ENSP00000398625:A131S	ENSP00000207157:A297S	A	-	1	0	TBX15	119229480	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.455000	0.66658	2.768000	0.95171	0.561000	0.74099	GCC	.		0.537	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380	
MRPL9	65005	bcgsc.ca	37	1	151735532	151735532	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:151735532G>T	ENST00000368830.3	-	2	328	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	OAZ3_ENST00000479764.1_5'Flank|OAZ3_ENST00000321531.5_5'UTR|OAZ3_ENST00000315067.8_5'UTR|OAZ3_ENST00000453029.2_5'Flank|MRPL9_ENST00000368829.3_Missense_Mutation_p.L82M|RP11-98D18.3_ENST00000512280.1_RNA|MRPL9_ENST00000467306.1_5'UTR|RP11-98D18.2_ENST00000420382.1_RNA	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	82					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCCTCCACCAGCTTATAGACG	0.667																																					p.L82M		.											.	MRPL9-91	0			c.C244A						.						64.0	67.0	66.0					1																	151735532		2203	4300	6503	SO:0001583	missense	65005	exon2			CCACCAGCTTATA	AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"""Mitochondrial ribosomal proteins / large subunits"""	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.244C>A	1.37:g.151735532G>T	ENSP00000357823:p.Leu82Met	156	2		192	73	NM_031420	0	0	20	25	5	B2RD99|Q5SZR2|Q9BSW8	Missense_Mutation	SNP	ENST00000368830.3	37	CCDS1003.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969836	0.74246	.	.	ENSG00000143436	ENST00000368830;ENST00000368829	T;T	0.38401	1.14;1.18	4.84	2.91	0.33838	.	0.000000	0.64402	D	0.000007	T	0.39784	0.1091	M	0.63843	1.955	0.42913	D	0.994267	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.71184	0.972;0.972;0.945	T	0.37572	-0.9700	10	0.72032	D	0.01	-16.1404	6.9	0.24277	0.2166:0.0:0.7834:0.0	.	82;82;82	B4DDZ7;B4DUJ1;Q9BYD2	.;.;RM09_HUMAN	M	82	ENSP00000357823:L82M;ENSP00000357822:L82M	ENSP00000357822:L82M	L	-	1	2	MRPL9	150002156	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	1.308000	0.33528	1.239000	0.43787	0.655000	0.94253	CTG	.		0.667	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036653.2	NM_031420	
RORC	6097	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	151787731	151787731	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:151787731G>T	ENST00000318247.6	-	5	576	c.469C>A	c.(469-471)Cag>Aag	p.Q157K	RORC_ENST00000480719.1_5'Flank|RORC_ENST00000392697.3_Missense_Mutation_p.Q211K|RORC_ENST00000356728.6_Missense_Mutation_p.Q136K	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	157	Hinge. {ECO:0000255}.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGGGCAGCTGCCCGTCTGGG	0.637																																					p.Q157K		.											.	RORC-227	0			c.C469A						.						31.0	31.0	31.0					1																	151787731		2203	4300	6503	SO:0001583	missense	6097	exon5			GCAGCTGCCCGTC	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.469C>A	1.37:g.151787731G>T	ENSP00000327025:p.Gln157Lys	66	0		49	9	NM_005060	0	0	1	2	1	Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798138	0.31777	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.94497	-3.4;-3.44;-3.42	4.91	4.91	0.64330	.	1.073890	0.07242	U	0.864332	D	0.91566	0.7336	L	0.57536	1.79	0.38524	D	0.948797	B;B;B;B	0.30439	0.055;0.083;0.279;0.279	B;B;B;B	0.35899	0.029;0.122;0.213;0.213	D	0.83863	0.0269	10	0.40728	T	0.16	.	13.4634	0.61239	0.0:0.0:1.0:0.0	.	157;211;157;136	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	K	136;211;157	ENSP00000349164:Q136K;ENSP00000376461:Q211K;ENSP00000327025:Q157K	ENSP00000327025:Q157K	Q	-	1	0	RORC	150054355	1.000000	0.71417	0.991000	0.47740	0.909000	0.53808	5.489000	0.66875	2.532000	0.85374	0.563000	0.77884	CAG	.		0.637	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1		
LCE6A	448835	broad.mit.edu	37	1	152816014	152816014	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:152816014G>T	ENST00000431011.2	+	2	183	c.18G>T	c.(16-18)caG>caT	p.Q6H		NM_001128600.1	NP_001122072.1	A0A183	LCE6A_HUMAN	late cornified envelope 6A	6					keratinization (GO:0031424)												AGCAGAAGCAGCAATCTTGGA	0.517																																					p.Q6H		.											.	.	0			c.G18T						.						103.0	100.0	101.0					1																	152816014		692	1591	2283	SO:0001583	missense	448835	exon2			GAAGCAGCAATCT	DQ991251	CCDS44227.1	1q21.3	2011-05-24	2006-09-18	2006-09-18	ENSG00000235942	ENSG00000235942		"""Late cornified envelopes"""	31824	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 44"""	C1orf44			Standard	NM_001128600		Approved		uc001fas.4	A0A183	OTTHUMG00000012448	ENST00000431011.2:c.18G>T	1.37:g.152816014G>T	ENSP00000411070:p.Gln6His	80	2		81	11	NM_001128600	0	0	0	0	0		Missense_Mutation	SNP	ENST00000431011.2	37	CCDS44227.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738911	0.49045	.	.	ENSG00000235942	ENST00000431011	.	.	.	3.86	-1.56	0.08532	.	.	.	.	.	T	0.11024	0.0269	.	.	.	0.09310	N	1	B	0.23735	0.09	B	0.26310	0.068	T	0.33599	-0.9862	7	0.52906	T	0.07	.	2.6528	0.05003	0.3246:0.0:0.3243:0.351	.	6	A0A183	LCE6A_HUMAN	H	6	.	ENSP00000411070:Q6H	Q	+	3	2	LCE6A	151082638	0.086000	0.21541	0.161000	0.22692	0.958000	0.62258	0.517000	0.22832	-0.295000	0.08960	0.650000	0.86243	CAG	.		0.517	LCE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034661.2		
SPRR2A	6700	broad.mit.edu	37	1	153029123	153029123	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:153029123G>T	ENST00000392653.2	-	2	174	c.89C>A	c.(88-90)cCg>cAg	p.P30Q		NM_005988.2	NP_005979.1	P35326	SPR2A_HUMAN	small proline-rich protein 2A	30	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				large_intestine(2)|ovary(1)	3	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGGCACTTCGGGGGTGGACA	0.622																																					p.P30Q		.											.	SPRR2A-69	0			c.C89A						.						46.0	45.0	45.0					1																	153029123		2202	4277	6479	SO:0001583	missense	6700	exon2			CACTTCGGGGGTG	X53064	CCDS1034.1	1q21-q22	2008-02-05			ENSG00000241794	ENSG00000241794			11261	protein-coding gene	gene with protein product		182267				8325635	Standard	NM_005988		Approved		uc001fbd.3	P35326	OTTHUMG00000014395	ENST00000392653.2:c.89C>A	1.37:g.153029123G>T	ENSP00000376423:p.Pro30Gln	54	0		54	5	NM_005988	0	0	61	61	0	B2R4T3|D3DV35|Q5T529	Missense_Mutation	SNP	ENST00000392653.2	37	CCDS1034.1	.	.	.	.	.	.	.	.	.	.	G	3.452	-0.111722	0.06881	.	.	ENSG00000241794	ENST00000392653	T	0.53640	0.61	2.11	0.0839	0.14435	.	.	.	.	.	T	0.21962	0.0529	.	.	.	0.09310	N	1	D	0.57571	0.98	P	0.45946	0.498	T	0.08493	-1.0719	8	0.87932	D	0	.	3.2298	0.06745	0.1758:0.2816:0.5426:0.0	.	30	P35326	SPR2A_HUMAN	Q	30	ENSP00000376423:P30Q	ENSP00000376423:P30Q	P	-	2	0	SPRR2A	151295747	0.056000	0.20664	0.000000	0.03702	0.099000	0.18886	1.510000	0.35790	0.024000	0.15214	0.400000	0.26472	CCG	.		0.622	SPRR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040049.1	NM_005988	
IL6R	3570	broad.mit.edu;bcgsc.ca	37	1	154427044	154427044	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:154427044G>T	ENST00000368485.3	+	9	1584	c.1147G>T	c.(1147-1149)Gcc>Tcc	p.A383S	IL6R_ENST00000344086.4_Intron|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	383					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CCTCTGCATTGCCATTGTTCT	0.473																																					p.A383S		.											.	IL6R-229	0			c.G1147T						.						109.0	95.0	100.0					1																	154427044		2203	4300	6503	SO:0001583	missense	3570	exon9			TGCATTGCCATTG	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.1147G>T	1.37:g.154427044G>T	ENSP00000357470:p.Ala383Ser	84	0		68	7	NM_000565	0	0	0	0	0	A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	37	CCDS1067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.163|9.163	1.019179|1.019179	0.19355|0.19355	.|.	.|.	ENSG00000160712|ENSG00000160712	ENST00000368485|ENST00000515190	T|.	0.23147|.	1.92|.	4.23|4.23	3.28|3.28	0.37604|0.37604	.|.	1.283680|.	0.05207|.	N|.	0.506074|.	T|T	0.17323|0.17323	0.0416|0.0416	L|L	0.34521|0.34521	1.04|1.04	0.18873|0.18873	N|N	0.999981|0.999981	P|.	0.38922|.	0.651|.	B|.	0.24974|.	0.057|.	T|T	0.16541|0.16541	-1.0399|-1.0399	10|5	0.20046|.	T|.	0.44|.	-14.3486|-14.3486	8.8027|8.8027	0.34918|0.34918	0.0:0.0:0.765:0.235|0.0:0.0:0.765:0.235	.|.	383|.	P08887|.	IL6RA_HUMAN|.	S|F	383|185	ENSP00000357470:A383S|.	ENSP00000357470:A383S|.	A|L	+|+	1|3	0|2	IL6R|IL6R	152693668|152693668	0.002000|0.002000	0.14202|0.14202	0.003000|0.003000	0.11579|0.11579	0.011000|0.011000	0.07611|0.07611	0.904000|0.904000	0.28491|0.28491	0.933000|0.933000	0.37291|0.37291	0.555000|0.555000	0.69702|0.69702	GCC|TTG	.		0.473	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565	
KCNN3	3782	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	154841756	154841756	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:154841756C>A	ENST00000271915.4	-	1	1000	c.685G>T	c.(685-687)Gcc>Tcc	p.A229S	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	234					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GTCTGGTGGGCATGGTTGTCC	0.627																																					p.A229S		.											.	KCNN3-91	0			c.G685T						.						84.0	79.0	80.0					1																	154841756		2203	4300	6503	SO:0001583	missense	3782	exon1			GGTGGGCATGGTT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.685G>T	1.37:g.154841756C>A	ENSP00000271915:p.Ala229Ser	120	0		87	14	NM_001204087	0	0	0	0	0	B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	C	8.958	0.969815	0.18659	.	.	ENSG00000143603	ENST00000271915	D	0.94966	-3.57	4.88	2.86	0.33363	.	0.521782	0.16168	N	0.226448	T	0.73690	0.3619	N	0.08118	0	0.80722	D	1	B;B	0.12630	0.006;0.001	B;B	0.10450	0.005;0.002	T	0.67522	-0.5649	10	0.15952	T	0.53	-17.7855	5.3263	0.15908	0.2131:0.6833:0.0:0.1036	.	235;234	Q6JXY2;Q9UGI6	.;KCNN3_HUMAN	S	229	ENSP00000271915:A229S	ENSP00000271915:A229S	A	-	1	0	KCNN3	153108380	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	0.520000	0.22878	1.276000	0.44395	0.655000	0.94253	GCC	.		0.627	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249	
YY1AP1	55249	broad.mit.edu;bcgsc.ca	37	1	155630075	155630075	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:155630075G>T	ENST00000295566.4	-	11	1787	c.1764C>A	c.(1762-1764)atC>atA	p.I588I	MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368340.5_Silent_p.I660I|YY1AP1_ENST00000407221.1_Silent_p.I511I|YY1AP1_ENST00000347088.5_Silent_p.I542I|YY1AP1_ENST00000404643.1_Silent_p.I522I|YY1AP1_ENST00000311573.5_Silent_p.I511I|YY1AP1_ENST00000355499.4_Silent_p.I542I|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000535662.1_Silent_p.I388I|YY1AP1_ENST00000361831.5_Silent_p.I531I|YY1AP1_ENST00000359205.5_Silent_p.I531I|YY1AP1_ENST00000368339.5_Silent_p.I680I|YY1AP1_ENST00000368330.2_Silent_p.I542I	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	588					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GGGCAGGTTTGATACAGCGAA	0.522																																					p.I680I		.											.	YY1AP1-93	0			c.C2040A						.						136.0	130.0	132.0					1																	155630075		2203	4300	6503	SO:0001819	synonymous_variant	55249	exon10			AGGTTTGATACAG	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1764C>A	1.37:g.155630075G>T		270	1		257	25	NM_001198903	0	0	27	32	5	B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Silent	SNP	ENST00000295566.4	37	CCDS1115.1																																																																																			.		0.522	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118	
NTRK1	4914	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	156841476	156841476	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:156841476G>T	ENST00000524377.1	+	7	820	c.779G>T	c.(778-780)aGg>aTg	p.R260M	NTRK1_ENST00000358660.3_Missense_Mutation_p.R260M|NTRK1_ENST00000392302.2_Missense_Mutation_p.R230M|NTRK1_ENST00000368196.3_Missense_Mutation_p.R260M	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	260	Ig-like C2-type 1.		R -> G (in dbSNP:rs35116695). {ECO:0000269|PubMed:17344846}.		activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GACCTCAACAGGAAGAACGTG	0.577			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																											p.R260M		.		Dom	yes		1	1q21-q22	4914	"""neurotrophic tyrosine kinase, receptor, type 1"""		E	.	NTRK1-1393	0			c.G779T						.						94.0	80.0	85.0					1																	156841476		2203	4300	6503	SO:0001583	missense	4914	exon7			TCAACAGGAAGAA	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.779G>T	1.37:g.156841476G>T	ENSP00000431418:p.Arg260Met	138	0		161	21	NM_001012331	0	0	0	0	0	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672538	0.29693	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	4.37	1.29	0.21616	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.259903	0.27792	N	0.017827	T	0.06416	0.0165	L	0.29908	0.895	0.28810	N	0.898318	B;P;D;P	0.63046	0.345;0.723;0.992;0.599	B;B;P;B	0.49012	0.165;0.115;0.598;0.298	T	0.18335	-1.0340	10	0.56958	D	0.05	.	7.0025	0.24817	0.5339:0.0:0.4661:0.0	.	260;260;260;230	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	M	230;260;260;260	ENSP00000376120:R230M;ENSP00000357179:R260M;ENSP00000431418:R260M;ENSP00000351486:R260M	ENSP00000351486:R260M	R	+	2	0	NTRK1	155108100	1.000000	0.71417	0.999000	0.59377	0.783000	0.44284	1.557000	0.36299	0.163000	0.19507	-0.136000	0.14681	AGG	.		0.577	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529	
FCRL3	115352	broad.mit.edu;bcgsc.ca	37	1	157665960	157665960	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:157665960C>A	ENST00000368184.3	-	7	1293	c.1002G>T	c.(1000-1002)aaG>aaT	p.K334N	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.K334N|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	334	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AACGCTGGGTCTTTCTACCCA	0.507																																					p.K334N		.											.	FCRL3-156	0			c.G1002T						.						130.0	117.0	122.0					1																	157665960		2203	4300	6503	SO:0001583	missense	115352	exon7			CTGGGTCTTTCTA	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1002G>T	1.37:g.157665960C>A	ENSP00000357167:p.Lys334Asn	138	2		112	6	NM_052939	0	0	0	0	0	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968101	0.53614	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.12984	2.63;2.63	5.35	0.975	0.19721	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.15522	0.0374	M	0.72894	2.215	0.09310	N	1	P;D;P	0.55172	0.888;0.97;0.864	P;D;P	0.65987	0.649;0.94;0.461	T	0.06303	-1.0834	9	0.39692	T	0.17	.	7.5824	0.27972	0.0:0.5907:0.0:0.4093	.	334;239;334	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	N	334	ENSP00000357169:K334N;ENSP00000357167:K334N	ENSP00000292392:K334N	K	-	3	2	FCRL3	155932584	0.873000	0.30073	0.004000	0.12327	0.050000	0.14768	0.897000	0.28390	0.156000	0.19299	0.655000	0.94253	AAG	.		0.507	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939	
LY9	4063	bcgsc.ca	37	1	160784476	160784476	+	Missense_Mutation	SNP	G	G	A	rs370415842		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:160784476G>A	ENST00000263285.6	+	4	1027	c.997G>A	c.(997-999)Ggc>Agc	p.G333S	LY9_ENST00000341032.4_Missense_Mutation_p.G333S|LY9_ENST00000392203.4_Missense_Mutation_p.G333S|LY9_ENST00000368037.5_Missense_Mutation_p.G333S|LY9_ENST00000368041.2_Missense_Mutation_p.G293S|LY9_ENST00000368040.1_5'UTR			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	333	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGAGGACGCCGGCCCCTACCA	0.572																																					p.G333S		.											.	LY9-91	0			c.G997A						.	G	SER/GLY	0,4406		0,0,2203	57.0	53.0	54.0		997	2.1	0.1	1		54	1,8599	1.2+/-3.3	0,1,4299	no	missense	LY9	NM_002348.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	333/656	160784476	1,13005	2203	4300	6503	SO:0001583	missense	4063	exon4			GACGCCGGCCCCT	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.997G>A	1.37:g.160784476G>A	ENSP00000263285:p.Gly333Ser	164	4		161	143	NM_001261457	0	0	0	0	0	A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842763	0.51057	0.0	1.16E-4	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000392203;ENST00000368037;ENST00000368036	T;T	0.11604	2.76;2.76	3.05	2.13	0.27403	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.21427	0.0516	M	0.90082	3.085	0.24066	N	0.995999	D;D;D;D;D;D	0.89917	1.0;1.0;0.996;1.0;1.0;1.0	D;D;P;D;D;D	0.97110	0.999;0.999;0.666;0.999;1.0;0.999	T	0.04165	-1.0972	9	0.87932	D	0	-20.935	5.9351	0.19161	0.1436:0.0:0.8564:0.0	.	333;293;293;333;333;333	B4E0J5;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	S	333;333;333;333;293;293;235	ENSP00000342921:G333S;ENSP00000263285:G333S	ENSP00000263285:G333S	G	+	1	0	LY9	159051100	0.838000	0.29461	0.072000	0.20136	0.013000	0.08279	2.419000	0.44671	0.838000	0.34948	0.563000	0.77884	GGC	.		0.572	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348	
FMO1	2326	ucsc.edu	37	1	171227313	171227313	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:171227313C>A	ENST00000354841.4	+	1	218	c.87C>A	c.(85-87)acC>acA	p.T29T	FMO1_ENST00000367750.3_Silent_p.T29T|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Silent_p.T29T	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	29					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TGGAGCCCACCTGCTTTGAGA	0.557																																					p.T29T		.											.	FMO1-515	0			c.C87A						.						104.0	102.0	103.0					1																	171227313		2203	4300	6503	SO:0001819	synonymous_variant	2326	exon2			GCCCACCTGCTTT	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.87C>A	1.37:g.171227313C>A		57	3		47	10	NM_002021	0	0	0	0	0	A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Silent	SNP	ENST00000354841.4	37	CCDS1294.1																																																																																			.		0.557	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021	
TOR3A	64222	hgsc.bcm.edu	37	1	179051300	179051300	+	Missense_Mutation	SNP	T	T	C	rs2296377	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:179051300T>C	ENST00000367627.3	+	1	789	c.37T>C	c.(37-39)Ttc>Ctc	p.F13L	TOR3A_ENST00000352445.6_Missense_Mutation_p.F13L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	13			F -> L (in dbSNP:rs2296377). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTGGCTCTTTTTCCTGCTGCT	0.751													C|||	3842	0.767173	0.9879	0.6441	5008	,	,		12722	0.6677		0.7117	False		,,,				2504	0.7157				p.F13L		.											.	TOR3A-90	0			c.T37C						.	C	LEU/PHE	3262,174		1547,168,3	2.0	3.0	3.0		37	-0.8	0.0	1	dbSNP_100	3	5365,1739		2051,1263,238	yes	missense	TOR3A	NM_022371.3	22	3598,1431,241	CC,CT,TT		24.4792,5.064,18.1499	benign	13/398	179051300	8627,1913	1718	3552	5270	SO:0001583	missense	64222	exon1			CTCTTTTTCCTGC	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.37T>C	1.37:g.179051300T>C	ENSP00000356599:p.Phe13Leu	0	0		9	9	NM_022371	0	0	0	2	2	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	1679	0.7687728937728938	484	0.983739837398374	250	0.6906077348066298	393	0.6870629370629371	552	0.7282321899736148	C	0.033	-1.323382	0.01309	0.94936	0.755208	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445	T;T;T	0.35421	1.31;1.4;1.63	0.427	-0.794	0.10918	.	1.274350	0.05916	N	0.632520	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	8	0.02654	T	1	-1.1524	.	.	.	rs2296377;rs17844883;rs17856371;rs17857600;rs17857917;rs17858479;rs59034332;rs2296377	13	Q9H497	TOR3A_HUMAN	L	13	ENSP00000356599:F13L;ENSP00000356597:F13L;ENSP00000335351:F13L	ENSP00000335351:F13L	F	+	1	0	TOR3A	177317923	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.490000	0.02304	-1.608000	0.01587	-1.610000	0.00802	TTC	T|0.229;C|0.771		0.751	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371	
RGSL1	353299	broad.mit.edu	37	1	182443145	182443145	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:182443145C>A	ENST00000294854.8	+	6	919	c.899C>A	c.(898-900)tCa>tAa	p.S300*	RGSL1_ENST00000542961.1_Nonsense_Mutation_p.S335*	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1	300					termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)				central_nervous_system(2)|skin(4)	6						ATGGCTTCTTCAAAGGAAACA	0.448																																					p.S300X	Ovarian(71;11 616 11292 12944 18021 32289 33994 41738 46526)	.											.	RGSL1-226	0			c.C899A						.						87.0	77.0	80.0					1																	182443145		692	1591	2283	SO:0001587	stop_gained	353299	exon6			CTTCTTCAAAGGA	AF510428	CCDS58049.1	1q25	2013-04-02	2007-08-14		ENSG00000121446	ENSG00000121446			18636	protein-coding gene	gene with protein product		611012	"""regulator of G-protein signalling like 1"", ""regulator of G-protein signaling like 2"", ""regulator of G-protein signalling like 2"""	RGSL2		12801632	Standard	NM_001137669		Approved		uc009wxw.3	A5PLK6	OTTHUMG00000035217	ENST00000294854.8:c.899C>A	1.37:g.182443145C>A	ENSP00000457748:p.Ser300*	106	0		92	4	NM_001137669	0	0	0	0	0	A2A2Z0|A6PVM2|A6PVM3|Q0VAJ4|Q0VAJ5|Q6ZRL0|Q86UV0|Q9H084	Nonsense_Mutation	SNP	ENST00000294854.8	37	CCDS58049.1																																																																																			.		0.448	RGSL1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320710.3	NM_181572	
HMCN1	83872	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	186050464	186050464	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:186050464G>T	ENST00000271588.4	+	56	8954	c.8725G>T	c.(8725-8727)Gat>Tat	p.D2909Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.D2909Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2909	Ig-like C2-type 27.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGGCAGAAAGATGGACAGCC	0.423																																					p.D2909Y		.											.	HMCN1-113	0			c.G8725T						.						136.0	132.0	133.0					1																	186050464		2203	4300	6503	SO:0001583	missense	83872	exon56			CAGAAAGATGGAC	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8725G>T	1.37:g.186050464G>T	ENSP00000271588:p.Asp2909Tyr	72	1		77	24	NM_031935	0	0	0	0	0	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882534	0.91740	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.70045	-0.45;-0.45	5.86	5.86	0.93980	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88937	0.6573	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91804	0.5454	10	0.87932	D	0	.	20.1772	0.98182	0.0:0.0:1.0:0.0	.	2909	Q96RW7	HMCN1_HUMAN	Y	2909	ENSP00000271588:D2909Y;ENSP00000356462:D2909Y	ENSP00000271588:D2909Y	D	+	1	0	HMCN1	184317087	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	7.532000	0.81985	2.778000	0.95560	0.655000	0.94253	GAT	.		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
TPR	7175	hgsc.bcm.edu;bcgsc.ca	37	1	186301382	186301382	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:186301382G>T	ENST00000367478.4	-	38	5845	c.5549C>A	c.(5548-5550)aCa>aAa	p.T1850K		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1850	Sufficient and essential for mediating its nuclear import.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CATTTCCACTGTATCATCAGA	0.428			T	NTRK1	papillary thyroid																																p.T1850K		.		Dom	yes		1	1q25	7175	translocated promoter region		E	.	TPR-228	0			c.C5549A						.						133.0	127.0	129.0					1																	186301382		1895	4114	6009	SO:0001583	missense	7175	exon38			TCCACTGTATCAT	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5549C>A	1.37:g.186301382G>T	ENSP00000356448:p.Thr1850Lys	107	0		78	4	NM_003292	0	0	12	12	0	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346820	0.61073	.	.	ENSG00000047410	ENST00000367478	T	0.23950	1.88	4.64	4.64	0.57946	.	0.175366	0.48767	D	0.000161	T	0.23532	0.0569	M	0.62723	1.935	0.41875	D	0.990294	P	0.48764	0.915	B	0.36922	0.236	T	0.07309	-1.0779	10	0.33141	T	0.24	.	12.0395	0.53444	0.0835:0.0:0.9165:0.0	.	1850	P12270	TPR_HUMAN	K	1850	ENSP00000356448:T1850K	ENSP00000356448:T1850K	T	-	2	0	TPR	184568005	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	2.819000	0.48049	2.111000	0.64477	0.563000	0.77884	ACA	.		0.428	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
PLA2G4A	5321	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	186909138	186909138	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:186909138G>T	ENST00000367466.3	+	10	1097	c.945G>T	c.(943-945)ttG>ttT	p.L315F	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.L255F	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	315	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	TGAGCAGTTTGAAGGAAAAAG	0.358																																					p.L315F		.											.	PLA2G4A-721	0			c.G945T						.						142.0	133.0	136.0					1																	186909138		2203	4300	6503	SO:0001583	missense	5321	exon10			CAGTTTGAAGGAA	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.945G>T	1.37:g.186909138G>T	ENSP00000356436:p.Leu315Phe	53	0		70	7	NM_024420	0	0	2	2	0	B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908382	0.33721	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.15139	2.45;2.45	5.67	4.76	0.60689	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.156955	0.52532	D	0.000073	T	0.12220	0.0297	N	0.16478	0.41	0.42300	D	0.992175	B;B	0.10296	0.003;0.002	B;B	0.20767	0.026;0.031	T	0.07271	-1.0781	10	0.38643	T	0.18	-15.6514	13.4609	0.61227	0.0751:0.0:0.9249:0.0	.	255;315	E7EU42;P47712	.;PA24A_HUMAN	F	315;255	ENSP00000356436:L315F;ENSP00000406892:L255F	ENSP00000356436:L315F	L	+	3	2	PLA2G4A	185175761	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	3.562000	0.53777	1.380000	0.46344	0.650000	0.86243	TTG	.		0.358	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420	
CFHR2	3080	ucsc.edu;bcgsc.ca	37	1	196883674	196883674	+	Intron	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:196883674C>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000251424.4_Silent_p.G163G|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367416.2_Silent_p.G409G|CFHR4_ENST00000367418.2_Silent_p.G163G			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						AGAGTAATGGCATGCGGTTTA	0.393																																					p.G410G		.											.	CFHR4-93	0			c.C1230A						.						129.0	115.0	119.0					1																	196883674		1905	4136	6041	SO:0001627	intron_variant	10877	exon8			TAATGGCATGCGG	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34911C>A	1.37:g.196883674C>A		492	6		344	45	NM_001201550	0	0	0	0	0	Q14310|Q5T9T1	Silent	SNP	ENST00000367421.3	37																																																																																				.		0.393	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666	
CACNA1S	779	broad.mit.edu;bcgsc.ca	37	1	201058470	201058470	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:201058470G>T	ENST00000362061.3	-	6	1042	c.816C>A	c.(814-816)atC>atA	p.I272I	CACNA1S_ENST00000367338.3_Silent_p.I272I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	272					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGAAGTGGGTGATGCCATGGT	0.637																																					p.I272I		.											.	CACNA1S-94	0			c.C816A						.						91.0	74.0	80.0					1																	201058470		2203	4300	6503	SO:0001819	synonymous_variant	779	exon6			GTGGGTGATGCCA	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.816C>A	1.37:g.201058470G>T		180	2		241	10	NM_000069	0	0	0	0	0	A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	CCDS1407.1																																																																																			.		0.637	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
IGFN1	91156	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	201193916	201193916	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:201193916G>T	ENST00000335211.4	+	21	10530	c.10400G>T	c.(10399-10401)gGa>gTa	p.G3467V	IGFN1_ENST00000295591.8_Intron|RP11-567E21.3_ENST00000453155.1_RNA	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1010						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCTGTGGCTGGACTCTCAGAC	0.582																																					p.G3467V		.											.	IGFN1-71	0			c.G10400T						.						101.0	77.0	85.0					1																	201193916		2203	4300	6503	SO:0001583	missense	91156	exon21			TGGCTGGACTCTC	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10400G>T	1.37:g.201193916G>T	ENSP00000334714:p.Gly3467Val	154	1		200	76	NM_001164586	0	0	0	0	0	F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.358|6.358	0.434175|0.434175	0.12045|0.12045	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000335211|ENST00000412892	T|.	0.66995|.	-0.24|.	4.11|4.11	4.11|4.11	0.48088|0.48088	.|.	0.376818|.	0.27764|.	N|.	0.017954|.	T|T	0.32041|0.32041	0.0816|0.0816	N|N	0.11154|0.11154	0.105|0.105	0.80722|0.80722	D|D	1|1	P|.	0.52170|.	0.951|.	P|.	0.52454|.	0.699|.	T|T	0.10132|0.10132	-1.0643|-1.0643	10|5	0.59425|.	D|.	0.04|.	.|.	5.8554|5.8554	0.18716|0.18716	0.1806:0.0:0.8194:0.0|0.1806:0.0:0.8194:0.0	.|.	3467|.	F8WAI1|.	.|.	V|C	3467|884	ENSP00000334714:G3467V|.	ENSP00000334714:G3467V|.	G|W	+|+	2|3	0|0	IGFN1|IGFN1	199460539|199460539	0.979000|0.979000	0.34478|0.34478	0.839000|0.839000	0.33178|0.33178	0.081000|0.081000	0.17604|0.17604	4.563000|4.563000	0.60823|0.60823	2.102000|2.102000	0.63906|0.63906	0.491000|0.491000	0.48974|0.48974	GGA|TGG	.		0.582	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275	
TMEM183A	92703	bcgsc.ca	37	1	202985162	202985162	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:202985162C>A	ENST00000367242.3	+	5	682	c.602C>A	c.(601-603)gCt>gAt	p.A201D	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3	Q8IXX5	T183A_HUMAN	transmembrane protein 183A	201						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			TGTCTCCGGGCTTGTGTGATC	0.507																																					p.A201D		.											.	TMEM183A-90	0			c.C602A						.						149.0	143.0	145.0					1																	202985162		2203	4300	6503	SO:0001583	missense	92703	exon5			TCCGGGCTTGTGT	BC013073	CCDS1432.1	1q31.1	2008-09-09	2006-12-18	2006-12-18	ENSG00000163444	ENSG00000163444			20173	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 37"""	C1orf37			Standard	NM_138391		Approved		uc001gyu.1	Q8IXX5	OTTHUMG00000042051	ENST00000367242.3:c.602C>A	1.37:g.202985162C>A	ENSP00000356211:p.Ala201Asp	108	3		87	42	NM_138391	0	0	19	31	12	A8K5W1|Q6NW15|Q96E06	Missense_Mutation	SNP	ENST00000367242.3	37	CCDS1432.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142606	0.94560	.	.	ENSG00000163444	ENST00000367242	T	0.28895	1.59	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.59487	0.2197	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.988;0.992;0.995	T	0.63033	-0.6727	10	0.87932	D	0	-7.6073	19.1413	0.93446	0.0:1.0:0.0:0.0	.	201;201;201;201	A8K5W1;Q8IXX5-2;Q1AE95;Q8IXX5	.;.;T183B_HUMAN;T183A_HUMAN	D	201	ENSP00000356211:A201D	ENSP00000356211:A201D	A	+	2	0	TMEM183A	201251785	1.000000	0.71417	0.978000	0.43139	0.997000	0.91878	5.788000	0.69020	2.679000	0.91253	0.655000	0.94253	GCT	.		0.507	TMEM183A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100129.1	NM_138391	
LRRN2	10446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	204588338	204588338	+	Silent	SNP	G	G	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:204588338G>A	ENST00000367175.1	-	1	2995	c.783C>T	c.(781-783)ccC>ccT	p.P261P	LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Silent_p.P261P|LRRN2_ENST00000367177.3_Silent_p.P261P|RP11-430C7.4_ENST00000453895.1_RNA			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	261					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ACTTGAGCCCGGGCACCTGTT	0.617																																					p.P261P		.											.	LRRN2-514	0			c.C783T						.						33.0	39.0	37.0					1																	204588338		2203	4300	6503	SO:0001819	synonymous_variant	10446	exon3			GAGCCCGGGCACC	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.783C>T	1.37:g.204588338G>A		46	0		50	7	NM_006338	0	0	0	0	0	B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	ENST00000367175.1	37	CCDS1448.1																																																																																			.		0.617	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338	
DSTYK	25778	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	205156626	205156626	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:205156626G>T	ENST00000367162.3	-	2	604	c.574C>A	c.(574-576)Ctg>Atg	p.L192M	DSTYK_ENST00000367160.4_Missense_Mutation_p.L192M|DSTYK_ENST00000367161.3_Missense_Mutation_p.L192M	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	192					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TGGACCTCCAGATCCTCCTCA	0.527																																					p.L192M		.											.	DSTYK-333	0			c.C574A						.						99.0	71.0	80.0					1																	205156626		2203	4300	6503	SO:0001583	missense	25778	exon2			CCTCCAGATCCTC	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.574C>A	1.37:g.205156626G>T	ENSP00000356130:p.Leu192Met	148	1		128	53	NM_199462	0	0	1	1	0	B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619446	0.66787	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	D;D;D	0.85556	-1.75;-1.97;-2.0	5.39	2.51	0.30379	.	0.000000	0.64402	D	0.000001	D	0.87696	0.6242	L	0.55990	1.75	0.46376	D	0.99901	D;D	0.64830	0.994;0.989	D;P	0.64687	0.928;0.849	D	0.84838	0.0806	10	0.49607	T	0.09	-11.5059	8.8829	0.35384	0.3503:0.0:0.6497:0.0	.	192;192	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	M	192	ENSP00000356128:L192M;ENSP00000356129:L192M;ENSP00000356130:L192M	ENSP00000356128:L192M	L	-	1	2	DSTYK	203423249	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.720000	0.38022	0.257000	0.21650	0.561000	0.74099	CTG	.		0.527	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375	
ACBD3	64746	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	226347014	226347014	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:226347014G>T	ENST00000366812.5	-	5	828	c.774C>A	c.(772-774)ttC>ttA	p.F258L	ACBD3_ENST00000464927.1_Intron	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	258	Gln-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CATACTGCTGGAACTGCACGG	0.453																																					p.F258L		.											.	ACBD3-226	0			c.C774A						.						176.0	150.0	159.0					1																	226347014		2203	4300	6503	SO:0001583	missense	64746	exon5			CTGCTGGAACTGC	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.774C>A	1.37:g.226347014G>T	ENSP00000355777:p.Phe258Leu	182	1		153	23	NM_022735	0	0	6	9	3	B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	G	35	5.469841	0.96274	.	.	ENSG00000182827	ENST00000366812	T	0.19806	2.12	5.73	5.73	0.89815	.	0.047019	0.85682	D	0.000000	T	0.47911	0.1471	M	0.69823	2.125	0.80722	D	1	D	0.58268	0.982	D	0.67548	0.952	T	0.33854	-0.9852	10	0.52906	T	0.07	-14.7394	19.8989	0.96978	0.0:0.0:1.0:0.0	.	258	Q9H3P7	GCP60_HUMAN	L	258	ENSP00000355777:F258L	ENSP00000355777:F258L	F	-	3	2	ACBD3	224413637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.397000	0.97276	2.706000	0.92434	0.555000	0.69702	TTC	.		0.453	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735	
DISC1	27185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	232144789	232144789	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:232144789G>T	ENST00000439617.2	+	11	2354	c.2301G>T	c.(2299-2301)caG>caT	p.Q767H	DISC1_ENST00000535983.1_3'UTR|DISC1_ENST00000537876.1_3'UTR|DISC1_ENST00000366637.3_Intron	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	767	Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GAGGTGAACAGAAAGAGGTCT	0.502																																					p.Q799H		.											.	DISC1-91	0			c.G2397T						.						68.0	64.0	65.0					1																	232144789		1877	4117	5994	SO:0001583	missense	27185	exon12			TGAACAGAAAGAG	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000439617.2:c.2301G>T	1.37:g.232144789G>T	ENSP00000403888:p.Gln767His	55	0		43	19	NM_001164537	0	0	0	0	0	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000439617.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.004|8.004	0.756015|0.756015	0.15846|0.15846	.|.	.|.	ENSG00000162946|ENSG00000162946	ENST00000439617;ENST00000366638;ENST00000532576|ENST00000422590	T|.	0.08458|.	3.09|.	4.72|4.72	0.661|0.661	0.17874|0.17874	.|.	.|.	.|.	.|.	.|.	T|T	0.27524|0.27524	0.0676|0.0676	N|N	0.08118|0.08118	0|0	0.48830|0.48830	D|D	0.999715|0.999715	B;B;B;B;B|.	0.14805|.	0.002;0.011;0.011;0.004;0.011|.	B;B;B;B;B|.	0.15052|.	0.004;0.012;0.012;0.007;0.012|.	T|T	0.03433|0.03433	-1.1037|-1.1037	9|5	0.14656|.	T|.	0.56|.	-0.0162|-0.0162	4.8752|4.8752	0.13653|0.13653	0.1914:0.3404:0.4682:0.0|0.1914:0.3404:0.4682:0.0	.|.	799;645;767;645;767|.	C4P096;C4P094;C4P098;F5H1F1;Q9NRI5|.	.;.;.;.;DISC1_HUMAN|.	H|I	767;799;645|170	ENSP00000403888:Q767H|.	ENSP00000355598:Q799H|.	Q|R	+|+	3|2	2|0	DISC1|DISC1	230211412|230211412	0.983000|0.983000	0.35010|0.35010	0.042000|0.042000	0.18584|0.18584	0.481000|0.481000	0.33189|0.33189	0.756000|0.756000	0.26419|0.26419	-0.033000|-0.033000	0.13736|0.13736	0.650000|0.650000	0.86243|0.86243	CAG|AGA	.		0.502	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000092351.2	NM_018662	
NTPCR	84284	ucsc.edu	37	1	233105834	233105834	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:233105834C>G	ENST00000366628.5	+	4	561	c.474C>G	c.(472-474)atC>atG	p.I158M	NTPCR_ENST00000490098.1_3'UTR|NTPCR_ENST00000366627.4_Missense_Mutation_p.I158M	NM_032324.1	NP_115700.1	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	158						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|nucleoside-triphosphatase activity (GO:0017111)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(1)|ovary(1)	4						TAGAAGAAATCAGAAACAGAA	0.438																																					p.I158M		.											.	NTPCR-91	0			c.C474G						.						73.0	70.0	71.0					1																	233105834		2203	4300	6503	SO:0001583	missense	84284	exon4			AGAAATCAGAAAC	BC005102	CCDS1597.1	1q42.2	2010-12-20	2010-12-20	2010-12-20	ENSG00000135778	ENSG00000135778	3.6.1.15		28204	protein-coding gene	gene with protein product	"""human cancer-related NTPase"""		"""chromosome 1 open reading frame 57"""	C1orf57		17291528	Standard	NM_032324		Approved	MGC13186, HCR-NTPase	uc001hvj.1	Q9BSD7	OTTHUMG00000037822	ENST00000366628.5:c.474C>G	1.37:g.233105834C>G	ENSP00000355587:p.Ile158Met	189	4		181	24	NM_032324	0	0	37	40	3		Missense_Mutation	SNP	ENST00000366628.5	37	CCDS1597.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250242	0.39797	.	.	ENSG00000135778	ENST00000366628;ENST00000366627	T;T	0.54071	0.59;0.59	4.85	-7.92	0.01160	ATPase, AAA+ type, core (1);	0.103469	0.64402	D	0.000003	T	0.67757	0.2927	M	0.87269	2.87	0.32701	N	0.512814	P;D	0.67145	0.955;0.996	D;D	0.77557	0.967;0.99	T	0.74847	-0.3525	10	0.49607	T	0.09	-0.9045	13.6716	0.62430	0.1825:0.657:0.0:0.1606	.	158;158	Q9BSD7;Q5TDF0	NTPCR_HUMAN;.	M	158	ENSP00000355587:I158M;ENSP00000355586:I158M	ENSP00000355586:I158M	I	+	3	3	NTPCR	231172457	0.042000	0.20092	0.001000	0.08648	0.578000	0.36192	-0.646000	0.05403	-1.444000	0.01950	-0.262000	0.10625	ATC	.		0.438	NTPCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092324.2	NM_032324	
FH	2271	ucsc.edu	37	1	241667408	241667408	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:241667408C>A	ENST00000366560.3	-	7	1080	c.1042G>T	c.(1042-1044)Ggt>Tgt	p.G348C		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	348					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		GACCGAGGACCAGAACCCAAA	0.458			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												p.G348C	Melanoma(148;1573 2486 7381 46575)	.	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	fumarate hydratase		"""E, M"""	.	FH-416	0			c.G1042T						.						111.0	89.0	96.0					1																	241667408		2203	4300	6503	SO:0001583	missense	2271	exon7	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	GAGGACCAGAACC	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1042G>T	1.37:g.241667408C>A	ENSP00000355518:p.Gly348Cys	144	2		79	14	NM_000143	0	0	95	116	21	B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670707	0.88348	.	.	ENSG00000091483	ENST00000366560	D	0.99674	-6.36	5.73	5.73	0.89815	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96310	0.9228	10	0.87932	D	0	-15.1198	17.3941	0.87440	0.0:1.0:0.0:0.0	.	348	P07954	FUMH_HUMAN	C	348	ENSP00000355518:G348C	ENSP00000355518:G348C	G	-	1	0	FH	239734031	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.293000	0.78740	2.709000	0.92574	0.655000	0.94253	GGT	.		0.458	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143	
EXO1	9156	broad.mit.edu	37	1	242042620	242042620	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:242042620G>T	ENST00000366548.3	+	13	2677	c.2084G>T	c.(2083-2085)tGc>tTc	p.C695F	EXO1_ENST00000518483.1_Missense_Mutation_p.C695F|EXO1_ENST00000348581.5_Missense_Mutation_p.C695F	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	695	Interaction with MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.C695Y(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CTTTCTCAGTGCTCTAGTAAG	0.393								Editing and processing nucleases																													p.C695F		.											.	EXO1-661	1	Substitution - Missense(1)	lung(1)	c.G2084T						.						38.0	41.0	40.0					1																	242042620		2188	4296	6484	SO:0001583	missense	9156	exon13			CTCAGTGCTCTAG	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.2084G>T	1.37:g.242042620G>T	ENSP00000355506:p.Cys695Phe	28	0		28	6	NM_130398	0	0	2	4	2	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	3.964	-0.009659	0.07727	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.32023	1.47;1.47;1.47	5.16	1.6	0.23607	.	0.777712	0.12289	N	0.482157	T	0.13030	0.0316	N	0.08118	0	0.22171	N	0.999318	B;B;B	0.17852	0.011;0.024;0.011	B;B;B	0.20767	0.01;0.031;0.01	T	0.20840	-1.0263	10	0.49607	T	0.09	-22.0011	0.8968	0.01265	0.2145:0.3783:0.2212:0.1861	.	694;695;695	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	F	695	ENSP00000355506:C695F;ENSP00000311873:C695F;ENSP00000430251:C695F	ENSP00000311873:C695F	C	+	2	0	EXO1	240109243	0.254000	0.23992	0.954000	0.39281	0.002000	0.02628	0.778000	0.26732	0.638000	0.30545	-0.153000	0.13522	TGC	.		0.393	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027	
SFMBT2	57713	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	7214601	7214601	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:7214601C>A	ENST00000361972.4	-	18	2097	c.2007G>T	c.(2005-2007)aaG>aaT	p.K669N	SFMBT2_ENST00000397167.1_Missense_Mutation_p.K669N	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	669					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGGAGATCTTCTTTCTCTTTC	0.502																																					p.K669N		.											.	SFMBT2-141	0			c.G2007T						.						47.0	56.0	53.0					10																	7214601		2203	4300	6503	SO:0001583	missense	57713	exon18			GATCTTCTTTCTC	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2007G>T	10.37:g.7214601C>A	ENSP00000355109:p.Lys669Asn	21	0		22	9	NM_001029880	0	0	0	0	0	A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153162	0.38021	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.18016	2.24;2.24	5.37	2.44	0.29823	.	0.364056	0.33161	N	0.005218	T	0.15998	0.0385	L	0.55481	1.735	0.80722	D	1	B	0.31383	0.321	B	0.29353	0.101	T	0.04664	-1.0935	10	0.72032	D	0.01	.	9.2549	0.37577	0.0:0.6389:0.0:0.3611	.	669	Q5VUG0	SMBT2_HUMAN	N	669	ENSP00000355109:K669N;ENSP00000380353:K669N	ENSP00000355109:K669N	K	-	3	2	SFMBT2	7254607	0.997000	0.39634	0.997000	0.53966	0.439000	0.31926	0.885000	0.28227	0.622000	0.30249	-0.350000	0.07774	AAG	.		0.502	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	
GATA3	2625	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	8115981	8115981	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:8115981G>T	ENST00000346208.3	+	6	1782	c.1327G>T	c.(1327-1329)Ggt>Tgt	p.G443C	GATA3_ENST00000379328.3_Missense_Mutation_p.G444C|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	443					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CACCGCCATGGGTTAGAGCCC	0.612			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																														p.G444C		.		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	.	GATA3-1004	0			c.G1330T						.						69.0	58.0	62.0					10																	8115981		2203	4300	6503	SO:0001583	missense	2625	exon6			GCCATGGGTTAGA	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1327G>T	10.37:g.8115981G>T	ENSP00000341619:p.Gly443Cys	61	0		64	26	NM_001002295	0	0	1	1	0	Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462438	0.63513	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.98732	-5.1;-5.05	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.98648	0.9547	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99930	1.1312	10	0.87932	D	0	-16.2764	19.5966	0.95541	0.0:0.0:1.0:0.0	.	443;444	P23771;P23771-2	GATA3_HUMAN;.	C	444;443	ENSP00000368632:G444C;ENSP00000341619:G443C	ENSP00000341619:G443C	G	+	1	0	GATA3	8155987	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	9.480000	0.97931	2.622000	0.88805	0.561000	0.74099	GGT	.		0.612	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295	
DHTKD1	55526	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	12148305	12148305	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:12148305G>T	ENST00000263035.4	+	11	2019	c.1957G>T	c.(1957-1959)Gag>Tag	p.E653*		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	653					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GATGAGCATTGAGAGCCCAAA	0.512																																					p.E653X		.											.	DHTKD1-515	0			c.G1957T						.						191.0	167.0	175.0					10																	12148305		2203	4300	6503	SO:0001587	stop_gained	55526	exon11			AGCATTGAGAGCC	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1957G>T	10.37:g.12148305G>T	ENSP00000263035:p.Glu653*	189	1		120	55	NM_018706	0	0	2	2	0	Q68CU5|Q9BUM8|Q9HCE2	Nonsense_Mutation	SNP	ENST00000263035.4	37	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	39	7.406784	0.98265	.	.	ENSG00000181192	ENST00000263035	.	.	.	6.01	6.01	0.97437	.	0.210676	0.49916	D	0.000123	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.241	18.764	0.91865	0.0:0.0:1.0:0.0	.	.	.	.	X	653	.	ENSP00000263035:E653X	E	+	1	0	DHTKD1	12188311	1.000000	0.71417	0.969000	0.41365	0.533000	0.34776	8.926000	0.92839	2.870000	0.98441	0.638000	0.83543	GAG	.		0.512	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706	
MLLT10	8028	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	21962834	21962834	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:21962834C>A	ENST00000307729.7	+	11	1785	c.1607C>A	c.(1606-1608)tCt>tAt	p.S536Y	MLLT10_ENST00000377072.3_Missense_Mutation_p.S536Y|MLLT10_ENST00000446906.2_Missense_Mutation_p.S536Y|MLLT10_ENST00000377059.3_Missense_Mutation_p.S536Y			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	536	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GTTGGCTCATCTCCAGTTGGT	0.453			T	"""MLL, PICALM, CDK6"""	AL																																p.S536Y		.		Dom	yes		10	10p12	8028	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""		L	.	MLLT10-658	0			c.C1607A						.						78.0	75.0	76.0					10																	21962834		2202	4300	6502	SO:0001583	missense	8028	exon10			GCTCATCTCCAGT	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1607C>A	10.37:g.21962834C>A	ENSP00000307411:p.Ser536Tyr	73	0		43	7	NM_001195626	0	0	0	0	0	B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	CCDS55708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.69|19.69	3.874691|3.874691	0.72180|0.72180	.|.	.|.	ENSG00000078403|ENSG00000078403	ENST00000420525|ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	.|T;T;T;T	.|0.20200	.|2.27;2.1;2.09;2.1	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.580033	.|0.19466	.|N	.|0.113562	T|T	0.45256|0.45256	0.1333|0.1333	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D;D;D	.|0.76494	.|0.999;0.998;0.99;0.998	.|D;D;D;D	.|0.83275	.|0.996;0.991;0.974;0.993	T|T	0.35251|0.35251	-0.9796|-0.9796	5|10	.|0.72032	.|D	.|0.01	.|.	18.9503|18.9503	0.92638|0.92638	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|382;536;536;536	.|F5H541;E9PBP4;Q5VX90;P55197	.|.;.;.;AF10_HUMAN	I|Y	110|536;536;536;382;536;179;178	.|ENSP00000366272:S536Y;ENSP00000401406:S536Y;ENSP00000307411:S536Y;ENSP00000366258:S536Y	.|ENSP00000307411:S536Y	L|S	+|+	1|2	0|0	MLLT10|MLLT10	22002840|22002840	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.987000|0.987000	0.75469|0.75469	6.516000|6.516000	0.73755|0.73755	2.478000|2.478000	0.83669|0.83669	0.585000|0.585000	0.79938|0.79938	CTC|TCT	.		0.453	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1		
BMI1	648	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	22618192	22618192	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:22618192G>T	ENST00000376663.3	+	10	1207	c.702G>T	c.(700-702)atG>atT	p.M234I	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.M377I	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	234					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						GTAAAAGAATGAAGATCAGTC	0.398																																					p.M377I		.											.	.	0			c.G1131T						.						50.0	50.0	50.0					10																	22618192		2203	4300	6503	SO:0001583	missense	0	exon14			AAGAATGAAGATC	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.702G>T	10.37:g.22618192G>T	ENSP00000365851:p.Met234Ile	37	0		29	8	NM_001204062	0	0	5	12	7	Q16030|Q5T8Z3|Q96F37	Missense_Mutation	SNP	ENST00000376663.3	37	CCDS7138.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199722	0.58126	.	.	ENSG00000168283	ENST00000376691;ENST00000376663;ENST00000443519	T;T	0.41065	1.59;1.01	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	L	0.29908	0.895	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.05484	-1.0882	10	0.36615	T	0.2	-15.4859	19.4021	0.94634	0.0:0.0:1.0:0.0	.	234;234	Q5U0M5;P35226	.;BMI1_HUMAN	I	146;234;139	ENSP00000365851:M234I;ENSP00000390768:M139I	ENSP00000365851:M234I	M	+	3	0	BMI1	22658198	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.588000	0.82629	2.685000	0.91497	0.650000	0.86243	ATG	.		0.398	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180	
GPR158	57512	ucsc.edu;bcgsc.ca	37	10	25839971	25839971	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:25839971G>T	ENST00000376351.3	+	6	1830	c.1471G>T	c.(1471-1473)Ggt>Tgt	p.G491C		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	491					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCGTCTTCTCGGTTTTGCTAC	0.403																																					p.G491C		.											.	GPR158-141	0			c.G1471T						.						295.0	254.0	268.0					10																	25839971		2203	4300	6503	SO:0001583	missense	57512	exon6			CTTCTCGGTTTTG	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1471G>T	10.37:g.25839971G>T	ENSP00000365529:p.Gly491Cys	167	2		131	24	NM_020752	0	0	0	0	0	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761423	0.89932	.	.	ENSG00000151025	ENST00000376351	D	0.89681	-2.55	5.47	5.47	0.80525	GPCR, family 3, C-terminal (2);	0.000000	0.64402	D	0.000001	D	0.95778	0.8626	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96120	0.9084	10	0.87932	D	0	.	19.6818	0.95967	0.0:0.0:1.0:0.0	.	491	Q5T848	GP158_HUMAN	C	491	ENSP00000365529:G491C	ENSP00000365529:G491C	G	+	1	0	GPR158	25879977	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	9.093000	0.94163	2.724000	0.93272	0.650000	0.86243	GGT	.		0.403	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
SVIL	6840	broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	29818653	29818653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:29818653C>A	ENST00000355867.4	-	12	2979	c.2227G>T	c.(2227-2229)Gag>Tag	p.E743*	SVIL_ENST00000375400.3_Nonsense_Mutation_p.E349*|SVIL_ENST00000375398.2_Nonsense_Mutation_p.E743*	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	743					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ATGACCACCTCTTCAGTGGTG	0.468																																					p.E743X		.											.	SVIL-96	0			c.G2227T						.						113.0	99.0	103.0					10																	29818653		2203	4300	6503	SO:0001587	stop_gained	6840	exon12			CCACCTCTTCAGT	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2227G>T	10.37:g.29818653C>A	ENSP00000348128:p.Glu743*	50	1		44	17	NM_021738	0	0	0	0	0	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Nonsense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	47	13.800612	0.99763	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.9095	19.571	0.95419	0.0:1.0:0.0:0.0	.	.	.	.	X	349;743;743	.	.	E	-	1	0	SVIL	29858659	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	7.354000	0.79424	2.709000	0.92574	0.655000	0.94253	GAG	.		0.468	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		
GJD4	219770	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	35897531	35897531	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:35897531G>T	ENST00000321660.1	+	2	1248	c.1090G>T	c.(1090-1092)Gcc>Tcc	p.A364S	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	364					cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCACCTGAGAGCCAGGAAGTC	0.682																																					p.A364S		.											.	GJD4-155	0			c.G1090T						.						5.0	6.0	5.0					10																	35897531		2040	4067	6107	SO:0001583	missense	219770	exon2			CTGAGAGCCAGGA	AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"""Ion channels / Gap junction proteins (connexins)"""	23296	protein-coding gene	gene with protein product	"""connexin 40.1"""	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.1090G>T	10.37:g.35897531G>T	ENSP00000315070:p.Ala364Ser	128	0		158	10	NM_153368	0	0	0	0	0	Q8N2R7	Missense_Mutation	SNP	ENST00000321660.1	37	CCDS7191.1	.	.	.	.	.	.	.	.	.	.	G	1.212	-0.629509	0.03610	.	.	ENSG00000177291	ENST00000321660	D	0.97976	-4.64	4.91	-6.12	0.02124	.	0.625324	0.14650	N	0.306644	D	0.91670	0.7367	N	0.24115	0.695	0.09310	N	1	B	0.19073	0.033	B	0.16289	0.015	T	0.82719	-0.0318	10	0.42905	T	0.14	.	7.4438	0.27198	0.1614:0.0:0.5056:0.333	.	364	Q96KN9	CXD4_HUMAN	S	364	ENSP00000315070:A364S	ENSP00000315070:A364S	A	+	1	0	GJD4	35937537	0.000000	0.05858	0.015000	0.15790	0.014000	0.08584	-1.438000	0.02416	-0.708000	0.05015	-1.130000	0.01982	GCC	.		0.682	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1	NM_153368	
BMS1	9790	broad.mit.edu	37	10	43292520	43292520	+	Nonsense_Mutation	SNP	G	G	T	rs146520651		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:43292520G>T	ENST00000374518.5	+	10	1891	c.1828G>T	c.(1828-1830)Gaa>Taa	p.E610*		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	610					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTCAGAAAATGAAGAGGCTAT	0.428																																					p.E610X		.											.	BMS1-93	0			c.G1828T						.						56.0	59.0	58.0					10																	43292520		2202	4300	6502	SO:0001587	stop_gained	9790	exon10			GAAAATGAAGAGG	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1828G>T	10.37:g.43292520G>T	ENSP00000363642:p.Glu610*	123	0		98	4	NM_014753	0	0	7	7	0	Q5QPT5|Q86XJ9	Nonsense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	g	21.7	4.192101	0.78902	.	.	ENSG00000165733	ENST00000374518	.	.	.	4.79	1.19	0.21007	.	0.456125	0.25453	N	0.030579	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	4.7783	0.13190	0.1007:0.1365:0.6217:0.1411	.	.	.	.	X	610	.	ENSP00000363642:E610X	E	+	1	0	BMS1	42612526	0.978000	0.34361	0.000000	0.03702	0.145000	0.21501	1.511000	0.35801	0.014000	0.14944	-0.282000	0.10007	GAA	G|1.000;C|0.000		0.428	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	
C10orf71	118461	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	50531426	50531426	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:50531426C>A	ENST00000374144.3	+	3	1124	c.836C>A	c.(835-837)tCa>tAa	p.S279*	C10orf71_ENST00000323868.4_Nonsense_Mutation_p.S279*			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	279										endometrium(1)	1						GCTTTTGAGTCATGGAATGCC	0.527																																					p.S279X		.											.	C10orf71-90	0			c.C836A						.						63.0	73.0	70.0					10																	50531426		2021	4198	6219	SO:0001587	stop_gained	118461	exon3			TTGAGTCATGGAA	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.836C>A	10.37:g.50531426C>A	ENSP00000363259:p.Ser279*	161	0		136	38	NM_001135196	0	0	0	0	0	A0AVL8	Nonsense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	37	6.284978	0.97440	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	.	.	.	5.4	5.4	0.78164	.	0.000000	0.41605	D	0.000841	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1656	0.93555	0.0:1.0:0.0:0.0	.	.	.	.	X	279	.	ENSP00000318713:S279X	S	+	2	0	C10orf71	50201432	0.999000	0.42202	0.978000	0.43139	0.523000	0.34469	4.482000	0.60257	2.530000	0.85305	0.561000	0.74099	TCA	.		0.527	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459	
AGAP7P	653268	bcgsc.ca	37	10	51464918	51464918	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:51464918C>A	ENST00000374095.5	-	7	1663	c.1538G>T	c.(1537-1539)gGc>gTc	p.G513V		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		513	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TAGGTCATTGCCAATAGATGA	0.562																																					p.G513V		.											.	.	0			c.G1538T						.						52.0	66.0	61.0					10																	51464918		2197	4294	6491	SO:0001583	missense	653268	exon7			TCATTGCCAATAG																												ENST00000374095.5:c.1538G>T	10.37:g.51464918C>A	ENSP00000363208:p.Gly513Val	137	0		116	16	NM_001077685	0	0	9	17	8	A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	13.12	2.142973	0.37825	.	.	ENSG00000204169	ENST00000374095	T	0.70045	-0.45	.	.	.	.	0.000000	0.85682	D	0.000000	D	0.85915	0.5808	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82526	-0.0413	9	0.66056	D	0.02	.	5.9763	0.19382	0.0:0.9994:0.0:6.0E-4	.	513	Q5VUJ5	AGAP7_HUMAN	V	513	ENSP00000363208:G513V	ENSP00000363208:G513V	G	-	2	0	AGAP7	51134924	1.000000	0.71417	0.015000	0.15790	0.016000	0.09150	5.227000	0.65305	0.172000	0.19760	0.175000	0.17021	GGC	.		0.562	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1		
DKK1	22943	broad.mit.edu	37	10	54076186	54076186	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:54076186C>A	ENST00000373970.3	+	3	677	c.538C>A	c.(538-540)Cac>Aac	p.H180N	PRKG1-AS1_ENST00000420193.1_RNA|DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	180					cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						AAAAATGTATCACACCAAAGG	0.378																																					p.H180N		.											.	DKK1-1083	0			c.C538A						.						91.0	85.0	87.0					10																	54076186		2203	4300	6503	SO:0001583	missense	22943	exon3			ATGTATCACACCA		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.538C>A	10.37:g.54076186C>A	ENSP00000363081:p.His180Asn	124	1		102	4	NM_012242	0	0	0	0	0	B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	C	9.989	1.230227	0.22542	.	.	ENSG00000107984	ENST00000373970	T	0.42131	0.98	5.09	5.09	0.68999	.	0.498801	0.21970	N	0.066474	T	0.34395	0.0896	L	0.43152	1.355	0.30807	N	0.739224	P	0.48230	0.907	B	0.44224	0.444	T	0.18524	-1.0334	10	0.16420	T	0.52	-6.3943	9.5527	0.39319	0.1568:0.6911:0.1521:0.0	.	180	O94907	DKK1_HUMAN	N	180	ENSP00000363081:H180N	ENSP00000363081:H180N	H	+	1	0	DKK1	53746192	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	3.247000	0.51422	2.756000	0.94617	0.561000	0.74099	CAC	.		0.378	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1		
ARID5B	84159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	63845627	63845627	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:63845627G>T	ENST00000279873.7	+	9	1776	c.1366G>T	c.(1366-1368)Gaa>Taa	p.E456*	ARID5B_ENST00000309334.5_Nonsense_Mutation_p.E213*	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	456					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GAAAGAAAAAGAAAATGCCCC	0.448																																					p.E456X		.											.	ARID5B-94	0			c.G1366T						.						112.0	120.0	117.0					10																	63845627		2203	4300	6503	SO:0001587	stop_gained	84159	exon9			GAAAAAGAAAATG	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1366G>T	10.37:g.63845627G>T	ENSP00000279873:p.Glu456*	29	0		18	10	NM_032199	0	0	1	3	2	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Nonsense_Mutation	SNP	ENST00000279873.7	37	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	G	42	9.692527	0.99240	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	.	.	.	5.77	5.77	0.91146	.	0.481200	0.24604	N	0.037116	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-27.28	18.5274	0.90978	0.0:0.0:1.0:0.0	.	.	.	.	X	456;213	.	ENSP00000279873:E456X	E	+	1	0	ARID5B	63515633	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.498000	0.81546	2.884000	0.98904	0.655000	0.94253	GAA	.		0.448	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482	
CDH23	64072	broad.mit.edu	37	10	73437259	73437259	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:73437259C>A	ENST00000224721.6	+	15	1581	c.1576C>A	c.(1576-1578)Ctg>Atg	p.L526M	CDH23_ENST00000299366.7_Missense_Mutation_p.L566M	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	521	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GATTGCCAGGCTGGACTATGA	0.582																																					p.L521M		.											.	CDH23-563	0			c.C1561A						.						39.0	41.0	40.0					10																	73437259		2089	4213	6302	SO:0001583	missense	64072	exon15			GCCAGGCTGGACT	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1576C>A	10.37:g.73437259C>A	ENSP00000224721:p.Leu526Met	131	1		84	6	NM_022124	0	0	2	2	0	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	C	19.54	3.847310	0.71603	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.51	4.6	0.57074	Cadherin (5);Cadherin-like (1);	0.000000	0.56097	D	0.000036	T	0.80059	0.4554	M	0.87827	2.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	T	0.82645	-0.0355	9	0.87932	D	0	.	10.8162	0.46578	0.0:0.8535:0.0:0.1465	.	521;524;521	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	M	526;521;521;524;524;38	.	ENSP00000224721:L526M	L	+	1	2	CDH23	73107265	0.980000	0.34600	0.893000	0.35052	0.904000	0.53231	2.537000	0.45702	1.306000	0.44926	0.650000	0.86243	CTG	.		0.582	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
SEC24C	9632	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	75528805	75528805	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:75528805C>A	ENST00000339365.2	+	18	2481	c.2319C>A	c.(2317-2319)agC>agA	p.S773R	SEC24C_ENST00000411652.2_Missense_Mutation_p.S654R|SEC24C_ENST00000540668.1_Missense_Mutation_p.S21R|SEC24C_ENST00000535742.1_Missense_Mutation_p.S21R|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000345254.4_Missense_Mutation_p.S773R	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	773					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TCTACATGAGCAACACGACAG	0.522																																					p.S773R		.											.	SEC24C-92	0			c.C2319A						.						98.0	86.0	90.0					10																	75528805		2203	4300	6503	SO:0001583	missense	9632	exon17			CATGAGCAACACG	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2319C>A	10.37:g.75528805C>A	ENSP00000343405:p.Ser773Arg	153	0		97	46	NM_198597	0	0	17	22	5	B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.780725	0.70222	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	5.72	4.82	0.62117	Sec23/Sec24 beta-sandwich (1);	0.071575	0.85682	D	0.000000	T	0.09992	0.0245	N	0.03209	-0.39	0.80722	D	1	B;P;P	0.36616	0.172;0.505;0.561	B;B;B	0.39805	0.061;0.147;0.31	T	0.11542	-1.0583	10	0.02654	T	1	-7.6066	14.5721	0.68218	0.0:0.9298:0.0:0.0702	.	654;773;773	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	R	21;773;21;773;654	ENSP00000446174:S21R;ENSP00000321845:S773R;ENSP00000445023:S21R;ENSP00000343405:S773R;ENSP00000402913:S654R	ENSP00000343405:S773R	S	+	3	2	SEC24C	75198811	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	2.085000	0.41634	1.425000	0.47237	0.467000	0.42956	AGC	.		0.522	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1		
KCNMA1	3778	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	78761184	78761184	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:78761184G>T	ENST00000286628.8	-	19	2246	c.2247C>A	c.(2245-2247)tgC>tgA	p.C749*	KCNMA1_ENST00000372443.1_Intron|KCNMA1_ENST00000404771.3_Nonsense_Mutation_p.C749*|KCNMA1_ENST00000354353.5_Intron|KCNMA1_ENST00000406533.3_Nonsense_Mutation_p.C753*|KCNMA1_ENST00000404857.1_Intron|KCNMA1_ENST00000372440.1_Intron|KCNMA1_ENST00000286627.5_Intron	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	749					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	AACTGGTGGAGCAATCATTAA	0.507																																					p.C749X		.											.	KCNMA1-93	0			c.C2247A						.						145.0	118.0	126.0					10																	78761184		692	1591	2283	SO:0001587	stop_gained	3778	exon19			GGTGGAGCAATCA	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2247C>A	10.37:g.78761184G>T	ENSP00000286628:p.Cys749*	208	2		152	19	NM_001161352	0	0	0	0	0	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Nonsense_Mutation	SNP	ENST00000286628.8	37		.	.	.	.	.	.	.	.	.	.	G	39	7.290932	0.98189	.	.	ENSG00000156113	ENST00000372437;ENST00000457953;ENST00000404771;ENST00000286628;ENST00000406533	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-12.541	20.3539	0.98825	0.0:0.0:1.0:0.0	.	.	.	.	X	684;723;686;723;753	.	ENSP00000286628:C723X	C	-	3	2	KCNMA1	78431190	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	TGC	.		0.507	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	
CYP2C9	1559	bcgsc.ca	37	10	96748656	96748656	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:96748656C>A	ENST00000260682.6	+	9	1356	c.1344C>A	c.(1342-1344)ttC>ttA	p.F448L		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	448					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGTTTTTATTCCTGACCTCCA	0.473																																					p.F448L	Ovarian(54;1266 1406 16072 35076)	.											.	CYP2C9-96	0			c.C1344A						.						159.0	149.0	153.0					10																	96748656		2203	4300	6503	SO:0001583	missense	1559	exon9			TTTATTCCTGACC	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1344C>A	10.37:g.96748656C>A	ENSP00000260682:p.Phe448Leu	141	4		96	46	NM_000771	0	0	0	0	0	P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	6.828	0.521979	0.13005	.	.	ENSG00000138109	ENST00000260682	T	0.68765	-0.35	3.42	0.48	0.16804	.	0.073236	0.56097	U	0.000039	T	0.56124	0.1964	L	0.48642	1.525	0.28002	N	0.935233	B;B	0.33280	0.405;0.405	B;B	0.37692	0.256;0.256	T	0.50833	-0.8781	10	0.42905	T	0.14	.	7.1583	0.25649	0.0:0.6589:0.0:0.3411	.	448;448	Q5VX92;P11712	.;CP2C9_HUMAN	L	448	ENSP00000260682:F448L	ENSP00000260682:F448L	F	+	3	2	CYP2C9	96738646	0.007000	0.16637	0.997000	0.53966	0.044000	0.14063	-0.094000	0.11094	0.284000	0.22305	-0.373000	0.07131	TTC	.		0.473	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771	
RRP12	23223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	99126277	99126277	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:99126277C>A	ENST00000370992.4	-	28	3428	c.3317G>T	c.(3316-3318)cGg>cTg	p.R1106L	RRP12_ENST00000536831.1_Missense_Mutation_p.R824L|RRP12_ENST00000315563.6_Missense_Mutation_p.R1006L|RRP12_ENST00000414986.1_Missense_Mutation_p.R1045L|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1106						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CAGCCATGCCCGGCTCCTCTG	0.602																																					p.R1106L		.											.	RRP12-92	0			c.G3317T						.						105.0	100.0	102.0					10																	99126277		2203	4300	6503	SO:0001583	missense	23223	exon28			CATGCCCGGCTCC		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3317G>T	10.37:g.99126277C>A	ENSP00000360031:p.Arg1106Leu	75	0		58	10	NM_015179	0	0	56	60	4	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	C	8.620	0.891263	0.17613	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.31510	1.5;1.5;1.49;1.49	5.2	0.816	0.18768	.	0.393546	0.29093	N	0.013167	T	0.20700	0.0498	L	0.44542	1.39	0.27288	N	0.957926	P;B;P;B	0.38455	0.61;0.218;0.632;0.098	B;B;B;B	0.31442	0.082;0.052;0.13;0.038	T	0.08680	-1.0710	10	0.30078	T	0.28	-5.6395	11.0801	0.48055	0.0:0.5053:0.0:0.4947	.	1045;1006;824;1106	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	L	1106;1006;1045;824	ENSP00000360031:R1106L;ENSP00000324315:R1006L;ENSP00000414863:R1045L;ENSP00000446184:R824L	ENSP00000324315:R1006L	R	-	2	0	RRP12	99116267	0.243000	0.23878	0.054000	0.19295	0.246000	0.25737	0.297000	0.19101	-0.395000	0.07715	-2.303000	0.00259	CGG	.		0.602	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179	
NFKB2	4791	hgsc.bcm.edu	37	10	104159196	104159196	+	Silent	SNP	A	A	G	rs4919633	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:104159196A>G	ENST00000369966.3	+	13	1519	c.1269A>G	c.(1267-1269)ccA>ccG	p.P423P	NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000428099.1_Silent_p.P423P|NFKB2_ENST00000189444.6_Silent_p.P423P	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	423					extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CCGCGGAGCCAAGCGCCCCCT	0.786			T	IGH@	B-NHL								G|||	4942	0.986821	0.9539	0.9942	5008	,	,		10589	1.0		0.999	False		,,,				2504	1.0				p.P423P		.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2-522	0			c.A1269G						.	G	,,	2876,76		1401,74,1	3.0	5.0	4.0		1269,1269,1269	-4.9	0.0	10	dbSNP_111	4	6622,2		3310,2,0	no	coding-synonymous,coding-synonymous,coding-synonymous	NFKB2	NM_001077493.1,NM_001077494.1,NM_002502.3	,,	4711,76,1	GG,GA,AA		0.0302,2.5745,0.8145	,,	423/900,423/901,423/900	104159196	9498,78	1476	3312	4788	SO:0001819	synonymous_variant	4791	exon13			GGAGCCAAGCGCC	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.1269A>G	10.37:g.104159196A>G		0	0		4	4	NM_001077494	0	0	0	9	9	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	CCDS41564.1																																																																																			A|0.009;G|0.991		0.786	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2		
AS3MT	57412	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	104638614	104638614	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:104638614C>A	ENST00000369880.3	+	9	828	c.751C>A	c.(751-753)Cgt>Agt	p.R251S	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	251					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		AGGTGACTGTCGTTTTGTTTC	0.413																																					p.R251S		.											.	AS3MT-44	0			c.C751A						.						140.0	128.0	132.0					10																	104638614		1908	4132	6040	SO:0001583	missense	57412	exon9			GACTGTCGTTTTG	AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"""arsenic (+3 oxidation state) methyltransferase"""			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.751C>A	10.37:g.104638614C>A	ENSP00000358896:p.Arg251Ser	128	0		96	17	NM_020682	0	0	15	20	5	A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Missense_Mutation	SNP	ENST00000369880.3	37	CCDS41567.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613357	0.28712	.	.	ENSG00000214435	ENST00000369880	T	0.21361	2.01	5.48	3.65	0.41850	.	0.256445	0.39083	N	0.001468	T	0.17066	0.0410	L	0.55213	1.73	0.32263	N	0.5698449999999999	B;B;B	0.25850	0.134;0.136;0.136	B;B;B	0.20955	0.022;0.032;0.018	T	0.15350	-1.0440	9	0.26408	T	0.33	-3.6395	6.3165	0.21194	0.1474:0.6969:0.0:0.1558	.	251;251;251	Q0VDK3;Q9HBK9;Q0VDK4	.;AS3MT_HUMAN;.	S	251	ENSP00000358896:R251S	ENSP00000358896:R251S	R	+	1	0	AS3MT	104628604	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.632000	0.37102	0.691000	0.31592	-0.254000	0.11334	CGT	.		0.413	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050107.1	NM_020682	
CCDC172	374355	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	118101581	118101581	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:118101581G>T	ENST00000333254.3	+	5	567	c.316G>T	c.(316-318)Gac>Tac	p.D106Y	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	106																	AGAGGAGGAAGACAAATTTAT	0.244																																					p.D106Y		.											.	.	0			c.G316T						.						31.0	36.0	34.0					10																	118101581		2155	4243	6398	SO:0001583	missense	374355	exon5			GAGGAAGACAAAT	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.316G>T	10.37:g.118101581G>T	ENSP00000329860:p.Asp106Tyr	88	0		92	7	NM_198515	0	0	0	0	0		Missense_Mutation	SNP	ENST00000333254.3	37	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628105	0.46944	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.41	4.44	0.53790	.	0.669254	0.15789	N	0.244558	T	0.48114	0.1482	N	0.14661	0.345	0.39041	D	0.960139	P	0.52692	0.955	P	0.51135	0.66	T	0.57929	-0.7726	9	0.87932	D	0	-20.576	15.9176	0.79535	0.0:0.1352:0.8648:0.0	.	106	P0C7W6	CJ096_HUMAN	Y	106	.	ENSP00000329860:D106Y	D	+	1	0	C10orf96	118091571	1.000000	0.71417	0.998000	0.56505	0.237000	0.25408	3.198000	0.51035	2.699000	0.92147	0.655000	0.94253	GAC	.		0.244	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515	
TACC2	10579	ucsc.edu;bcgsc.ca;mdanderson.org	37	10	123846988	123846988	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:123846988G>T	ENST00000369005.1	+	4	5313	c.4973G>T	c.(4972-4974)gGt>gTt	p.G1658V	TACC2_ENST00000515603.1_Missense_Mutation_p.G1658V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.G1658V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.G1658V|TACC2_ENST00000334433.3_Missense_Mutation_p.G1658V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1658					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACGCTTGGGGGTGAAAGGAGA	0.592																																					p.G1658V		.											.	TACC2-296	0			c.G4973T						.						59.0	57.0	58.0					10																	123846988		2203	4300	6503	SO:0001583	missense	10579	exon4			TTGGGGGTGAAAG	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.4973G>T	10.37:g.123846988G>T	ENSP00000358001:p.Gly1658Val	216	2		165	35	NM_206862	0	0	0	0	0	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747497	0.30955	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.15834	3.67;2.39;3.55;3.67;2.39	4.96	0.716	0.18191	.	0.479278	0.15706	N	0.248668	T	0.08714	0.0216	L	0.27053	0.805	0.21527	N	0.999653	P;P;P	0.44877	0.845;0.845;0.845	B;B;B	0.36719	0.231;0.231;0.231	T	0.23726	-1.0180	10	0.87932	D	0	-0.094	3.0737	0.06239	0.4154:0.2228:0.3618:0.0	.	1658;1658;1658	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	V	1658;1658;1658;1658;1658;1648	ENSP00000358001:G1658V;ENSP00000424467:G1658V;ENSP00000427618:G1658V;ENSP00000334280:G1658V;ENSP00000395048:G1658V	ENSP00000334280:G1658V	G	+	2	0	TACC2	123836978	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	0.117000	0.15583	0.221000	0.20879	0.643000	0.83706	GGT	.		0.592	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		
MKI67	4288	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	129903482	129903482	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:129903482C>A	ENST00000368654.3	-	13	6997	c.6622G>T	c.(6622-6624)Gac>Tac	p.D2208Y	MKI67_ENST00000368653.3_Missense_Mutation_p.D1848Y	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2208	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTGGGCTTGTCAGTGCATATT	0.502																																					p.D2208Y		.											.	MKI67-519	0			c.G6622T						.						228.0	219.0	222.0					10																	129903482		2203	4300	6503	SO:0001583	missense	4288	exon13			GCTTGTCAGTGCA	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6622G>T	10.37:g.129903482C>A	ENSP00000357643:p.Asp2208Tyr	149	1		158	68	NM_002417	0	0	2	6	4	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067137	0.36470	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01369	4.99;4.97	3.23	-6.46	0.01908	.	2.310800	0.01830	N	0.034621	T	0.04861	0.0131	M	0.62723	1.935	0.09310	N	1	D;D;D	0.71674	0.976;0.998;0.99	P;D;P	0.64877	0.534;0.93;0.804	T	0.34254	-0.9836	10	0.62326	D	0.03	.	5.5411	0.17038	0.0:0.2719:0.3958:0.3323	.	2207;1848;2208	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Y	2208;1848;2207	ENSP00000357643:D2208Y;ENSP00000357642:D1848Y	ENSP00000357642:D1848Y	D	-	1	0	MKI67	129793472	0.204000	0.23447	0.000000	0.03702	0.008000	0.06430	0.783000	0.26802	-1.863000	0.01150	0.561000	0.74099	GAC	.		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
MTG1	92170	hgsc.bcm.edu	37	10	135207754	135207754	+	Missense_Mutation	SNP	C	C	G	rs374714619	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:135207754C>G	ENST00000317502.6	+	1	80	c.30C>G	c.(28-30)agC>agG	p.S10R	MTG1_ENST00000477902.2_Intron|RP11-108K14.8_ENST00000468317.2_Intron	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	10					GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		CGCTGTGCAGCGCCGCCCAGG	0.736													c|||	8	0.00159744	0.0008	0.0014	5008	,	,		12458	0.0		0.001	False		,,,				2504	0.0051				p.S10R		.											.	MTG1-91	0			c.C30G						.																																			SO:0001583	missense	92170	exon1			GTGCAGCGCCGCC		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.30C>G	10.37:g.135207754C>G	ENSP00000323047:p.Ser10Arg	1	0		32	29	NM_138384	0	0	0	18	18	Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	CCDS31320.1	.	.	.	.	.	.	.	.	.	.	c	12.66	2.003780	0.35320	.	.	ENSG00000148824	ENST00000317502;ENST00000432508	T;T	0.46063	1.51;0.88	5.01	-0.646	0.11472	.	2.627820	0.01523	N	0.018456	T	0.23249	0.0562	N	0.14661	0.345	0.19300	N	0.99997	P	0.39847	0.691	B	0.32624	0.149	T	0.22312	-1.0220	10	0.66056	D	0.02	-16.7364	3.6892	0.08339	0.1691:0.4231:0.0:0.4078	.	10	Q9BT17	MTG1_HUMAN	R	10	ENSP00000323047:S10R;ENSP00000393480:S10R	ENSP00000323047:S10R	S	+	3	2	AL360181.1	135057744	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.139000	0.10358	0.145000	0.18977	0.563000	0.77884	AGC	.		0.736	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384	
MUC5B	727897	bcgsc.ca	37	11	1262202	1262202	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:1262202G>T	ENST00000529681.1	+	31	4150	c.4092G>T	c.(4090-4092)ctG>ctT	p.L1364L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.L1367L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1364	7 X Cys-rich subdomain repeats.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TTGAAAACCTGAGGCAGAGAG	0.662																																					p.L1364L		.											.	.	0			c.G4092T						.						40.0	48.0	46.0					11																	1262202		2073	4195	6268	SO:0001819	synonymous_variant	727897	exon31			AAACCTGAGGCAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.4092G>T	11.37:g.1262202G>T		92	2		102	24	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			.		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
OR51G1	79324	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	4945010	4945010	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:4945010A>G	ENST00000321961.2	-	1	627	c.560T>C	c.(559-561)aTg>aCg	p.M187T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCAGCTTCATGATCTCCAG	0.522																																					p.M187T		.											.	OR51G1-70	0			c.T560C						.						93.0	82.0	86.0					11																	4945010		2201	4298	6499	SO:0001583	missense	79324	exon1			AGCTTCATGATCT	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.560T>C	11.37:g.4945010A>G	ENSP00000322546:p.Met187Thr	85	0		89	15	NM_001005237	0	0	0	0	0	B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.241987	0.39598	.	.	ENSG00000176879	ENST00000321961	T	0.00099	8.73	4.41	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	U	0.000218	T	0.00384	0.0012	M	0.70108	2.13	0.24888	N	0.992186	D	0.76494	0.999	D	0.76575	0.988	T	0.40175	-0.9577	10	0.87932	D	0	.	8.6867	0.34243	0.9073:0.0:0.0927:0.0	.	187	Q8NGK1	O51G1_HUMAN	T	187	ENSP00000322546:M187T	ENSP00000322546:M187T	M	-	2	0	OR51G1	4901586	0.036000	0.19791	1.000000	0.80357	0.779000	0.44077	2.640000	0.46579	0.736000	0.32559	0.455000	0.32223	ATG	.		0.522	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237	
OR51B2	79345	bcgsc.ca	37	11	5345495	5345495	+	Missense_Mutation	SNP	C	C	A	rs375227790	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:5345495C>A	ENST00000328813.2	-	1	87	c.33G>T	c.(31-33)ttG>ttT	p.L11F	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCCAGTCAGCAAAAAAGGGG	0.493											OREG0003719	type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.L11F		.											.	OR51B2-71	0			c.G33T						.						43.0	41.0	42.0					11																	5345495		2198	4297	6495	SO:0001583	missense	79345	exon1			AGTCAGCAAAAAA	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.33G>T	11.37:g.5345495C>A	ENSP00000327540:p.Leu11Phe	314	3	625	262	13	NM_033180	0	0	0	0	0	Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839975	0.32513	.	.	ENSG00000184881	ENST00000328813	T	0.00342	8.03	4.39	3.39	0.38822	.	1.096590	0.07388	U	0.888646	T	0.00468	0.0015	L	0.51422	1.61	0.80722	D	1	D	0.62365	0.991	P	0.61592	0.891	T	0.80379	-0.1407	10	0.26408	T	0.33	.	6.6331	0.22867	0.3167:0.5281:0.1552:0.0	.	11	Q9Y5P1	O51B2_HUMAN	F	11	ENSP00000327540:L11F	ENSP00000327540:L11F	L	-	3	2	OR51B2	5302071	0.000000	0.05858	0.994000	0.49952	0.409000	0.31022	-0.670000	0.05256	2.310000	0.77875	0.644000	0.83932	TTG	.		0.493	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180	
OR51I2	390064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	5475467	5475467	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:5475467C>A	ENST00000341449.2	+	1	830	c.749C>A	c.(748-750)gCa>gAa	p.A250E	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	250					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGTACTTGCATTTTATGTG	0.483																																					p.A250E		.											.	OR51I2-72	0			c.C749A						.						240.0	203.0	216.0					11																	5475467		2201	4297	6498	SO:0001583	missense	390064	exon1			TACTTGCATTTTA	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.749C>A	11.37:g.5475467C>A	ENSP00000341987:p.Ala250Glu	175	0		129	20	NM_001004754	0	0	0	0	0	Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355405	0.24512	.	.	ENSG00000187918	ENST00000341449	T	0.00169	8.63	5.58	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.322776	0.26665	N	0.023130	T	0.00241	0.0007	L	0.39566	1.225	0.09310	N	1	P	0.46512	0.879	P	0.52758	0.708	T	0.49341	-0.8950	10	0.72032	D	0.01	.	8.2141	0.31501	0.0:0.5519:0.0:0.4481	.	250	Q9H344	O51I2_HUMAN	E	250	ENSP00000341987:A250E	ENSP00000341987:A250E	A	+	2	0	OR51I2	5432043	0.000000	0.05858	0.213000	0.23690	0.003000	0.03518	-0.582000	0.05814	0.480000	0.27534	-0.140000	0.14226	GCA	.		0.483	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754	
UBQLN3	50613	broad.mit.edu;bcgsc.ca	37	11	5530029	5530029	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:5530029G>T	ENST00000311659.4	-	2	907	c.760C>A	c.(760-762)Ctt>Att	p.L254I	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	254										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAGTGCAAAGCACATTGTAG	0.498																																					p.L254I	Ovarian(72;684 1260 12332 41642 52180)	.											.	UBQLN3-93	0			c.C760A						.						103.0	94.0	97.0					11																	5530029		2201	4297	6498	SO:0001583	missense	50613	exon2			TGCAAAGCACATT	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.760C>A	11.37:g.5530029G>T	ENSP00000347997:p.Leu254Ile	99	0		102	5	NM_017481	0	0	0	0	0	Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	g	14.21	2.468436	0.43839	.	.	ENSG00000175520	ENST00000311659	T	0.55234	0.53	5.63	4.7	0.59300	.	0.000000	0.36338	N	0.002656	T	0.63977	0.2557	M	0.93328	3.405	0.33935	D	0.642547	P	0.39376	0.67	B	0.41723	0.365	T	0.79152	-0.1921	10	0.87932	D	0	-16.2205	9.1568	0.36998	0.1629:0.0:0.837:0.0	.	254	Q9H347	UBQL3_HUMAN	I	254	ENSP00000347997:L254I	ENSP00000347997:L254I	L	-	1	0	UBQLN3	5486605	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	3.566000	0.53805	2.804000	0.96469	0.586000	0.80456	CTT	.		0.498	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481	
PDE3B	5140	broad.mit.edu;bcgsc.ca	37	11	14865507	14865507	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:14865507G>T	ENST00000282096.4	+	12	2808	c.2455G>T	c.(2455-2457)Gcc>Tcc	p.A819S	PDE3B_ENST00000455098.2_Missense_Mutation_p.A768S	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	819	Catalytic. {ECO:0000250}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	CGTGGCAGCTGCCATGCATGA	0.408																																					p.A819S		.											.	PDE3B-90	0			c.G2455T						.						150.0	142.0	145.0					11																	14865507		2200	4294	6494	SO:0001583	missense	5140	exon12			GCAGCTGCCATGC	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.2455G>T	11.37:g.14865507G>T	ENSP00000282096:p.Ala819Ser	92	2		80	71	NM_000922	0	0	0	0	0	B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278067	0.95459	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.78364	-1.17;-1.17	5.83	5.83	0.93111	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.90913	0.7144	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.91763	0.5421	10	0.72032	D	0.01	.	20.1374	0.98035	0.0:0.0:1.0:0.0	.	768;819	B7ZM37;Q13370	.;PDE3B_HUMAN	S	819;768	ENSP00000282096:A819S;ENSP00000388644:A768S	ENSP00000282096:A819S	A	+	1	0	PDE3B	14822083	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.763000	0.94921	0.563000	0.77884	GCC	.		0.408	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922	
SPTY2D1	144108	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	18636678	18636678	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:18636678C>A	ENST00000336349.5	-	3	1378	c.1143G>T	c.(1141-1143)caG>caT	p.Q381H	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	381	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CTGTGCTGGGCTGCCCAGGGG	0.617																																					p.Q381H		.											.	SPTY2D1-90	0			c.G1143T						.						72.0	78.0	76.0					11																	18636678		2199	4293	6492	SO:0001583	missense	144108	exon3			GCTGGGCTGCCCA	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1143G>T	11.37:g.18636678C>A	ENSP00000337991:p.Gln381His	110	1		76	14	NM_194285	0	0	4	4	0	Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	C	4.216	0.038833	0.08148	.	.	ENSG00000179119	ENST00000336349	T	0.25250	1.81	5.43	-0.0437	0.13858	.	0.618730	0.16463	N	0.213312	T	0.10594	0.0259	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.19549	-1.0302	10	0.44086	T	0.13	1.0109	0.134	0.00077	0.2419:0.2119:0.237:0.3092	.	381	Q68D10	SPT2_HUMAN	H	381	ENSP00000337991:Q381H	ENSP00000337991:Q381H	Q	-	3	2	SPTY2D1	18593254	0.004000	0.15560	0.022000	0.16811	0.596000	0.36781	-0.699000	0.05087	-0.149000	0.11215	0.563000	0.77884	CAG	.		0.617	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285	
NELL1	4745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	20907034	20907034	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:20907034C>A	ENST00000357134.5	+	5	703	c.551C>A	c.(550-552)cCa>cAa	p.P184Q	NELL1_ENST00000325319.5_Missense_Mutation_p.P127Q|NELL1_ENST00000532434.1_Missense_Mutation_p.P184Q|NELL1_ENST00000298925.5_Missense_Mutation_p.P212Q	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	184	Laminin G-like.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AACCTTCCCCCAGGAATCAAT	0.418																																					p.P184Q		.											.	NELL1-155	0			c.C551A						.						109.0	103.0	105.0					11																	20907034		2203	4300	6503	SO:0001583	missense	4745	exon5			TTCCCCCAGGAAT	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.551C>A	11.37:g.20907034C>A	ENSP00000349654:p.Pro184Gln	81	0		77	35	NM_006157	0	0	1	1	0	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061369	0.55432	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.77358	-1.08;-1.08;-1.09;-1.08	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.059323	0.64402	D	0.000002	D	0.85758	0.5771	M	0.61703	1.905	0.52501	D	0.99995	P;D;B;P	0.89917	0.801;1.0;0.214;0.57	P;D;B;B	0.91635	0.48;0.999;0.161;0.29	T	0.80957	-0.1150	10	0.13470	T	0.59	-7.7714	19.0132	0.92882	0.0:1.0:0.0:0.0	.	127;212;184;184	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	Q	212;184;127;184	ENSP00000298925:P212Q;ENSP00000349654:P184Q;ENSP00000317837:P127Q;ENSP00000437170:P184Q	ENSP00000298925:P212Q	P	+	2	0	NELL1	20863610	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.522000	0.53480	2.574000	0.86865	0.655000	0.94253	CCA	.		0.418	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157	
LUZP2	338645	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	24784833	24784833	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:24784833G>A	ENST00000336930.6	+	5	441	c.375G>A	c.(373-375)atG>atA	p.M125I	LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_Missense_Mutation_p.M39I			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	125						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGAGCAAAATGATCCGAGACC	0.289																																					p.M125I		.											.	LUZP2-92	0			c.G375A						.						43.0	48.0	46.0					11																	24784833		2201	4273	6474	SO:0001583	missense	338645	exon5			CAAAATGATCCGA	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.375G>A	11.37:g.24784833G>A	ENSP00000336817:p.Met125Ile	186	1		134	24	NM_001252010	0	0	0	0	0	A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.514896	0.27123	.	.	ENSG00000187398	ENST00000336930;ENST00000529015;ENST00000533227	T;T;T	0.21734	1.99;2.02;2.02	4.51	4.51	0.55191	.	0.242463	0.42821	D	0.000643	T	0.29783	0.0744	L	0.33485	1.01	0.30492	N	0.771283	D;B	0.61080	0.989;0.22	D;B	0.70487	0.969;0.062	T	0.03887	-1.0995	10	0.11182	T	0.66	-16.9481	13.0682	0.59046	0.0:0.0:1.0:0.0	.	39;125	E9PN53;Q86TE4	.;LUZP2_HUMAN	I	125;125;39	ENSP00000336817:M125I;ENSP00000437032:M125I;ENSP00000432952:M39I	ENSP00000336817:M125I	M	+	3	0	LUZP2	24741409	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.536000	0.45693	2.189000	0.69895	0.585000	0.79938	ATG	.		0.289	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909	
DCDC1	341019	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	30930510	30930510	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:30930510C>A	ENST00000597505.1	-	27	3900	c.3901G>T	c.(3901-3903)Gaa>Taa	p.E1301*	DCDC1_ENST00000339794.5_Nonsense_Mutation_p.E380*|DCDC1_ENST00000406071.2_Nonsense_Mutation_p.E36*			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCAATGTTTTCTTCTTTAATC	0.323																																					p.E408X		.											.	DCDC5-23	0			c.G1222T						.						96.0	92.0	93.0					11																	30930510		2202	4299	6501	SO:0001587	stop_gained	100506627	exon10			TGTTTTCTTCTTT	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.3901G>T	11.37:g.30930510C>A	ENSP00000472625:p.Glu1301*	66	0		88	11	NM_020869	0	0	0	0	0	A6PVL6|B7WNX6|Q6ZU04	Nonsense_Mutation	SNP	ENST00000597505.1	37		.	.	.	.	.	.	.	.	.	.	C	16.78	3.218195	0.58560	.	.	ENSG00000170959	ENST00000406071;ENST00000339794	.	.	.	5.16	0.955	0.19602	.	0.214566	0.32258	N	0.006350	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.1867	7.733	0.28797	0.0:0.6206:0.0:0.3794	.	.	.	.	X	36;380	.	ENSP00000341700:E380X	E	-	1	0	DCDC5	30887086	0.587000	0.26791	0.000000	0.03702	0.283000	0.27025	1.873000	0.39558	-0.017000	0.14103	-0.150000	0.13652	GAA	.		0.323	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807	
CCDC73	493860	broad.mit.edu;ucsc.edu;mdanderson.org	37	11	32739646	32739646	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:32739646C>A	ENST00000335185.5	-	3	226	c.183G>T	c.(181-183)gaG>gaT	p.E61D	CCDC73_ENST00000531481.1_Missense_Mutation_p.E61D|CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	61										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GTTCCTGTGTCTCCACAATAA	0.358																																					p.M61I		.											.	CCDC73-91	0			c.G183T						.						164.0	166.0	166.0					11																	32739646		1848	4088	5936	SO:0001583	missense	493860	exon3			CTGTGTCTCCACA	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.183G>T	11.37:g.32739646C>A	ENSP00000335325:p.Glu61Asp	11	0		10	7	NM_001008391	0	0	0	0	0	Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555946	0.65425	.	.	ENSG00000186714	ENST00000335185;ENST00000531481	.	.	.	5.61	0.941	0.19519	.	.	.	.	.	T	0.52370	0.1730	L	0.50333	1.59	0.22982	N	0.998478	D;D;D	0.89917	0.996;0.999;1.0	D;D;D	0.83275	0.986;0.994;0.996	T	0.32851	-0.9891	8	0.51188	T	0.08	.	6.4192	0.21734	0.0:0.5196:0.0:0.4804	.	61;61;61	A6H8Y7;Q6ZRK6-2;Q6ZRK6	.;.;CCD73_HUMAN	D	61	.	ENSP00000335325:E61D	E	-	3	2	CCDC73	32696222	0.628000	0.27138	0.796000	0.32109	0.794000	0.44872	0.427000	0.21379	0.359000	0.24239	0.655000	0.94253	GAG	.		0.358	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391	
RAG1	5896	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	36597790	36597790	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:36597790C>A	ENST00000299440.5	+	2	3048	c.2936C>A	c.(2935-2937)gCc>gAc	p.A979D		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	979					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AAAATGAATGCCAGGCAGTCC	0.448									Familial Hemophagocytic Lymphohistiocytosis																												p.A979D	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	.											.	RAG1-230	0			c.C2936A						.						95.0	99.0	98.0					11																	36597790		2202	4298	6500	SO:0001583	missense	5896	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	TGAATGCCAGGCA	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2936C>A	11.37:g.36597790C>A	ENSP00000299440:p.Ala979Asp	57	0		41	37	NM_000448	0	0	0	0	0	E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114721	0.77210	.	.	ENSG00000166349	ENST00000299440	T	0.78003	-1.14	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.86598	0.5971	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.84484	0.0607	9	.	.	.	.	20.1028	0.97881	0.0:1.0:0.0:0.0	.	979	P15918	RAG1_HUMAN	D	979	ENSP00000299440:A979D	.	A	+	2	0	RAG1	36554366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.827000	0.97445	0.644000	0.83932	GCC	.		0.448	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448	
DGKZ	8525	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	11	46397072	46397072	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:46397072G>T	ENST00000454345.1	+	21	2490	c.2365G>T	c.(2365-2367)Gat>Tat	p.D789Y	DGKZ_ENST00000532868.2_Missense_Mutation_p.D605Y|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000421244.2_Missense_Mutation_p.D601Y|DGKZ_ENST00000527911.1_Missense_Mutation_p.D601Y|DGKZ_ENST00000343674.6_Missense_Mutation_p.D617Y|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000395574.3_Missense_Mutation_p.D567Y|DGKZ_ENST00000528615.1_Missense_Mutation_p.D379Y|DGKZ_ENST00000456247.2_Missense_Mutation_p.D600Y|DGKZ_ENST00000318201.8_Missense_Mutation_p.D578Y	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	789					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GGTGCAGGTGGATGGCGAGCC	0.706																																					p.D789Y		.											.	DGKZ-676	0			c.G2365T						.						26.0	27.0	27.0					11																	46397072		2188	4288	6476	SO:0001583	missense	8525	exon21			CAGGTGGATGGCG	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2365G>T	11.37:g.46397072G>T	ENSP00000412178:p.Asp789Tyr	25	0		93	48	NM_001105540	0	0	2	6	4	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.402312|4.402312	0.83230|0.83230	.|.	.|.	ENSG00000149091|ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345|ENST00000524869	D;D;D;D;D;D;D;D;D|.	0.84660|.	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88|.	4.19|4.19	4.19|4.19	0.49359|0.49359	Diacylglycerol kinase, accessory domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86628|0.86628	0.5978|0.5978	H|H	0.95004|0.95004	3.61|3.61	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D|.	0.97110|.	1.0;0.999;0.998;0.999;1.0;0.999;0.997;0.998;1.0|.	D|D	0.90937|0.90937	0.4794|0.4794	10|5	0.87932|.	D|.	0|.	.|.	17.0913|17.0913	0.86623|0.86623	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	578;566;544;601;789;600;601;567;617|.	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7|.	.;.;.;.;DGKZ_HUMAN;.;.;.;.|.	Y|C	617;379;567;566;601;600;601;578;789|155	ENSP00000343065:D617Y;ENSP00000434719:D379Y;ENSP00000378941:D567Y;ENSP00000436273:D566Y;ENSP00000436291:D601Y;ENSP00000395684:D600Y;ENSP00000391021:D601Y;ENSP00000320340:D578Y;ENSP00000412178:D789Y|.	ENSP00000320340:D578Y|.	D|W	+|+	1|3	0|0	DGKZ|DGKZ	46353648|46353648	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.653000|0.653000	0.38743|0.38743	9.297000|9.297000	0.96120|0.96120	2.350000|2.350000	0.79820|0.79820	0.462000|0.462000	0.41574|0.41574	GAT|TGG	.		0.706	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540	
OR4X2	119764	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	48267186	48267186	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:48267186C>A	ENST00000302329.3	+	1	579	c.531C>A	c.(529-531)ctC>ctA	p.L177L		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TTCCCCTTCTCAAACTTGCCT	0.478																																					p.L177L		.											.	OR4X2-68	0			c.C531A						.						282.0	256.0	265.0					11																	48267186		2201	4298	6499	SO:0001819	synonymous_variant	119764	exon1			CCTTCTCAAACTT	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.531C>A	11.37:g.48267186C>A		121	0		70	37	NM_001004727	0	0	0	0	0	B2RNK3|Q6IF73|Q96R63	Silent	SNP	ENST00000302329.3	37	CCDS31486.1																																																																																			.		0.478	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727	
OR4A16	81327	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	55110948	55110948	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:55110948C>T	ENST00000314721.2	+	1	322	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCGCTATTTCCTTGTCAGCT	0.438																																					p.S91F		.											.	OR4A16-69	0			c.C272T						.						210.0	191.0	198.0					11																	55110948		2201	4296	6497	SO:0001583	missense	81327	exon1			CTATTTCCTTGTC	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.272C>T	11.37:g.55110948C>T	ENSP00000325128:p.Ser91Phe	138	1		85	13	NM_001005274	0	0	0	0	0	Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	c	9.787	1.176825	0.21704	.	.	ENSG00000181961	ENST00000314721	T	0.01335	5.0	2.57	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.05181	0.0138	M	0.92880	3.355	0.28293	N	0.923464	B	0.28082	0.2	B	0.33620	0.167	T	0.01337	-1.1381	9	0.72032	D	0.01	.	10.8399	0.46708	0.0:1.0:0.0:0.0	.	91	Q8NH70	O4A16_HUMAN	F	91	ENSP00000325128:S91F	ENSP00000325128:S91F	S	+	2	0	OR4A16	54867524	0.977000	0.34250	0.095000	0.20976	0.050000	0.14768	4.673000	0.61604	1.445000	0.47624	0.423000	0.28283	TCC	.		0.438	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274	
OR5M10	390167	broad.mit.edu;bcgsc.ca	37	11	56344908	56344908	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:56344908C>A	ENST00000526812.2	-	1	355	c.290G>T	c.(289-291)tGc>tTc	p.C97F		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						CTGTGTGAAGCATCCAGCGTA	0.443																																					p.C97F		.											.	.	0			c.G290T						.						147.0	137.0	140.0					11																	56344908		1959	4150	6109	SO:0001583	missense	390167	exon1			GTGAAGCATCCAG	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.290G>T	11.37:g.56344908C>A	ENSP00000436004:p.Cys97Phe	274	1		181	9	NM_001004741	0	0	0	0	0	B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434089	0.43224	.	.	ENSG00000254834	ENST00000526812	T	0.16897	2.31	4.04	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42063	0.1186	H	0.99391	4.545	0.58432	D	0.999998	P	0.37525	0.598	B	0.34301	0.179	T	0.67891	-0.5553	9	0.87932	D	0	.	15.3464	0.74340	0.0:1.0:0.0:0.0	.	97	Q6IEU7	OR5MA_HUMAN	F	97	ENSP00000436004:C97F	ENSP00000436004:C97F	C	-	2	0	OR5M10	56101484	1.000000	0.71417	0.157000	0.22605	0.015000	0.08874	5.524000	0.67105	2.238000	0.73509	0.632000	0.83419	TGC	.		0.443	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741	
TNKS1BP1	85456	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	57087809	57087809	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:57087809C>A	ENST00000532437.1	-	2	783	c.472G>T	c.(472-474)Gcc>Tcc	p.A158S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A158S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	158	Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ACCGTGGTGGCCGCGAAGCGC	0.667																																					p.A158S		.											.	TNKS1BP1-91	0			c.G472T						.						53.0	60.0	58.0					11																	57087809		2201	4296	6497	SO:0001583	missense	85456	exon3			TGGTGGCCGCGAA	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.472G>T	11.37:g.57087809C>A	ENSP00000437271:p.Ala158Ser	59	0		60	28	NM_033396	0	0	9	17	8	A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196394	0.58126	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.36520	1.25;1.25	4.37	2.32	0.28847	.	0.000000	0.33515	N	0.004833	T	0.20414	0.0491	N	0.19112	0.55	0.09310	N	1	P	0.36909	0.573	B	0.35182	0.197	T	0.10706	-1.0618	10	0.32370	T	0.25	-15.8384	8.9311	0.35670	0.0:0.7902:0.0:0.2098	.	158	Q9C0C2	TB182_HUMAN	S	158	ENSP00000350990:A158S;ENSP00000437271:A158S	ENSP00000350990:A158S	A	-	1	0	TNKS1BP1	56844385	0.643000	0.27269	0.131000	0.22000	0.958000	0.62258	0.948000	0.29096	1.030000	0.39839	0.462000	0.41574	GCC	.		0.667	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396	
OR5B12	390191	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	58206901	58206901	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:58206901G>T	ENST00000302572.2	-	1	745	c.724C>A	c.(724-726)Cac>Aac	p.H242N		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H242N(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCAGTAAGGTGGGAAGCACAA	0.423																																					p.H242N		.											.	OR5B12-68	1	Substitution - Missense(1)	lung(1)	c.C724A						.						79.0	76.0	77.0					11																	58206901		2201	4295	6496	SO:0001583	missense	390191	exon1			TAAGGTGGGAAGC	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.724C>A	11.37:g.58206901G>T	ENSP00000306657:p.His242Asn	237	1		204	82	NM_001004733	0	0	0	0	0	B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673272	0.67928	.	.	ENSG00000172362	ENST00000302572	T	0.00314	8.14	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000096	T	0.01254	0.0041	H	0.97491	4.015	0.43527	D	0.995804	D	0.76494	0.999	D	0.77557	0.99	T	0.40040	-0.9584	10	0.87932	D	0	-1.3916	16.2624	0.82553	0.0:0.0:1.0:0.0	.	242	Q96R08	OR5BC_HUMAN	N	242	ENSP00000306657:H242N	ENSP00000306657:H242N	H	-	1	0	OR5B12	57963477	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	9.423000	0.97461	2.383000	0.81215	0.462000	0.41574	CAC	.		0.423	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733	
TMEM132A	54972	hgsc.bcm.edu	37	11	60701987	60701987	+	Silent	SNP	G	G	A	rs7715	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:60701987G>A	ENST00000453848.2	+	9	1745	c.1587G>A	c.(1585-1587)tcG>tcA	p.S529S	TMEM132A_ENST00000005286.4_Silent_p.S530S			Q24JP5	T132A_HUMAN	transmembrane protein 132A	529						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CAGAGGCGTCGGATGAGGCCG	0.776													A|||	2111	0.421526	0.4713	0.4467	5008	,	,		10338	0.3165		0.4225	False		,,,				2504	0.4438				p.S530S		.											.	TMEM132A-227	0			c.G1590A						.	A	,	942,1508		213,516,496	2.0	2.0	2.0		1590,1587	-7.2	0.0	11	dbSNP_52	2	2096,3524		468,1160,1182	no	coding-synonymous,coding-synonymous	TMEM132A	NM_017870.3,NM_178031.2	,	681,1676,1678	AA,AG,GG		37.2954,38.449,37.6456	,	530/1025,529/1024	60701987	3038,5032	1225	2810	4035	SO:0001819	synonymous_variant	54972	exon9			GGCGTCGGATGAG	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1587G>A	11.37:g.60701987G>A		0	0		4	4	NM_017870	0	0	0	54	54	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	CCDS44618.1	914	0.4184981684981685	245	0.49796747967479676	164	0.4530386740331492	185	0.32342657342657344	320	0.42216358839050133	A	4.934	0.173621	0.09391	0.38449	0.372954	ENSG00000006118	ENST00000536409	.	.	.	3.58	-7.16	0.01516	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999658343	.	.	.	.	.	.	T	0.36792	-0.9733	3	.	.	.	.	2.6854	0.05106	0.499:0.0869:0.2045:0.2096	rs7715;rs1054244;rs3168133;rs17341674;rs17349396;rs60745855	.	.	.	R	121	.	.	G	+	1	0	TMEM132A	60458563	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-2.810000	0.00348	-1.376000	0.01182	GGA	G|0.581;A|0.419		0.776	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870	
MEN1	4221	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	64574692	64574692	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:64574692C>A	ENST00000337652.1	-	5	1302		c.e5-1		MEN1_ENST00000377313.1_Splice_Site|MEN1_ENST00000377316.2_Splice_Site|MEN1_ENST00000377326.3_Splice_Site|MEN1_ENST00000312049.6_Splice_Site|MEN1_ENST00000315422.4_Splice_Site|MEN1_ENST00000377321.1_Splice_Site|MEN1_ENST00000394376.1_Splice_Site|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000443283.1_Splice_Site|MEN1_ENST00000394374.2_Splice_Site	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I						brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						AGAGCAGCTTCTAGGAGCCGA	0.627			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												.	Esophageal Squamous(1;83 158 15500 18603 18803 29295)	.	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	.	MEN1-3017	0			c.799-1G>T	GRCh37	CS054204|CS982268	MEN1	S		.						39.0	43.0	42.0					11																	64574692		2201	4297	6498	SO:0001630	splice_region_variant	4221	exon7	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	CAGCTTCTAGGAG	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.799-1G>T	11.37:g.64574692C>A		34	0		26	10	NM_130804	0	0	0	2	2	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Splice_Site	SNP	ENST00000337652.1	37	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942602	0.73672	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8396	0.70214	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MEN1	64331268	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.281000	0.58965	2.158000	0.67659	0.462000	0.41574	.	.		0.627	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1		Intron
PACS1	55690	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	66001334	66001334	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:66001334C>A	ENST00000320580.4	+	16	1950	c.1917C>A	c.(1915-1917)ctC>ctA	p.L639L	PACS1_ENST00000529757.1_Silent_p.L175L	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	639					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GCTCCATCCTCAGGTTCTTTG	0.602																																					p.L639L		.											.	PACS1-74	0			c.C1917A						.						97.0	76.0	84.0					11																	66001334		2200	4295	6495	SO:0001819	synonymous_variant	55690	exon16			CATCCTCAGGTTC	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.1917C>A	11.37:g.66001334C>A		143	0		132	70	NM_018026	0	0	4	8	4	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Silent	SNP	ENST00000320580.4	37	CCDS8129.1																																																																																			.		0.602	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026	
CD248	57124	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	66083700	66083700	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:66083700C>A	ENST00000311330.3	-	1	815	c.799G>T	c.(799-801)Gac>Tac	p.D267Y	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	267					anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						CTGCGCCCGTCTGCTGCCAGC	0.667																																					p.D267Y		.											.	CD248-154	0			c.G799T						.						28.0	37.0	34.0					11																	66083700		2200	4294	6494	SO:0001583	missense	57124	exon1			GCCCGTCTGCTGC	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.799G>T	11.37:g.66083700C>A	ENSP00000308117:p.Asp267Tyr	74	0		124	9	NM_020404	0	0	9	9	0	Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307993	0.60305	.	.	ENSG00000174807	ENST00000311330	D	0.99089	-5.41	4.08	4.08	0.47627	Epidermal growth factor-like (1);	0.149436	0.43747	D	0.000531	D	0.99184	0.9717	M	0.83603	2.65	0.46131	D	0.998886	D	0.89917	1.0	D	0.81914	0.995	D	0.99000	1.0811	10	0.87932	D	0	-21.1168	13.7729	0.63036	0.0:1.0:0.0:0.0	.	267	Q9HCU0	CD248_HUMAN	Y	267	ENSP00000308117:D267Y	ENSP00000308117:D267Y	D	-	1	0	CD248	65840276	0.993000	0.37304	0.455000	0.27031	0.982000	0.71751	3.208000	0.51114	2.107000	0.64212	0.462000	0.41574	GAC	.		0.667	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404	
PPP1CA	5499	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	67167109	67167110	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	CA	CA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:67167109_67167110delCA	ENST00000376745.4	-	4	593_594	c.445_446delTG	c.(445-447)tggfs	p.W149fs	PPP1CA_ENST00000312989.7_Frame_Shift_Del_p.W160fs|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000358239.4_Frame_Shift_Del_p.W105fs	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	149					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GAAGGTTTTCCACAGTTTGATG	0.604																																					p.160_160del		.											.	PPP1CA-659	0			c.478_479del						.																																			SO:0001589	frameshift_variant	5499	exon4			GTTTTCCACAGTT		CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9281	protein-coding gene	gene with protein product		176875	"""protein phosphatase 1, catalytic subunit, alpha isoform"""	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.445_446delTG	11.37:g.67167111_67167112delCA	ENSP00000365936:p.Trp149fs	182	0		120	20	NM_001008709	0	0	0	0	0	A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Frame_Shift_Del	DEL	ENST00000376745.4	37	CCDS8160.1																																																																																			.		0.604	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395487.1	NM_002708	
FGF19	9965	hgsc.bcm.edu	37	11	69518485	69518485	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:69518485C>A	ENST00000294312.3	-	1	925	c.160G>T	c.(160-162)Ggg>Tgg	p.G54W		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	54					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bile acid biosynthetic process (GO:0070858)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of JNK cascade (GO:0046330)	extracellular region (GO:0005576)	fibroblast growth factor receptor binding (GO:0005104)			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CTGGAGAGCCCGTGGGGGCCG	0.771																																					p.G54W		.											.	FGF19-658	0			c.G160T						.						5.0	8.0	7.0					11																	69518485		1528	2816	4344	SO:0001583	missense	9965	exon1			AGAGCCCGTGGGG	AB018122	CCDS8193.1	11q13.1	2008-02-01			ENSG00000162344	ENSG00000162344			3675	protein-coding gene	gene with protein product		603891				9931477, 10525310	Standard	NM_005117		Approved		uc001opf.3	O95750	OTTHUMG00000167886	ENST00000294312.3:c.160G>T	11.37:g.69518485C>A	ENSP00000294312:p.Gly54Trp	2	0		9	9	NM_005117	0	0	0	0	0		Missense_Mutation	SNP	ENST00000294312.3	37	CCDS8193.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491024	0.84962	.	.	ENSG00000162344	ENST00000294312	D	0.86164	-2.08	4.18	4.18	0.49190	.	0.327979	0.28577	N	0.014843	D	0.93884	0.8043	M	0.84511	2.7	0.48632	D	0.999684	D	0.89917	1.0	D	0.87578	0.998	D	0.95132	0.8256	10	0.87932	D	0	-30.2016	16.4975	0.84249	0.0:1.0:0.0:0.0	.	54	O95750	FGF19_HUMAN	W	54	ENSP00000294312:G54W	ENSP00000294312:G54W	G	-	1	0	FGF19	69227666	0.985000	0.35326	0.937000	0.37676	0.918000	0.54935	2.244000	0.43124	1.892000	0.54788	0.455000	0.32223	GGG	.		0.771	FGF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396833.1	NM_005117	
NADSYN1	55191	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	71184625	71184625	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:71184625G>T	ENST00000319023.2	+	8	747	c.559G>T	c.(559-561)Gac>Tac	p.D187Y		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	187	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CCCGCACATCGACATGGGCCT	0.627																																					p.D187Y	Ovarian(79;763 1781 6490 50276)	.											.	NADSYN1-92	0			c.G559T						.						47.0	41.0	43.0					11																	71184625		2200	4294	6494	SO:0001583	missense	55191	exon8			CACATCGACATGG	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.559G>T	11.37:g.71184625G>T	ENSP00000326424:p.Asp187Tyr	139	1		131	65	NM_018161	0	0	0	0	0	B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169262	0.38315	.	.	ENSG00000172890	ENST00000319023	D	0.85411	-1.98	4.99	4.07	0.47477	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.382514	0.26776	N	0.022542	D	0.84942	0.5584	L	0.41824	1.3	0.80722	D	1	P	0.39443	0.674	P	0.51266	0.664	T	0.82494	-0.0429	10	0.37606	T	0.19	-31.3749	11.5358	0.50636	0.0896:0.0:0.9104:0.0	.	187	Q6IA69	NADE_HUMAN	Y	187	ENSP00000326424:D187Y	ENSP00000326424:D187Y	D	+	1	0	NADSYN1	70862273	1.000000	0.71417	0.751000	0.31187	0.880000	0.50808	3.850000	0.55918	1.065000	0.40693	0.561000	0.74099	GAC	.		0.627	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161	
RNF169	254225	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	74546991	74546991	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:74546991C>A	ENST00000299563.4	+	6	1356	c.1343C>A	c.(1342-1344)tCa>tAa	p.S448*		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	448					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						AAGACCCTTTCAAAAGCCACT	0.478																																					p.S448X		.											.	RNF169-69	0			c.C1343A						.						93.0	93.0	93.0					11																	74546991		1844	4086	5930	SO:0001587	stop_gained	254225	exon6			CCCTTTCAAAAGC	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.1343C>A	11.37:g.74546991C>A	ENSP00000299563:p.Ser448*	57	0		46	10	NM_001098638	0	0	3	3	0	Q6N015	Nonsense_Mutation	SNP	ENST00000299563.4	37	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	C	37	6.150017	0.97329	.	.	ENSG00000166439	ENST00000299563	.	.	.	5.99	5.06	0.68205	.	0.066813	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4813	14.8083	0.69974	0.0:0.855:0.145:0.0	.	.	.	.	X	448	.	ENSP00000299563:S448X	S	+	2	0	RNF169	74224639	1.000000	0.71417	0.968000	0.41197	0.916000	0.54674	4.304000	0.59104	1.484000	0.48361	0.655000	0.94253	TCA	.		0.478	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886	
MYO7A	4647	broad.mit.edu	37	11	76905570	76905570	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:76905570G>T	ENST00000409709.3	+	32	4595		c.e32+1		MYO7A_ENST00000409619.2_Splice_Site|MYO7A_ENST00000458637.2_Splice_Site	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA						actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCACAAGAAGGTAGAAGGGCT	0.622																																					.		.											.	MYO7A-138	0			c.4323+1G>T						.						26.0	29.0	28.0					11																	76905570		1992	4139	6131	SO:0001630	splice_region_variant	4647	exon32			AAGAAGGTAGAAG	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4323+1G>T	11.37:g.76905570G>T		87	0		82	3	NM_000260	0	0	0	0	0	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Splice_Site	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240397	0.79912	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.042	0.89321	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO7A	76583218	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.349000	0.97066	2.351000	0.79841	0.508000	0.49915	.	.		0.622	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	Intron
USP35	57558	broad.mit.edu	37	11	77920580	77920580	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:77920580C>A	ENST00000529308.1	+	10	1940	c.1679C>A	c.(1678-1680)gCc>gAc	p.A560D	USP35_ENST00000530267.1_Missense_Mutation_p.A128D|USP35_ENST00000441408.2_Missense_Mutation_p.A146D|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.A291D	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	560	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GAGCCCCCGGCCCCAAGTTCA	0.597																																					p.A560D		.											.	USP35-637	0			c.C1679A						.						40.0	44.0	42.0					11																	77920580		1910	4118	6028	SO:0001583	missense	57558	exon10			CCCCGGCCCCAAG	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1679C>A	11.37:g.77920580C>A	ENSP00000431876:p.Ala560Asp	133	0		109	4	NM_020798	0	0	10	10	0		Missense_Mutation	SNP	ENST00000529308.1	37	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	c	0.175	-1.067737	0.01934	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	4.57	1.61	0.23674	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	2.658710	0.01033	N	0.004179	T	0.20536	0.0494	N	0.16233	0.39	0.09310	N	1	B;B	0.24317	0.042;0.101	B;B	0.25614	0.061;0.062	T	0.17992	-1.0351	10	0.17369	T	0.5	-1.7958	6.6616	0.23016	0.2463:0.4436:0.3101:0.0	.	560;146	Q9P2H5;E7EWV7	UBP35_HUMAN;.	D	128;560;146;291	ENSP00000435468:A128D;ENSP00000431876:A560D;ENSP00000400825:A146D;ENSP00000434942:A291D	ENSP00000400825:A146D	A	+	2	0	USP35	77598228	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.154000	0.10130	0.538000	0.28769	-0.351000	0.07748	GCC	.		0.597	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527	
DLG2	1740	bcgsc.ca	37	11	83641481	83641481	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:83641481C>A	ENST00000532653.1	-	10	1373	c.1071G>T	c.(1069-1071)aaG>aaT	p.K357N	DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000398309.2_Missense_Mutation_p.K357N|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000537455.1_Missense_Mutation_p.K111N|DLG2_ENST00000398301.2_Missense_Mutation_p.K396N|DLG2_ENST00000376104.2_Missense_Mutation_p.K462N|DLG2_ENST00000280241.8_Missense_Mutation_p.K396N|DLG2_ENST00000531015.1_Missense_Mutation_p.K324N|DLG2_ENST00000330014.6_Missense_Mutation_p.K296N|DLG2_ENST00000524982.1_Missense_Mutation_p.K357N|DLG2_ENST00000543673.1_Missense_Mutation_p.K462N			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GAGAAGCAGGCTTATCACATA	0.488																																					p.K462N		.											.	DLG2-96	0			c.G1386T						.						169.0	174.0	172.0					11																	83641481		2012	4195	6207	SO:0001583	missense	1740	exon15			AGCAGGCTTATCA	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1071G>T	11.37:g.83641481C>A	ENSP00000435849:p.Lys357Asn	210	4		172	39	NM_001142699	0	0	2	2	0	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	C	12.39	1.922382	0.33908	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;T;T;T;T;T;T;T;T;T	0.19669	2.65;2.65;2.65;2.61;2.57;2.41;2.65;2.61;2.45;2.13	5.99	3.89	0.44902	.	0.182212	0.34268	N	0.004118	T	0.15652	0.0377	N	0.19112	0.55	0.80722	D	1	P;P;P;P;P;P;P	0.41475	0.608;0.455;0.455;0.608;0.751;0.728;0.455	B;B;B;B;B;P;B	0.44359	0.261;0.193;0.193;0.193;0.104;0.447;0.193	T	0.06006	-1.0851	9	.	.	.	.	9.9452	0.41604	0.0:0.7636:0.0:0.2364	.	324;357;357;296;396;462;357	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700	.;.;.;.;.;.;DLG2_HUMAN	N	357;462;462;396;296;111;357;357;462;324;396	ENSP00000381355:K357N;ENSP00000365272:K462N;ENSP00000441994:K462N;ENSP00000280241:K396N;ENSP00000381353:K296N;ENSP00000443248:K111N;ENSP00000432894:K357N;ENSP00000435849:K357N;ENSP00000433848:K324N;ENSP00000381346:K396N	.	K	-	3	2	DLG2	83319129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.824000	0.39072	1.512000	0.48834	0.655000	0.94253	AAG	.		0.488	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364	
EXPH5	23086	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	108380726	108380726	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:108380726C>A	ENST00000265843.4	-	6	5618	c.5508G>T	c.(5506-5508)ggG>ggT	p.G1836G	EXPH5_ENST00000443411.1_Silent_p.G1648G|EXPH5_ENST00000428840.1_Silent_p.G1760G|EXPH5_ENST00000525344.1_Silent_p.G1829G	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1836					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGAATTCATTCCCAAGGGTCA	0.463																																					p.G1836G		.											.	EXPH5-95	0			c.G5508T						.						60.0	59.0	60.0					11																	108380726		2201	4298	6499	SO:0001819	synonymous_variant	23086	exon6			TTCATTCCCAAGG		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5508G>T	11.37:g.108380726C>A		92	0		70	35	NM_015065	0	0	0	0	0	Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	CCDS8341.1																																																																																			.		0.463	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065	
OR10G4	390264	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	123886949	123886949	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:123886949C>A	ENST00000320891.4	+	1	668	c.668C>A	c.(667-669)tCc>tAc	p.S223Y		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ATCGTCTGTTCCATCCTGCGG	0.537																																					p.S223Y		.											.	OR10G4-93	0			c.C668A						.						193.0	158.0	170.0					11																	123886949		2201	4299	6500	SO:0001583	missense	390264	exon1			TCTGTTCCATCCT	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.668C>A	11.37:g.123886949C>A	ENSP00000325076:p.Ser223Tyr	285	1		221	97	NM_001004462	0	0	0	0	0	Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	c	15.99	2.995365	0.54147	.	.	ENSG00000254737	ENST00000320891	T	0.00164	8.64	3.33	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.146503	0.31051	N	0.008360	T	0.00412	0.0013	M	0.76574	2.34	0.30320	N	0.787699	D	0.60575	0.988	D	0.67725	0.953	T	0.30475	-0.9977	10	0.87932	D	0	.	12.4265	0.55551	0.0:0.829:0.171:0.0	.	223	Q8NGN3	O10G4_HUMAN	Y	223	ENSP00000325076:S223Y	ENSP00000325076:S223Y	S	+	2	0	OR10G4	123392159	0.001000	0.12720	0.783000	0.31826	0.891000	0.51852	1.257000	0.32932	0.731000	0.32448	0.580000	0.79431	TCC	.		0.537	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462	
BARX2	8538	broad.mit.edu;bcgsc.ca	37	11	129306690	129306690	+	Missense_Mutation	SNP	C	C	A	rs571141152		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:129306690C>A	ENST00000281437.4	+	2	328	c.232C>A	c.(232-234)Cgc>Agc	p.R78S	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	78					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.R78C(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GGTGATCACCCGCCAGCCCAC	0.672																																					p.R78S		.											.	BARX2-90	1	Substitution - Missense(1)	central_nervous_system(1)	c.C232A						.						100.0	103.0	102.0					11																	129306690		2201	4297	6498	SO:0001583	missense	8538	exon2			ATCACCCGCCAGC	AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.232C>A	11.37:g.129306690C>A	ENSP00000281437:p.Arg78Ser	159	1		138	11	NM_003658	0	0	0	0	0	O43518|Q6NT51	Missense_Mutation	SNP	ENST00000281437.4	37	CCDS8481.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353052	0.41700	.	.	ENSG00000043039	ENST00000281437	D	0.90563	-2.69	5.23	5.23	0.72850	.	0.129740	0.52532	D	0.000076	D	0.88055	0.6334	L	0.32530	0.975	0.80722	D	1	D	0.62365	0.991	P	0.54815	0.761	D	0.83979	0.0331	10	0.05620	T	0.96	.	13.3401	0.60540	0.1583:0.8417:0.0:0.0	.	78	Q9UMQ3	BARX2_HUMAN	S	78	ENSP00000281437:R78S	ENSP00000281437:R78S	R	+	1	0	BARX2	128811900	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.799000	0.47892	2.713000	0.92767	0.655000	0.94253	CGC	.		0.672	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658	
ADAMTS8	11095	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	130275863	130275863	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:130275863C>A	ENST00000257359.6	-	9	2966	c.2260G>T	c.(2260-2262)Gag>Tag	p.E754*		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	754	Spacer.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATGTCCTGCTCTATGGCAGAG	0.627																																					p.E754X		.											.	ADAMTS8-226	0			c.G2260T						.						81.0	83.0	82.0					11																	130275863		2103	4227	6330	SO:0001587	stop_gained	11095	exon9			CCTGCTCTATGGC	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2260G>T	11.37:g.130275863C>A	ENSP00000257359:p.Glu754*	99	1		94	46	NM_007037	0	0	0	0	0	Q9NZS0	Nonsense_Mutation	SNP	ENST00000257359.6	37	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	46	12.785644	0.99696	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	19.0628	0.93100	0.0:1.0:0.0:0.0	.	.	.	.	X	152;754;783	.	ENSP00000257359:E754X	E	-	1	0	ADAMTS8	129781073	1.000000	0.71417	0.901000	0.35422	0.996000	0.88848	7.487000	0.81328	2.499000	0.84300	0.467000	0.42956	GAG	.		0.627	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037	
IQSEC3	440073	hgsc.bcm.edu	37	12	247900	247900	+	Silent	SNP	G	G	A	rs7313003	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:247900G>A	ENST00000538872.1	+	4	1489	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E	IQSEC3_ENST00000382841.2_Silent_p.E154E|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.E457E|RP11-598F7.4_ENST00000508953.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	457					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		gggcgccggagagcgcgggcc	0.781													G|||	1298	0.259185	0.149	0.1427	5008	,	,		8327	0.371		0.2445	False		,,,				2504	0.3906				p.E457E		.											.	IQSEC3-560	0			c.G1371A						.						4.0	5.0	5.0					12																	247900		1794	3598	5392	SO:0001819	synonymous_variant	440073	exon4			GCCGGAGAGCGCG	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1371G>A	12.37:g.247900G>A		0	0		4	4	NM_001170738	0	0	0	0	0	A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	CCDS53728.1																																																																																			G|0.768;A|0.232		0.781	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902	
CACNA2D4	93589	ucsc.edu;bcgsc.ca	37	12	1902879	1902879	+	Missense_Mutation	SNP	G	G	T	rs145150489	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:1902879G>T	ENST00000382722.5	-	38	3718	c.3356C>A	c.(3355-3357)cCg>cAg	p.P1119Q	CACNA2D4_ENST00000587995.1_Missense_Mutation_p.P1094Q|CACNA2D4_ENST00000538027.2_Missense_Mutation_p.P264Q|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.P1055Q|CACNA2D4_ENST00000538450.1_Missense_Mutation_p.P249Q	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	1119					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GAGTAGGGGCGGCGAGGCTGA	0.652																																					p.P1119Q	Colon(2;101 179 21030 23310 28141)	.											.	CACNA2D4-23	0			c.C3356A						.						32.0	41.0	38.0					12																	1902879		2067	4206	6273	SO:0001583	missense	93589	exon38			AGGGGCGGCGAGG	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.3356C>A	12.37:g.1902879G>T	ENSP00000372169:p.Pro1119Gln	179	3		379	57	NM_172364	0	0	1	1	0	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	7.683	0.689508	0.14973	.	.	ENSG00000151062	ENST00000456077;ENST00000537784;ENST00000545595;ENST00000382722;ENST00000538027;ENST00000538450	T;T	0.55052	0.54;0.54	4.8	2.47	0.30058	.	1.540320	0.03713	N	0.250501	T	0.45054	0.1323	L	0.38175	1.15	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.30621	-0.9972	10	0.49607	T	0.09	.	6.8943	0.24247	0.6965:0.0:0.3035:0.0	.	1119	Q7Z3S7	CA2D4_HUMAN	Q	1055;186;186;1119;186;249	ENSP00000372169:P1119Q;ENSP00000446341:P249Q	ENSP00000372169:P1119Q	P	-	2	0	CACNA2D4	1773140	0.000000	0.05858	0.130000	0.21974	0.545000	0.35147	0.055000	0.14229	0.366000	0.24427	-0.340000	0.08031	CCG	G|0.998;A|0.002		0.652	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2		
ANO2	57101	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	5685071	5685071	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:5685071G>T	ENST00000356134.5	-	25	2624	c.2553C>A	c.(2551-2553)ttC>ttA	p.F851L	ANO2_ENST00000546188.1_Missense_Mutation_p.F851L|ANO2_ENST00000327087.8_Missense_Mutation_p.F850L	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	855					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGCTGACGTTGAAAAAGGAGA	0.527																																					p.F850L		.											.	ANO2-139	0			c.C2550A						.						67.0	69.0	68.0					12																	5685071		1939	4153	6092	SO:0001583	missense	57101	exon24			GACGTTGAAAAAG	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2553C>A	12.37:g.5685071G>T	ENSP00000348453:p.Phe851Leu	145	0		186	18	NM_020373	0	0	0	0	0	C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.191711	0.78902	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.70749	-0.51;-0.51;-0.51	5.28	3.46	0.39613	.	0.000000	0.85682	D	0.000000	D	0.85779	0.5776	M	0.91406	3.205	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.87103	0.2180	10	0.72032	D	0.01	.	11.5498	0.50715	0.1459:0.0:0.8541:0.0	.	850	Q9NQ90-3	.	L	850;851;851;855	ENSP00000314048:F850L;ENSP00000348453:F851L;ENSP00000440981:F851L	ENSP00000314048:F850L	F	-	3	2	ANO2	5555332	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.874000	0.48483	0.729000	0.32403	-0.133000	0.14855	TTC	.		0.527	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	
PIANP	196500	broad.mit.edu;ucsc.edu	37	12	6805620	6805620	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:6805620G>T	ENST00000540656.1	-	4	932	c.594C>A	c.(592-594)atC>atA	p.I198I	PIANP_ENST00000534837.1_Silent_p.I198I|PIANP_ENST00000320591.5_Silent_p.I198I	NM_001244015.1	NP_001230944.1	Q8IYJ0	PIANP_HUMAN	PILR alpha associated neural protein	198						integral component of membrane (GO:0016021)											AGAACTTGAAGATGATGCCAG	0.522																																					p.I198I		.											.	.	0			c.C594A						.						56.0	58.0	58.0					12																	6805620		2087	4218	6305	SO:0001819	synonymous_variant	196500	exon4			CTTGAAGATGATG	BC035736	CCDS44818.1, CCDS58205.1	12p13.31	2012-08-17	2012-08-17	2012-08-17	ENSG00000139200	ENSG00000139200			25338	protein-coding gene	gene with protein product	"""PILR-associating neural protein"""		"""chromosome 12 open reading frame 53"""	C12orf53		12975309	Standard	NM_153685		Approved	DKFZp547D2210, PANP	uc001qqf.2	Q8IYJ0	OTTHUMG00000168664	ENST00000540656.1:c.594C>A	12.37:g.6805620G>T		108	2		121	12	NM_001244014	0	0	0	0	0	A8K0T3|B3KPF7|B3KRI6|Q6UX35	Silent	SNP	ENST00000540656.1	37	CCDS44818.1																																																																																			.		0.522	PIANP-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400524.1	NM_153685	
CD163	9332	broad.mit.edu;bcgsc.ca	37	12	7653770	7653770	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:7653770C>A	ENST00000359156.4	-	3	624	c.422G>T	c.(421-423)tGt>tTt	p.C141F	CD163_ENST00000432237.2_Missense_Mutation_p.C141F|CD163_ENST00000396620.3_Missense_Mutation_p.C141F|CD163_ENST00000541972.1_Missense_Mutation_p.C129F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	141	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TTGGTGAGTACAGTTACTATG	0.448																																					p.C141F		.											.	CD163-98	0			c.G422T						.						216.0	215.0	216.0					12																	7653770		2203	4300	6503	SO:0001583	missense	9332	exon3			TGAGTACAGTTAC	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.422G>T	12.37:g.7653770C>A	ENSP00000352071:p.Cys141Phe	133	1		169	8	NM_203416	0	0	2	2	0	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274932	0.80580	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.15	5.15	0.70609	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.425559	0.23943	N	0.043024	T	0.75649	0.3878	M	0.91818	3.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.80995	-0.1133	10	0.87932	D	0	.	16.9175	0.86155	0.0:1.0:0.0:0.0	.	141;141;141	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	F	141;129;141;141	ENSP00000352071:C141F;ENSP00000444071:C129F;ENSP00000379863:C141F;ENSP00000403885:C141F	ENSP00000352071:C141F	C	-	2	0	CD163	7545037	1.000000	0.71417	0.988000	0.46212	0.941000	0.58515	7.622000	0.83099	2.780000	0.95670	0.655000	0.94253	TGT	.		0.448	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416	
PHC1	1911	broad.mit.edu	37	12	9085175	9085175	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:9085175C>A	ENST00000543824.1	+	9	1454	c.1122C>A	c.(1120-1122)atC>atA	p.I374I	PHC1_ENST00000433083.2_Silent_p.I329I|PHC1_ENST00000536844.1_Silent_p.I153I|PHC1_ENST00000544916.1_Silent_p.I374I|PHC1_ENST00000433847.2_3'UTR			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	374					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ACACACAGATCCAGCCCCATT	0.428																																					p.I374I		.											.	PHC1-154	0			c.C1122A						.						67.0	65.0	66.0					12																	9085175		2203	4300	6503	SO:0001819	synonymous_variant	1911	exon8			ACAGATCCAGCCC	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.1122C>A	12.37:g.9085175C>A		185	1		268	18	NM_004426	0	0	6	6	0	D3DUV4|Q8WVM3|Q9BU63	Silent	SNP	ENST00000543824.1	37	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	C	6.022	0.372377	0.11409	.	.	ENSG00000111752	ENST00000537610	.	.	.	5.27	4.38	0.52667	.	.	.	.	.	T	0.62841	0.2461	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61417	-0.7067	4	.	.	.	-18.5114	11.4528	0.50162	0.0:0.8504:0.0:0.1496	.	.	.	.	Y	10	.	.	S	+	2	0	PHC1	8976442	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.972000	0.29409	1.448000	0.47680	0.650000	0.86243	TCC	.		0.428	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426	
GABARAPL1	23710	broad.mit.edu;bcgsc.ca	37	12	10365807	10365807	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:10365807G>T	ENST00000266458.5	+	1	404	c.79G>T	c.(79-81)Gac>Tac	p.D27Y	GABARAPL1_ENST00000543602.1_Missense_Mutation_p.D27Y|GABARAPL1_ENST00000535576.1_5'Flank|GABARAPL1_ENST00000545047.1_Missense_Mutation_p.D27Y|GABARAPL1_ENST00000545887.1_Missense_Mutation_p.D27Y|GABARAPL1_ENST00000546017.1_5'Flank|RP11-656E20.5_ENST00000538416.1_RNA|GABARAPL1_ENST00000421801.2_Missense_Mutation_p.D27Y|GABARAPL1_ENST00000539170.1_5'Flank|GABARAPL1_ENST00000544284.1_5'UTR	NM_031412.2	NP_113600.1	Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1	27					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cell body (GO:0044297)|cytoplasmic vesicle (GO:0031410)|dendrite cytoplasm (GO:0032839)|dendrite membrane (GO:0032590)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|microtubule (GO:0005874)	beta-tubulin binding (GO:0048487)|GABA receptor binding (GO:0050811)			NS(1)|lung(1)	2						GAAATATCCGGACAGGGTCCC	0.617																																					p.D27Y	Melanoma(3;46 76 4652 22680 42285)	.											.	GABARAPL1-90	0			c.G79T						.						18.0	17.0	17.0					12																	10365807		2190	4285	6475	SO:0001583	missense	23710	exon1			TATCCGGACAGGG	AF087847	CCDS8620.1	12p13.31	2014-02-12			ENSG00000139112	ENSG00000139112			4068	protein-coding gene	gene with protein product		607420				11414770, 11374880	Standard	NM_031412		Approved	gec1, APG8L, ATG8L, ATG8B	uc001qxs.3	Q9H0R8	OTTHUMG00000168411	ENST00000266458.5:c.79G>T	12.37:g.10365807G>T	ENSP00000266458:p.Asp27Tyr	123	2		258	71	NM_031412	0	0	68	121	53	B4E0Y7|Q6FIE6	Missense_Mutation	SNP	ENST00000266458.5	37	CCDS8620.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584937	0.65992	.	.	ENSG00000139112	ENST00000545859;ENST00000266458;ENST00000421801;ENST00000545047;ENST00000543602;ENST00000545887	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000002	T	0.74222	0.3688	M	0.90870	3.155	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.981;0.985	T	0.81008	-0.1127	10	0.87932	D	0	.	15.3362	0.74255	0.0:0.0:1.0:0.0	.	27;27	B4E0Y7;Q9H0R8	.;GBRL1_HUMAN	Y	27	ENSP00000444108:D27Y;ENSP00000266458:D27Y;ENSP00000411256:D27Y;ENSP00000445857:D27Y;ENSP00000444186:D27Y	ENSP00000266458:D27Y	D	+	1	0	GABARAPL1	10257074	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.154000	0.94694	2.472000	0.83506	0.591000	0.81541	GAC	.		0.617	GABARAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399651.1		
STYK1	55359	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	10777358	10777358	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:10777358G>T	ENST00000075503.3	-	8	1338	c.818C>A	c.(817-819)gCt>gAt	p.A273D		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AACTTCATAAGCCAGGCCTAA	0.507										HNSCC(73;0.22)																											p.A273D		.											.	STYK1-1379	0			c.C818A						.						206.0	200.0	202.0					12																	10777358		2203	4300	6503	SO:0001583	missense	55359	exon8			TCATAAGCCAGGC	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.818C>A	12.37:g.10777358G>T	ENSP00000075503:p.Ala273Asp	164	0		258	63	NM_018423	0	0	0	0	0	B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364752	0.82463	.	.	ENSG00000060140	ENST00000075503	T	0.74315	-0.83	4.88	4.88	0.63580	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000004	D	0.90710	0.7085	H	0.97158	3.95	0.58432	D	0.999998	D	0.76494	0.999	D	0.85130	0.997	D	0.93723	0.7034	10	0.87932	D	0	-12.8068	15.8643	0.79052	0.0:0.0:1.0:0.0	.	273	Q6J9G0	STYK1_HUMAN	D	273	ENSP00000075503:A273D	ENSP00000075503:A273D	A	-	2	0	STYK1	10668625	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.436000	0.73417	2.419000	0.82065	0.655000	0.94253	GCT	.		0.507	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423	
GPRC5D	55507	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	13102863	13102863	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:13102863C>A	ENST00000228887.1	-	1	455	c.456G>T	c.(454-456)atG>atT	p.M152I	RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.M152I|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000538231.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TACCTCTGGTCATGATGAGAG	0.463																																					p.M152I		.											.	GPRC5D-90	0			c.G456T						.						127.0	99.0	109.0					12																	13102863		2203	4300	6503	SO:0001583	missense	55507	exon1			TCTGGTCATGATG	AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291		"""GPCR / Class C : Orphans"""	13310	protein-coding gene	gene with protein product		607437	"""G protein-coupled receptor, family C, group 5, member D"""				Standard	XM_005253421		Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.456G>T	12.37:g.13102863C>A	ENSP00000228887:p.Met152Ile	171	1		271	38	NM_018654	0	0	0	0	0	Q3KNV3|Q7Z5J9|Q8TDS6	Missense_Mutation	SNP	ENST00000228887.1	37	CCDS8658.1	.	.	.	.	.	.	.	.	.	.	C	5.315	0.243463	0.10077	.	.	ENSG00000111291	ENST00000228887;ENST00000396333	D;D	0.87887	-2.31;-2.31	6.17	3.31	0.37934	GPCR, family 3, C-terminal (1);	0.321151	0.32258	N	0.006348	T	0.77425	0.4128	L	0.41710	1.295	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.59830	-0.7380	10	0.22109	T	0.4	.	4.7979	0.13281	0.1152:0.5385:0.2229:0.1234	.	152	Q9NZD1	GPC5D_HUMAN	I	152	ENSP00000228887:M152I;ENSP00000379624:M152I	ENSP00000228887:M152I	M	-	3	0	GPRC5D	12994130	0.619000	0.27059	0.159000	0.22649	0.521000	0.34408	0.068000	0.14531	0.448000	0.26722	0.655000	0.94253	ATG	.		0.463	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400687.1		
GRIN2B	2904	bcgsc.ca	37	12	13761624	13761624	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:13761624G>T	ENST00000609686.1	-	9	2132	c.1923C>A	c.(1921-1923)atC>atA	p.I641I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	641					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGCCAGGAAGATGACAGCAA	0.512																																					p.I641I		.											.	GRIN2B-231	0			c.C1923A						.						147.0	123.0	131.0					12																	13761624		2203	4300	6503	SO:0001819	synonymous_variant	2904	exon9			CAGGAAGATGACA		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1923C>A	12.37:g.13761624G>T		217	2		288	17	NM_000834	0	0	0	0	0	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	CCDS8662.1																																																																																			.		0.512	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		
PLEKHA5	54477	bcgsc.ca	37	12	19475524	19475524	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:19475524C>A	ENST00000299275.6	+	15	2068	c.2062C>A	c.(2062-2064)Cag>Aag	p.Q688K	PLEKHA5_ENST00000543806.1_Missense_Mutation_p.Q607K|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.Q746K|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.Q619K|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Q746K|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Q688K|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.Q446K|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Q791K|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.Q688K	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	688					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AGCAGCCATTCAGACAGTGGT	0.408																																					p.Q791K	Pancreas(196;329 2193 11246 14234 19524)	.											.	PLEKHA5-227	0			c.C2371A						.						87.0	83.0	84.0					12																	19475524		2203	4300	6503	SO:0001583	missense	54477	exon20			GCCATTCAGACAG	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2062C>A	12.37:g.19475524C>A	ENSP00000299275:p.Gln688Lys	173	2		210	20	NM_001256470	0	0	17	17	0	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118439	0.77323	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5	4.76	4.76	0.60689	.	0.056283	0.64402	D	0.000001	T	0.38983	0.1061	M	0.75447	2.3	0.43444	D	0.995628	D;P;P;D;D;D;P;P	0.69078	0.971;0.812;0.714;0.997;0.996;0.975;0.714;0.812	P;P;B;D;D;D;B;P	0.72982	0.882;0.481;0.288;0.977;0.979;0.949;0.404;0.481	T	0.26430	-1.0103	10	0.62326	D	0.03	-12.6456	17.9632	0.89092	0.0:1.0:0.0:0.0	.	688;607;619;791;688;791;688;746	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	K	688;746;688;792;791;688;446;746;619;607;580;25	ENSP00000325155:Q688K;ENSP00000347560:Q746K;ENSP00000352104:Q688K;ENSP00000404296:Q791K;ENSP00000299275:Q688K;ENSP00000440611:Q446K;ENSP00000439673:Q746K;ENSP00000400411:Q619K;ENSP00000439837:Q607K;ENSP00000440371:Q580K;ENSP00000443553:Q25K	ENSP00000299275:Q688K	Q	+	1	0	PLEKHA5	19366791	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.060000	0.64312	2.462000	0.83206	0.557000	0.71058	CAG	.		0.408	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012	
ASUN	55726	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	27066421	27066421	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:27066421C>A	ENST00000261191.7	-	14	2310	c.1774G>T	c.(1774-1776)Gaa>Taa	p.E592*	ASUN_ENST00000539625.1_Nonsense_Mutation_p.E491*	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	592					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TTTTCCTGTTCATAATCTTTC	0.443																																					p.E592X		.											.	.	0			c.G1774T						.						330.0	308.0	315.0					12																	27066421		2203	4300	6503	SO:0001587	stop_gained	55726	exon14			CCTGTTCATAATC	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1774G>T	12.37:g.27066421C>A	ENSP00000261191:p.Glu592*	93	0		100	28	NM_018164	0	0	46	50	4	B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Nonsense_Mutation	SNP	ENST00000261191.7	37	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567311	0.86439	.	.	ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625;ENST00000335745	.	.	.	5.07	5.07	0.68467	.	0.363448	0.31760	N	0.007115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-11.2572	17.5062	0.87746	0.0:1.0:0.0:0.0	.	.	.	.	X	239;592;491;179	.	ENSP00000261191:E592X	E	-	1	0	C12orf11	26957688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.843000	0.39259	2.727000	0.93392	0.591000	0.81541	GAA	.		0.443	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164	
KLHL42	57542	broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	27933962	27933962	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:27933962C>A	ENST00000381271.2	+	1	1010	c.699C>A	c.(697-699)gcC>gcA	p.A233A	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	233					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TCCCGCTGGCCAACAACCTTC	0.627																																					p.A233A		.											.	.	0			c.C699A						.						78.0	57.0	64.0					12																	27933962		2203	4300	6503	SO:0001819	synonymous_variant	57542	exon1			GCTGGCCAACAAC	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.699C>A	12.37:g.27933962C>A		124	1		165	40	NM_020782	0	0	5	9	4	Q2VPK1|Q8N334	Silent	SNP	ENST00000381271.2	37	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830019	0.50845	.	.	ENSG00000087448	ENST00000543254	.	.	.	4.73	2.89	0.33648	.	.	.	.	.	T	0.57975	0.2090	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51818	-0.8657	4	.	.	.	.	8.5629	0.33523	0.1525:0.7677:0.0:0.0797	.	.	.	.	K	55	.	.	Q	+	1	0	KLHDC5	27825229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.539000	0.36104	0.598000	0.29829	0.586000	0.80456	CAA	.		0.627	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782	
LRRK2	120892	broad.mit.edu	37	12	40689345	40689345	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:40689345G>T	ENST00000298910.7	+	23	3053	c.2995G>T	c.(2995-2997)Gcc>Tcc	p.A999S	LRRK2_ENST00000343742.2_Missense_Mutation_p.A999S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	999					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGATATTGATGCCCTAAGCCA	0.413																																					p.A999S		.											.	LRRK2-533	0			c.G2995T						.						84.0	78.0	80.0					12																	40689345		2203	4300	6503	SO:0001583	missense	120892	exon23			ATTGATGCCCTAA	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2995G>T	12.37:g.40689345G>T	ENSP00000298910:p.Ala999Ser	97	2		93	7	NM_198578	0	0	0	2	2	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393882	0.62066	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.71103	2.36;-0.54	5.71	4.76	0.60689	.	0.250090	0.39544	N	0.001337	T	0.47764	0.1463	N	0.10629	0.01	0.30473	N	0.773097	B;B	0.22003	0.051;0.063	B;B	0.26310	0.045;0.068	T	0.40887	-0.9539	10	0.11485	T	0.65	.	11.212	0.48804	0.0:0.1373:0.7204:0.1423	.	999;999	E9PC85;Q5S007	.;LRRK2_HUMAN	S	999	ENSP00000341930:A999S;ENSP00000298910:A999S	ENSP00000298910:A999S	A	+	1	0	LRRK2	38975612	1.000000	0.71417	0.994000	0.49952	0.943000	0.58893	1.931000	0.40134	2.695000	0.91970	0.591000	0.81541	GCC	.		0.413	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
KANSL2	54934	broad.mit.edu;ucsc.edu	37	12	49075169	49075169	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:49075169C>A	ENST00000420613.2	-	2	294	c.247G>T	c.(247-249)Gat>Tat	p.D83Y	KANSL2_ENST00000553086.1_Missense_Mutation_p.D83Y|KANSL2_ENST00000357861.3_5'UTR|KANSL2_ENST00000550347.1_Missense_Mutation_p.D266Y	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	83					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											ATATACCCATCTTTCTTCTCT	0.413																																					p.D83Y		.											.	.	0			c.G247T						.						117.0	110.0	112.0					12																	49075169		1840	4094	5934	SO:0001583	missense	54934	exon2			ACCCATCTTTCTT	AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.247G>T	12.37:g.49075169C>A	ENSP00000415436:p.Asp83Tyr	59	1		91	11	NM_017822	0	0	0	0	0	Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	ENST00000420613.2	37	CCDS44869.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924830	0.92319	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000553086;ENST00000550870	T;T;T;T	0.77358	-1.09;-1.09;-1.09;0.91	5.59	5.59	0.84812	.	.	.	.	.	D	0.83848	0.5343	L	0.37850	1.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.98;0.994	D	0.85296	0.1070	9	0.87932	D	0	.	18.3649	0.90388	0.0:1.0:0.0:0.0	.	266;83	F8VX10;Q9H9L4	.;CL041_HUMAN	Y	266;83;83;83	ENSP00000449747:D266Y;ENSP00000415436:D83Y;ENSP00000448833:D83Y;ENSP00000448473:D83Y	ENSP00000415436:D83Y	D	-	1	0	C12orf41	47361436	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.551000	0.82182	2.635000	0.89317	0.467000	0.42956	GAT	.		0.413	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822	
RND1	27289	broad.mit.edu	37	12	49254807	49254807	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:49254807C>A	ENST00000309739.5	-	4	556	c.426G>T	c.(424-426)caG>caT	p.Q142H		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	142					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GCGCCTGCTTCTGGTGGGACA	0.547																																					p.Q142H		.											.	RND1-228	0			c.G426T						.						107.0	98.0	101.0					12																	49254807		2203	4300	6503	SO:0001583	missense	27289	exon4			CTGCTTCTGGTGG	Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"""ras homolog gene family, member S"""	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.426G>T	12.37:g.49254807C>A	ENSP00000308461:p.Gln142His	93	2		122	15	NM_014470	0	0	0	0	0	A8K9P7	Missense_Mutation	SNP	ENST00000309739.5	37	CCDS8771.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987239	0.35036	.	.	ENSG00000172602	ENST00000550607;ENST00000309739	T;T	0.69926	-0.44;-0.44	5.78	4.9	0.64082	.	0.055851	0.64402	D	0.000001	T	0.67859	0.2938	N	0.21583	0.68	0.58432	D	0.999999	D	0.63046	0.992	D	0.70716	0.97	T	0.66594	-0.5884	10	0.33940	T	0.23	0.3639	10.8765	0.46915	0.0:0.8479:0.0:0.1521	.	142	Q92730	RND1_HUMAN	H	36;142	ENSP00000447059:Q36H;ENSP00000308461:Q142H	ENSP00000308461:Q142H	Q	-	3	2	RND1	47541074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.608000	0.36847	1.597000	0.50072	0.655000	0.94253	CAG	.		0.547	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408915.1	NM_014470	
ASIC1	41	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	50471033	50471033	+	Nonsense_Mutation	SNP	C	C	A	rs374170551		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:50471033C>A	ENST00000447966.2	+	4	825	c.596C>A	c.(595-597)tCg>tAg	p.S199*	ASIC1_ENST00000552438.1_Nonsense_Mutation_p.S233*|ASIC1_ENST00000228468.4_Nonsense_Mutation_p.S199*	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	199					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	ACGTTCAACTCGGGCCGAGAT	0.602																																					p.S233X		.											.	.	0			c.C698A						.						96.0	81.0	86.0					12																	50471033		2203	4300	6503	SO:0001587	stop_gained	41	exon2			TCAACTCGGGCCG	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.596C>A	12.37:g.50471033C>A	ENSP00000400228:p.Ser199*	134	1		148	19	NM_001256830	0	0	0	0	0	A3KN86|E5KBL7|P78349|Q96CV2	Nonsense_Mutation	SNP	ENST00000447966.2	37	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	C	38	6.943200	0.97952	.	.	ENSG00000110881	ENST00000228468;ENST00000447966;ENST00000552438	.	.	.	4.03	4.03	0.46877	.	0.079544	0.51477	D	0.000098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0776	16.7487	0.85479	0.0:1.0:0.0:0.0	.	.	.	.	X	199;199;233	.	ENSP00000228468:S199X	S	+	2	0	ACCN2	48757300	1.000000	0.71417	0.979000	0.43373	0.952000	0.60782	7.596000	0.82721	2.258000	0.74832	0.561000	0.74099	TCG	.		0.602	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039	
FAM186A	121006	bcgsc.ca	37	12	50727696	50727696	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:50727696G>T	ENST00000327337.5	-	5	6693	c.6694C>A	c.(6694-6696)Cag>Aag	p.Q2232K	FAM186A_ENST00000543111.1_Missense_Mutation_p.Q2232K|FAM186A_ENST00000543096.1_Missense_Mutation_p.Q243K	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	2232																	CAGGTTACCTGGTTGAATACG	0.433																																					p.Q2232K	NSCLC(138;1796 1887 12511 19463 37884)	.											.	FAM186A-68	0			c.C6694A						.						188.0	149.0	161.0					12																	50727696		692	1591	2283	SO:0001583	missense	121006	exon5			TTACCTGGTTGAA		CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.6694C>A	12.37:g.50727696G>T	ENSP00000329995:p.Gln2232Lys	164	2		238	9	NM_001145475	0	0	0	0	0		Missense_Mutation	SNP	ENST00000327337.5	37	CCDS44878.1	.	.	.	.	.	.	.	.	.	.	G	0.395	-0.921408	0.02396	.	.	ENSG00000185958	ENST00000543111;ENST00000543096;ENST00000327337	T;T;T	0.14766	2.48;2.48;2.48	4.27	2.42	0.29668	.	.	.	.	.	T	0.06872	0.0175	N	0.10782	0.045	0.23168	N	0.998184	B;B	0.30709	0.291;0.291	B;B	0.29598	0.104;0.104	T	0.38585	-0.9654	9	0.28530	T	0.3	.	7.4369	0.27160	0.0:0.185:0.6231:0.192	.	2232;2232	F5GYN0;A6NE01	.;F186A_HUMAN	K	2232;243;2232	ENSP00000441337:Q2232K;ENSP00000443703:Q243K;ENSP00000329995:Q2232K	ENSP00000329995:Q2232K	Q	-	1	0	FAM186A	49013963	0.929000	0.31497	0.662000	0.29724	0.007000	0.05969	0.947000	0.29082	0.734000	0.32515	-0.257000	0.10917	CAG	.		0.433	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396838.1	XM_001718353	
KRT74	121391	broad.mit.edu;bcgsc.ca	37	12	52967318	52967318	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:52967318C>A	ENST00000305620.2	-	1	291	c.244G>T	c.(244-246)Gga>Tga	p.G82*	KRT74_ENST00000549343.1_Nonsense_Mutation_p.G82*	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	82	Gly-rich.|Head.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CGGCCCCCTCCATACCCAGAG	0.617																																					p.G82X		.											.	KRT74-92	0			c.G244T						.						41.0	48.0	46.0					12																	52967318		2203	4300	6503	SO:0001587	stop_gained	121391	exon1			CCCCTCCATACCC	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.244G>T	12.37:g.52967318C>A	ENSP00000307240:p.Gly82*	68	0		98	6	NM_175053	0	0	0	0	0	B5MD61|Q86Y45	Nonsense_Mutation	SNP	ENST00000305620.2	37	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	C	36	5.694619	0.96793	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	.	.	.	4.39	2.36	0.29203	.	0.233991	0.22254	N	0.062514	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	9.1855	0.37168	0.1441:0.7764:0.0:0.0795	.	.	.	.	X	82	.	ENSP00000307240:G82X	G	-	1	0	KRT74	51253585	0.111000	0.22076	0.835000	0.33067	0.937000	0.57800	3.541000	0.53618	1.150000	0.42419	0.555000	0.69702	GGA	.		0.617	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053	
KRT72	140807	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	52992834	52992834	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:52992834C>A	ENST00000537672.2	-	2	499	c.489G>T	c.(487-489)ctG>ctT	p.L163L	KRT72_ENST00000354310.4_Silent_p.L163L|KRT72_ENST00000293745.2_Silent_p.L163L|RP11-641A6.2_ENST00000551089.1_RNA|KRT72_ENST00000398066.3_5'UTR	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	163	Linker 1.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGTTCAAGTCCAGCTGCTGTA	0.572																																					p.L163L		.											.	KRT72-96	0			c.G489T						.						130.0	119.0	123.0					12																	52992834		2203	4300	6503	SO:0001819	synonymous_variant	140807	exon2			CAAGTCCAGCTGC	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.489G>T	12.37:g.52992834C>A		103	1		119	31	NM_001146225	0	0	0	0	0	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	ENST00000537672.2	37	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	8.935	0.964323	0.18583	.	.	ENSG00000170486	ENST00000549979	.	.	.	5.25	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8618	0.08999	0.0:0.5766:0.2322:0.1912	.	.	.	.	X	160	.	.	G	-	1	0	KRT72	51279101	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	2.606000	0.46291	2.838000	0.97847	0.561000	0.74099	GGA	.		0.572	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747	
KRT3	3850	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	53189266	53189266	+	Silent	SNP	G	G	T	rs369823813	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:53189266G>T	ENST00000417996.2	-	1	635	c.561C>A	c.(559-561)atC>atA	p.I187I	KRT3_ENST00000309505.3_Silent_p.I187I	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	187	Head.			I -> T (in Ref. 1; CAA28991). {ECO:0000305}.	epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCTGGGGGTCGATCTCCACAT	0.542																																					p.I187I		.											.	KRT3-90	0			c.C561A						.						74.0	96.0	89.0					12																	53189266		2203	4300	6503	SO:0001819	synonymous_variant	3850	exon1			GGGGTCGATCTCC		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.561C>A	12.37:g.53189266G>T		129	0		204	23	NM_057088	0	0	0	0	0	A6NIS2|Q701L8	Silent	SNP	ENST00000417996.2	37	CCDS44895.1																																																																																			.		0.542	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088	
GPR84	53831	ucsc.edu	37	12	54756471	54756471	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:54756471G>T	ENST00000551809.1	-	1	1800	c.1165C>A	c.(1165-1167)Ccc>Acc	p.P389T	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.P389T			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	389						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						AAACTCCGGGGCCCTCTTTTT	0.512																																					p.P389T		.											.	GPR84-523	0			c.C1165A						.						151.0	175.0	167.0					12																	54756471		2202	4300	6502	SO:0001583	missense	53831	exon2			TCCGGGGCCCTCT	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.1165C>A	12.37:g.54756471G>T	ENSP00000450310:p.Pro389Thr	221	4		372	53	NM_020370	0	0	0	0	0	B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	G	3.320	-0.139033	0.06669	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.36699	1.24;1.24	5.43	3.5	0.40072	.	0.286130	0.28257	N	0.016008	T	0.22704	0.0548	L	0.31207	0.915	0.28410	N	0.918225	B	0.06786	0.001	B	0.04013	0.001	T	0.10965	-1.0607	10	0.22706	T	0.39	-18.0744	7.733	0.28797	0.0881:0.0:0.7523:0.1597	.	389	Q9NQS5	GPR84_HUMAN	T	389	ENSP00000267015:P389T;ENSP00000450310:P389T	ENSP00000267015:P389T	P	-	1	0	GPR84	53042738	0.905000	0.30787	0.914000	0.36105	0.065000	0.16274	1.101000	0.31037	1.436000	0.47453	0.655000	0.94253	CCC	.		0.512	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1		
LACRT	90070	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	55025610	55025610	+	Missense_Mutation	SNP	C	C	A	rs201410599		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:55025610C>A	ENST00000257867.4	-	4	320	c.267G>T	c.(265-267)gaG>gaT	p.E89D	LACRT_ENST00000547511.1_Intron	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	89					calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						AGATACTTTTCTCCACTATGG	0.463																																					p.E89D		.											.	LACRT-90	0			c.G267T						.						176.0	159.0	165.0					12																	55025610		2203	4300	6503	SO:0001583	missense	90070	exon4			ACTTTTCTCCACT	AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.267G>T	12.37:g.55025610C>A	ENSP00000257867:p.Glu89Asp	73	0		108	13	NM_033277	0	0	0	0	0		Missense_Mutation	SNP	ENST00000257867.4	37	CCDS8883.1	.	.	.	.	.	.	.	.	.	.	C	5.502	0.277624	0.10403	.	.	ENSG00000135413	ENST00000257867	.	.	.	2.52	-0.74	0.11115	.	.	.	.	.	T	0.21307	0.0513	N	0.14661	0.345	0.09310	N	1	B	0.16603	0.018	B	0.20184	0.028	T	0.26360	-1.0105	7	.	.	.	.	5.7578	0.18182	0.1888:0.3459:0.4653:0.0	.	89	Q9GZZ8	LACRT_HUMAN	D	89	.	.	E	-	3	2	LACRT	53311877	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-2.164000	0.01275	-0.164000	0.10927	0.462000	0.41574	GAG	C|0.999;T|0.001		0.463	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406615.1	NM_033277	
ESYT1	23344	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	56522216	56522216	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:56522216C>A	ENST00000394048.5	+	1	377	c.113C>A	c.(112-114)tCt>tAt	p.S38Y	RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA|ESYT1_ENST00000541590.1_Missense_Mutation_p.S38Y|ESYT1_ENST00000267113.4_Missense_Mutation_p.S38Y	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	38					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GACCCAGGTTCTGGGGGCCAA	0.692																																					p.S38Y		.											.	ESYT1-95	0			c.C113A						.						48.0	52.0	51.0					12																	56522216		2199	4296	6495	SO:0001583	missense	23344	exon1			CAGGTTCTGGGGG	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.113C>A	12.37:g.56522216C>A	ENSP00000377612:p.Ser38Tyr	39	0		91	22	NM_015292	0	0	18	26	8	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347087	0.82022	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.56444	0.46;0.46;0.46	5.01	5.01	0.66863	.	0.487974	0.20656	N	0.088116	T	0.54175	0.1842	L	0.36672	1.1	0.09310	N	0.999995	P;P	0.47191	0.891;0.826	P;B	0.49999	0.628;0.424	T	0.52139	-0.8615	10	0.62326	D	0.03	-5.7667	15.6997	0.77535	0.0:1.0:0.0:0.0	.	38;38	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	Y	38	ENSP00000377612:S38Y;ENSP00000267113:S38Y;ENSP00000445952:S38Y	ENSP00000267113:S38Y	S	+	2	0	ESYT1	54808483	0.016000	0.18221	0.060000	0.19600	0.162000	0.22319	2.583000	0.46094	2.779000	0.95612	0.561000	0.74099	TCT	.		0.692	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292	
PAN2	9924	ucsc.edu;bcgsc.ca	37	12	56716450	56716450	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:56716450G>T	ENST00000425394.2	-	18	2974	c.2598C>A	c.(2596-2598)ggC>ggA	p.G866G	PAN2_ENST00000257931.5_Silent_p.G865G|PAN2_ENST00000440411.3_Silent_p.G862G|PAN2_ENST00000548043.1_Silent_p.G866G	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CCACCAGGCTGCCCCCTGTGC	0.587																																					p.G866G		.											.	PAN2-702	0			c.C2598A						.						108.0	90.0	97.0					12																	56716450		2203	4300	6503	SO:0001819	synonymous_variant	9924	exon18			CAGGCTGCCCCCT	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2598C>A	12.37:g.56716450G>T		124	2		178	44	NM_001127460	0	0	8	12	4		Silent	SNP	ENST00000425394.2	37	CCDS44922.1																																																																																			.		0.587	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871	
MIP	4284	broad.mit.edu;bcgsc.ca	37	12	56845152	56845152	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:56845152G>T	ENST00000257979.4	-	4	732	c.704C>A	c.(703-705)tCt>tAt	p.S235Y	MIP_ENST00000555551.1_5'Flank|TIMELESS_ENST00000229201.4_5'Flank|TIMELESS_ENST00000553532.1_5'Flank|TIMELESS_ENST00000554616.1_5'Flank	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	235	Interaction with CALM. {ECO:0000250}.				canalicular bile acid transport (GO:0015722)|lens development in camera-type eye (GO:0002088)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)|water transport (GO:0006833)	gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|structural constituent of eye lens (GO:0005212)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						CTTGAGGACAGACAGTCTCTC	0.557																																					p.S235Y		.											.	MIP-91	0			c.C704A						.						91.0	91.0	91.0					12																	56845152		2203	4300	6503	SO:0001583	missense	4284	exon4			AGGACAGACAGTC		CCDS8919.1	12q13	2012-10-02				ENSG00000135517		"""Ion channels / Aquaporins"""	7103	protein-coding gene	gene with protein product	aquaporin 0	154050				1840563, 7536742	Standard	NM_012064		Approved	MP26, LIM1, AQP0	uc001slh.3	P30301		ENST00000257979.4:c.704C>A	12.37:g.56845152G>T	ENSP00000257979:p.Ser235Tyr	161	2		211	20	NM_012064	0	0	4	4	0	Q17R41	Missense_Mutation	SNP	ENST00000257979.4	37	CCDS8919.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918410	0.73098	.	.	ENSG00000135517	ENST00000257979	D	0.87887	-2.31	4.55	4.55	0.56014	Aquaporin-like (1);	0.119717	0.56097	D	0.000024	D	0.84056	0.5388	L	0.50333	1.59	0.49915	D	0.999838	P	0.46277	0.875	B	0.39339	0.297	D	0.87110	0.2184	10	0.72032	D	0.01	-14.5971	16.4785	0.84151	0.0:0.0:1.0:0.0	.	235	P30301	MIP_HUMAN	Y	235	ENSP00000257979:S235Y	ENSP00000257979:S235Y	S	-	2	0	MIP	55131419	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	7.601000	0.82783	2.234000	0.73211	0.555000	0.69702	TCT	.		0.557	MIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409620.1	NM_012064	
ZFC3H1	196441	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	72017939	72017939	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:72017939C>A	ENST00000378743.3	-	23	4809	c.4451G>T	c.(4450-4452)aGa>aTa	p.R1484I		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1484					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAGCTGAACTCTAAACAAAAG	0.393																																					p.R1484I		.											.	ZFC3H1-138	0			c.G4451T						.						175.0	170.0	171.0					12																	72017939		1831	4084	5915	SO:0001583	missense	196441	exon23			TGAACTCTAAACA	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.4451G>T	12.37:g.72017939C>A	ENSP00000368017:p.Arg1484Ile	52	0		78	28	NM_144982	0	0	2	6	4	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487491	0.84854	.	.	ENSG00000133858	ENST00000378743	T	0.33865	1.39	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.47060	0.1425	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.21518	-1.0243	10	0.25106	T	0.35	.	14.4406	0.67314	0.0:0.927:0.0:0.073	.	1484	O60293	ZC3H1_HUMAN	I	1484	ENSP00000368017:R1484I	ENSP00000368017:R1484I	R	-	2	0	ZFC3H1	70304206	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.215000	0.65241	2.520000	0.84964	0.655000	0.94253	AGA	.		0.393	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982	
GLIPR1L1	256710	broad.mit.edu	37	12	75737704	75737704	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:75737704G>T	ENST00000378695.4	+	2	496	c.406G>T	c.(406-408)Ggc>Tgc	p.G136C	CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000312442.2_Missense_Mutation_p.G136C			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	136	SCP.				binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						CAGAGTCTGTGGCCATTATAC	0.333																																					p.G136C		.											.	GLIPR1L1-90	0			c.G406T						.						79.0	78.0	78.0					12																	75737704		2203	4300	6503	SO:0001583	missense	256710	exon2			GTCTGTGGCCATT	BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.406G>T	12.37:g.75737704G>T	ENSP00000367967:p.Gly136Cys	74	0		120	3	NM_152779	0	0	0	0	0	Q96L06	Missense_Mutation	SNP	ENST00000378695.4	37		.	.	.	.	.	.	.	.	.	.	G	15.04	2.713780	0.48622	.	.	ENSG00000173401	ENST00000378695;ENST00000312442	T;T	0.13196	2.61;2.61	4.69	3.79	0.43588	Allergen V5/Tpx-1-related, conserved site (1);CAP domain (3);	0.058355	0.64402	D	0.000002	T	0.54143	0.1840	H	0.98818	4.34	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.71974	-0.4430	10	0.87932	D	0	.	12.579	0.56380	0.0:0.1672:0.8328:0.0	.	136;136	Q6UWM5;Q6UWM5-2	GPRL1_HUMAN;.	C	136	ENSP00000367967:G136C;ENSP00000310770:G136C	ENSP00000310770:G136C	G	+	1	0	GLIPR1L1	74023971	1.000000	0.71417	0.990000	0.47175	0.619000	0.37552	1.644000	0.37228	1.071000	0.40834	0.561000	0.74099	GGC	.		0.333	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405714.1	NM_152779	
GLIPR1L2	144321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	75804245	75804245	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:75804245G>T	ENST00000550916.1	+	2	313	c.266G>T	c.(265-267)aGa>aTa	p.R89I	GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.R89I|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.R89I|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.R24I|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.R89I|GLIPR1L2_ENST00000378692.3_5'UTR	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	89	SCP.					integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						CGGACTGCTAGAGCATGGGGA	0.299																																					p.R89I		.											.	GLIPR1L2-91	0			c.G266T						.						81.0	81.0	81.0					12																	75804245		2202	4299	6501	SO:0001583	missense	144321	exon2			CTGCTAGAGCATG	BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.266G>T	12.37:g.75804245G>T	ENSP00000448248:p.Arg89Ile	131	0		210	49	NM_152436	0	0	0	0	0	Q6MZS1|Q8N6N0|Q8NA43	Missense_Mutation	SNP	ENST00000550916.1	37	CCDS58258.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548791	0.65311	.	.	ENSG00000180481	ENST00000550916;ENST00000435775;ENST00000320460;ENST00000547164;ENST00000441218	T;T;T;T;T	0.08984	3.03;3.03;3.03;3.03;3.03	5.04	3.18	0.36537	CAP domain (3);	0.055575	0.64402	D	0.000001	T	0.24275	0.0588	M	0.78223	2.4	0.46521	D	0.999082	D;D	0.89917	1.0;0.979	D;P	0.74348	0.983;0.817	T	0.00842	-1.1544	10	0.72032	D	0.01	.	7.3251	0.26551	0.2624:0.0:0.7375:0.0	.	89;89	Q4G1C9;Q4G1C9-2	GRPL2_HUMAN;.	I	89;89;89;89;24	ENSP00000448248:R89I;ENSP00000398328:R89I;ENSP00000317385:R89I;ENSP00000447980:R89I;ENSP00000405273:R24I	ENSP00000317385:R89I	R	+	2	0	GLIPR1L2	74090512	0.998000	0.40836	1.000000	0.80357	0.973000	0.67179	0.880000	0.28159	1.340000	0.45581	0.585000	0.79938	AGA	.		0.299	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1	NM_152436	
ZDHHC17	23390	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	77209691	77209691	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:77209691C>A	ENST00000426126.2	+	7	1312	c.663C>A	c.(661-663)gaC>gaA	p.D221E	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.D221E|ZDHHC17_ENST00000359019.4_Missense_Mutation_p.D171E	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	221					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ACCTTGGTGACAAGTATCACA	0.393																																					p.D221E		.											.	.	0			c.C663A						.						66.0	64.0	65.0					12																	77209691		1874	4100	5974	SO:0001583	missense	23390	exon7			TGGTGACAAGTAT	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.663C>A	12.37:g.77209691C>A	ENSP00000403397:p.Asp221Glu	276	1		417	41	NM_015336	0	0	2	2	0	B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720823	0.89205	.	.	ENSG00000186908	ENST00000426126;ENST00000334822;ENST00000359019;ENST00000550876	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	6.06	6.06	0.98353	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.77438	0.4130	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79704	-0.1692	10	0.87932	D	0	-12.0845	13.7889	0.63128	0.0:0.9304:0.0:0.0696	.	221	Q8IUH5	ZDH17_HUMAN	E	221;221;171;58	ENSP00000403397:D221E;ENSP00000334868:D221E;ENSP00000351913:D171E;ENSP00000449734:D58E	ENSP00000334868:D221E	D	+	3	2	ZDHHC17	75733822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.730000	0.62015	2.880000	0.98712	0.650000	0.86243	GAC	.		0.393	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336	
SLC6A15	55117	broad.mit.edu;bcgsc.ca	37	12	85266932	85266932	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:85266932G>T	ENST00000266682.5	-	7	1584	c.1043C>A	c.(1042-1044)gCa>gAa	p.A348E	SLC6A15_ENST00000551388.1_5'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.A241E|SLC6A15_ENST00000309283.7_Missense_Mutation_p.A56E	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	348					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CACCAATGTTGCCAGGACAGA	0.393																																					p.A348E		.											.	SLC6A15-93	0			c.C1043A						.						143.0	136.0	139.0					12																	85266932		2203	4300	6503	SO:0001583	missense	55117	exon7			AATGTTGCCAGGA	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1043C>A	12.37:g.85266932G>T	ENSP00000266682:p.Ala348Glu	168	2		216	13	NM_182767	0	0	0	0	0	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	CCDS9026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.334612|5.334612	0.95758|0.95758	.|.	.|.	ENSG00000072041|ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000318721;ENST00000552192;ENST00000551818;ENST00000551612|ENST00000551388	T;T;T;T|.	0.80123|.	-1.34;-1.34;-1.34;-1.34|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.097095|.	0.64402|.	D|.	0.000001|.	D|D	0.90885|0.90885	0.7136|0.7136	H|H	0.97962|0.97962	4.115|4.115	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.76071|.	0.987;0.987|.	D|D	0.93752|0.93752	0.7059|0.7059	10|6	0.87932|0.87932	D|D	0|0	.|.	19.8731|19.8731	0.96858|0.96858	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	56;348|.	F8WJN6;Q9H2J7|.	.;S6A15_HUMAN|.	E|K	56;348;64;241;56;64|43	ENSP00000311645:A56E;ENSP00000266682:A348E;ENSP00000450145:A241E;ENSP00000449263:A64E|.	ENSP00000266682:A348E|ENSP00000449619:Q43K	A|Q	-|-	2|1	0|0	SLC6A15|SLC6A15	83791063|83791063	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.990000|0.990000	0.78478|0.78478	9.476000|9.476000	0.97823|0.97823	2.690000|2.690000	0.91761|0.91761	0.591000|0.591000	0.81541|0.81541	GCA|CAA	.		0.393	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767	
DCN	1634	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	91545457	91545457	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:91545457C>A	ENST00000052754.5	-	7	1360	c.859G>T	c.(859-861)Ggg>Tgg	p.G287W	DCN_ENST00000303320.3_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Missense_Mutation_p.G140W|DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Missense_Mutation_p.G140W|DCN_ENST00000552962.1_Missense_Mutation_p.G287W|DCN_ENST00000393155.1_Missense_Mutation_p.G287W|DCN_ENST00000420120.2_Missense_Mutation_p.G178W|DCN_ENST00000228329.5_Missense_Mutation_p.G178W	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	287					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TCTGCCAGCCCACCAGGTACT	0.502																																					p.G287W		.											.	DCN-555	0			c.G859T						.						137.0	110.0	119.0					12																	91545457		2203	4300	6503	SO:0001583	missense	1634	exon7			CCAGCCCACCAGG	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.859G>T	12.37:g.91545457C>A	ENSP00000052754:p.Gly287Trp	114	0		160	17	NM_001920	0	0	8	8	0	Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	CCDS9039.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.955058|4.955058	0.92726|0.92726	.|.	.|.	ENSG00000011465|ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000547568;ENST00000546391|ENST00000550758	T;T;T;T;T;T;T;T|.	0.04862|.	3.54;3.54;3.54;4.18;3.54;3.54;4.18;4.18|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82628|0.82628	0.5078|0.5078	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	T|T	0.83144|0.83144	-0.0107|-0.0107	10|5	0.87932|.	D|.	0|.	.|.	19.5451|19.5451	0.95291|0.95291	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	287;140;178|.	P07585;P07585-3;P07585-2|.	PGS2_HUMAN;.;.|.	W|L	287;178;287;140;287;178;140;140|56	ENSP00000052754:G287W;ENSP00000228329:G178W;ENSP00000376862:G287W;ENSP00000401021:G140W;ENSP00000447654:G287W;ENSP00000413723:G178W;ENSP00000447674:G140W;ENSP00000446530:G140W|.	ENSP00000052754:G287W|.	G|W	-|-	1|2	0|0	DCN|DCN	90069588|90069588	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.960000|0.960000	0.62799|0.62799	7.776000|7.776000	0.85560|0.85560	2.789000|2.789000	0.95967|0.95967	0.591000|0.591000	0.81541|0.81541	GGG|TGG	.		0.502	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507	
DCN	1634	broad.mit.edu	37	12	91546934	91546934	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:91546934C>A	ENST00000052754.5	-	6	1186	c.685G>T	c.(685-687)Gat>Tat	p.D229Y	DCN_ENST00000303320.3_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Missense_Mutation_p.D82Y|DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Missense_Mutation_p.D82Y|DCN_ENST00000552962.1_Missense_Mutation_p.D229Y|DCN_ENST00000393155.1_Missense_Mutation_p.D229Y|DCN_ENST00000420120.2_Missense_Mutation_p.D120Y|DCN_ENST00000228329.5_Missense_Mutation_p.D120Y	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	229					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TTGTTGCCATCAAGATGTAAT	0.353																																					p.D229Y		.											.	DCN-555	0			c.G685T						.						140.0	132.0	135.0					12																	91546934		2203	4300	6503	SO:0001583	missense	1634	exon6			TGCCATCAAGATG	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.685G>T	12.37:g.91546934C>A	ENSP00000052754:p.Asp229Tyr	129	2		146	16	NM_001920	0	0	8	8	0	Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779672	0.90195	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000547568;ENST00000546391	T;T;T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32	5.33	5.33	0.75918	.	0.096890	0.64402	D	0.000001	T	0.67040	0.2851	N	0.25485	0.75	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.80764	0.989;0.992;0.994	T	0.71300	-0.4634	10	0.87932	D	0	.	19.0061	0.92851	0.0:1.0:0.0:0.0	.	229;82;120	P07585;P07585-3;P07585-2	PGS2_HUMAN;.;.	Y	229;120;229;82;229;120;82;82	ENSP00000052754:D229Y;ENSP00000228329:D120Y;ENSP00000376862:D229Y;ENSP00000401021:D82Y;ENSP00000447654:D229Y;ENSP00000413723:D120Y;ENSP00000447674:D82Y;ENSP00000446530:D82Y	ENSP00000052754:D229Y	D	-	1	0	DCN	90071065	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.818000	0.86416	2.497000	0.84241	0.591000	0.81541	GAT	.		0.353	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507	
PLEKHG7	440107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	93149662	93149662	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:93149662G>T	ENST00000344636.3	+	7	736	c.552G>T	c.(550-552)gaG>gaT	p.E184D		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	184							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						ATCTACAGGAGATTATAGTGT	0.358																																					p.E184D		.											.	PLEKHG7-23	0			c.G552T						.						75.0	81.0	79.0					12																	93149662		2203	4300	6503	SO:0001583	missense	440107	exon7			ACAGGAGATTATA	AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"""Pleckstrin homology (PH) domain containing"""	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.552G>T	12.37:g.93149662G>T	ENSP00000344961:p.Glu184Asp	84	0		142	45	NM_001004330	0	0	0	0	0	B2RNR7	Missense_Mutation	SNP	ENST00000344636.3	37	CCDS31873.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080659	0.36758	.	.	ENSG00000187510	ENST00000344636	T	0.68624	-0.34	5.29	3.4	0.38934	Dbl homology (DH) domain (2);	0.148735	0.64402	N	0.000013	T	0.53867	0.1823	L	0.45581	1.43	0.38384	D	0.945215	B	0.23490	0.086	B	0.20955	0.032	T	0.50092	-0.8868	10	0.22109	T	0.4	-28.1763	8.2444	0.31680	0.1424:0.1313:0.7263:0.0	.	184	Q6ZR37	PKHG7_HUMAN	D	184	ENSP00000344961:E184D	ENSP00000344961:E184D	E	+	3	2	PLEKHG7	91673793	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.159000	0.31749	1.178000	0.42870	0.561000	0.74099	GAG	.		0.358	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330	
NR2C1	7181	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	95434275	95434275	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:95434275C>A	ENST00000333003.5	-	10	1560	c.1230G>T	c.(1228-1230)tcG>tcT	p.S410S	NR2C1_ENST00000330677.7_Silent_p.S410S|NR2C1_ENST00000393101.3_Silent_p.S410S|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	410					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AAGAAGGAATCGAAAGTGCCC	0.413																																					p.S410S		.											.	NR2C1-187	0			c.G1230T						.						102.0	86.0	92.0					12																	95434275		2203	4300	6503	SO:0001819	synonymous_variant	7181	exon10			AGGAATCGAAAGT	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1230G>T	12.37:g.95434275C>A		221	0		241	21	NM_001032287	0	0	12	13	1	A8K5K4|Q15625|Q15626	Silent	SNP	ENST00000333003.5	37	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438880	0.25900	.	.	ENSG00000120798	ENST00000551647	.	.	.	6.06	-6.68	0.01778	.	.	.	.	.	T	0.37892	0.1020	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41233	-0.9520	4	.	.	.	.	3.3513	0.07154	0.1453:0.1166:0.4067:0.3314	.	.	.	.	Y	34	.	.	D	-	1	0	NR2C1	93958406	0.882000	0.30256	0.801000	0.32222	0.966000	0.64601	-0.050000	0.11904	-1.106000	0.03008	0.655000	0.94253	GAT	.		0.413	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297	
USP44	84101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	95911959	95911959	+	Missense_Mutation	SNP	C	C	T	rs367906455		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:95911959C>T	ENST00000258499.3	-	6	2398	c.2110G>A	c.(2110-2112)Gat>Aat	p.D704N	USP44_ENST00000537435.2_Missense_Mutation_p.D704N|USP44_ENST00000552440.1_3'UTR|USP44_ENST00000393091.2_Missense_Mutation_p.D704N	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	704					mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GACGAGGTATCAGCGTCTTCA	0.373																																					p.D704N		.											.	USP44-658	0			c.G2110A						.						106.0	106.0	106.0					12																	95911959		2203	4300	6503	SO:0001583	missense	84101	exon6			AGGTATCAGCGTC	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.2110G>A	12.37:g.95911959C>T	ENSP00000258499:p.Asp704Asn	103	0		106	17	NM_032147	0	0	0	0	0	B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287455	0.23478	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000537435	T;T;T	0.04970	3.52;3.52;3.52	5.89	3.74	0.42951	.	0.342131	0.24165	N	0.040954	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39683	-0.9602	10	0.36615	T	0.2	.	10.5262	0.44950	0.0:0.7783:0.0:0.2217	.	704	Q9H0E7	UBP44_HUMAN	N	704	ENSP00000258499:D704N;ENSP00000376806:D704N;ENSP00000442629:D704N	ENSP00000258499:D704N	D	-	1	0	USP44	94436090	0.046000	0.20272	0.829000	0.32907	0.172000	0.22775	1.853000	0.39358	1.507000	0.48752	0.555000	0.69702	GAT	.		0.373	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147	
PRDM4	11108	broad.mit.edu;bcgsc.ca	37	12	108133237	108133237	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:108133237C>A	ENST00000228437.5	-	11	2475	c.2016G>T	c.(2014-2016)aaG>aaT	p.K672N	RP11-864J10.4_ENST00000546714.1_RNA|RP11-864J10.4_ENST00000546829.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	672					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						ACTTAAGATTCTTCTCCCCAG	0.493																																					p.K672N		.											.	PRDM4-154	0			c.G2016T						.						145.0	120.0	128.0					12																	108133237		2203	4300	6503	SO:0001583	missense	11108	exon11			AAGATTCTTCTCC	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.2016G>T	12.37:g.108133237C>A	ENSP00000228437:p.Lys672Asn	142	1		173	20	NM_012406	0	0	32	34	2	Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821988	0.71028	.	.	ENSG00000110851	ENST00000228437	T	0.26067	1.76	5.59	4.69	0.59074	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.091060	0.85682	N	0.000000	T	0.32763	0.0840	M	0.83384	2.64	0.52099	D	0.999949	B	0.21452	0.056	B	0.15052	0.012	T	0.20638	-1.0269	10	0.87932	D	0	.	10.7608	0.46264	0.0:0.7964:0.1329:0.0706	.	672	Q9UKN5	PRDM4_HUMAN	N	672	ENSP00000228437:K672N	ENSP00000228437:K672N	K	-	3	2	PRDM4	106657367	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.321000	0.51999	1.331000	0.45412	0.650000	0.86243	AAG	.		0.493	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406	
SART3	9733	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	108931880	108931880	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:108931880C>G	ENST00000228284.3	-	8	1396	c.1162G>C	c.(1162-1164)Gcc>Ccc	p.A388P	SART3_ENST00000431469.2_Missense_Mutation_p.A388P	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	388					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CTCTCCATGGCCAAGAGGTAC	0.443									Porokeratosis																												p.A388P		.											.	SART3-91	0			c.G1162C						.						111.0	109.0	109.0					12																	108931880		2203	4300	6503	SO:0001583	missense	9733	exon8	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	CCATGGCCAAGAG	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1162G>C	12.37:g.108931880C>G	ENSP00000228284:p.Ala388Pro	85	1		183	41	NM_014706	0	0	8	18	10	A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	C	35	5.559205	0.96514	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000412617;ENST00000546815	T;T;T	0.35048	1.33;1.33;1.33	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.992;0.987;0.987	T	0.66035	-0.6023	10	0.48119	T	0.1	-22.9536	20.8598	0.99761	0.0:1.0:0.0:0.0	.	336;406;388;388	E7EMI4;F8VV04;B7ZKM0;Q15020	.;.;.;SART3_HUMAN	P	388;388;336;406	ENSP00000228284:A388P;ENSP00000414453:A388P;ENSP00000449386:A406P	ENSP00000228284:A388P	A	-	1	0	SART3	107456010	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.763000	0.68818	2.937000	0.99478	0.650000	0.86243	GCC	.		0.443	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1		
ACACB	32	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	109660636	109660636	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:109660636G>T	ENST00000338432.7	+	26	3830	c.3711G>T	c.(3709-3711)gaG>gaT	p.E1237D	ACACB_ENST00000377848.3_Missense_Mutation_p.E1237D|ACACB_ENST00000377854.5_Missense_Mutation_p.E1167D			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1237					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCTCCTACGAGCTGCGGCATA	0.627																																					p.E1237D		.											.	ACACB-98	0			c.G3711T						.						89.0	66.0	73.0					12																	109660636		2203	4300	6503	SO:0001583	missense	32	exon25			CTACGAGCTGCGG	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3711G>T	12.37:g.109660636G>T	ENSP00000341044:p.Glu1237Asp	142	1		135	47	NM_001093	0	0	6	11	5	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566543	0.45694	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.48836	0.8;0.8;0.8	4.96	2.73	0.32206	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	M	0.81942	2.565	0.80722	D	1	B	0.22541	0.071	B	0.33690	0.168	T	0.54589	-0.8271	10	0.56958	D	0.05	.	7.2028	0.25891	0.3642:0.0:0.6358:0.0	.	1237	O00763	ACACB_HUMAN	D	1237;1237;1167;468	ENSP00000341044:E1237D;ENSP00000367079:E1237D;ENSP00000367085:E1167D	ENSP00000341044:E1237D	E	+	3	2	ACACB	108145019	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	1.786000	0.38694	1.228000	0.43614	0.650000	0.86243	GAG	.		0.627	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
TRPV4	59341	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	110230204	110230204	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:110230204G>T	ENST00000418703.2	-	11	1949	c.1855C>A	c.(1855-1857)Ctc>Atc	p.L619I	TRPV4_ENST00000536838.1_Missense_Mutation_p.L585I|TRPV4_ENST00000346520.2_Missense_Mutation_p.L559I|TRPV4_ENST00000537083.1_Missense_Mutation_p.L559I|TRPV4_ENST00000544971.1_Missense_Mutation_p.L512I|TRPV4_ENST00000392719.2_Missense_Mutation_p.L572I|TRPV4_ENST00000261740.2_Missense_Mutation_p.L619I|TRPV4_ENST00000541794.1_Missense_Mutation_p.L572I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	619					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AAGTAGACGAGCAGGAATCGG	0.532																																					p.L619I		.											.	TRPV4-94	0			c.C1855A						.						78.0	75.0	76.0					12																	110230204		2203	4300	6503	SO:0001583	missense	59341	exon12			AGACGAGCAGGAA	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1855C>A	12.37:g.110230204G>T	ENSP00000406191:p.Leu619Ile	107	2		118	28	NM_021625	0	0	1	1	0	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390988	0.82902	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	5.63	4.73	0.59995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.91402	0.7287	M	0.81942	2.565	0.58432	D	0.999997	D;D;D;B;P	0.89917	0.999;1.0;0.999;0.364;0.746	D;D;D;B;P	0.91635	0.996;0.999;0.996;0.343;0.561	D	0.89193	0.3552	10	0.24483	T	0.36	-5.0613	14.0711	0.64861	0.0738:0.0:0.9262:0.0	.	559;619;512;572;585	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	I	619;619;572;559;512;559;572;585	ENSP00000406191:L619I;ENSP00000261740:L619I;ENSP00000376480:L572I;ENSP00000319003:L559I;ENSP00000443611:L512I;ENSP00000442738:L559I;ENSP00000442167:L572I;ENSP00000444336:L585I	ENSP00000261740:L619I	L	-	1	0	TRPV4	108714587	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.422000	0.59854	2.659000	0.90383	0.563000	0.77884	CTC	.		0.532	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625	
HVCN1	84329	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	111098996	111098996	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:111098996C>A	ENST00000356742.5	-	3	1032	c.279G>T	c.(277-279)agG>agT	p.R93S	HVCN1_ENST00000548312.1_Missense_Mutation_p.R93S|HVCN1_ENST00000242607.8_Missense_Mutation_p.R93S|HVCN1_ENST00000439744.2_Missense_Mutation_p.R73S			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	93					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TGAACAGTTTCCTCAACATGC	0.657																																					p.R93S		.											.	HVCN1-91	0			c.G279T						.						53.0	59.0	57.0					12																	111098996		2203	4300	6503	SO:0001583	missense	84329	exon4			CAGTTTCCTCAAC	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.279G>T	12.37:g.111098996C>A	ENSP00000349181:p.Arg93Ser	253	0		301	76	NM_032369	0	0	2	2	0	A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	ENST00000356742.5	37	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	c	15.12	2.739235	0.49045	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744	T;T;T;T	0.49139	0.8;0.79;0.79;0.8	5.41	3.52	0.40303	.	0.246767	0.42420	D	0.000704	T	0.44030	0.1274	M	0.78637	2.42	0.35583	D	0.806467	B;P	0.39480	0.376;0.675	B;B	0.36666	0.122;0.23	T	0.56038	-0.8045	10	0.37606	T	0.19	-25.6133	7.1684	0.25704	0.0:0.6762:0.1307:0.1931	.	93;93	Q96D96;Q96D96-3	HVCN1_HUMAN;.	S	93;93;93;73	ENSP00000449601:R93S;ENSP00000242607:R93S;ENSP00000349181:R93S;ENSP00000412052:R73S	ENSP00000242607:R93S	R	-	3	2	HVCN1	109583379	0.999000	0.42202	1.000000	0.80357	0.631000	0.37964	0.501000	0.22578	1.484000	0.48361	0.558000	0.71614	AGG	.		0.657	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369	
MAP1LC3B2	643246	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	117013934	117013934	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:117013934C>A	ENST00000556529.1	+	1	279	c.187C>A	c.(187-189)Ctc>Atc	p.L63I	MAP1LC3B2_ENST00000306985.4_Missense_Mutation_p.L63I			A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	63					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)				breast(1)|large_intestine(2)|lung(3)	6						CATGAGTGAGCTCATCAAGAT	0.458																																					p.L63I		.											.	MAP1LC3B2-68	0			c.C187A						.						158.0	151.0	154.0					12																	117013934		2203	4300	6503	SO:0001583	missense	643246	exon2			AGTGAGCTCATCA		CCDS41841.1	12q24.22	2014-02-12			ENSG00000171471	ENSG00000171471			34390	protein-coding gene	gene with protein product							Standard	NM_001085481		Approved	ATG8G	uc009zwk.1	A6NCE7		ENST00000556529.1:c.187C>A	12.37:g.117013934C>A	ENSP00000450524:p.Leu63Ile	373	0		424	124	NM_001085481	0	0	247	248	1		Missense_Mutation	SNP	ENST00000556529.1	37	CCDS41841.1	.	.	.	.	.	.	.	.	.	.	c	18.23	3.578312	0.65878	.	.	ENSG00000171471	ENST00000306985;ENST00000556529	T;T	0.51325	0.71;0.71	2.39	2.39	0.29439	.	0.000000	0.64402	U	0.000001	T	0.64907	0.2641	M	0.77103	2.36	0.46678	D	0.999153	D	0.61697	0.99	D	0.69824	0.966	T	0.69390	-0.5158	10	0.87932	D	0	-0.802	10.6017	0.45371	0.0:1.0:0.0:0.0	.	63	A6NCE7	MP3B2_HUMAN	I	63	ENSP00000305059:L63I;ENSP00000450524:L63I	ENSP00000305059:L63I	L	+	1	0	MAP1LC3B2	115498317	1.000000	0.71417	0.814000	0.32528	0.863000	0.49368	2.699000	0.47077	1.376000	0.46267	0.375000	0.23000	CTC	.		0.458	MAP1LC3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413900.1	NM_001085481	
GCN1L1	10985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	120567240	120567240	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:120567240G>T	ENST00000300648.6	-	57	7742	c.7730C>A	c.(7729-7731)gCa>gAa	p.A2577E		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2577					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCTTATTTGCCCACCAGAT	0.537																																					p.A2577E		.											.	GCN1L1-94	0			c.C7730A						.						180.0	183.0	182.0					12																	120567240		1978	4138	6116	SO:0001583	missense	10985	exon57			TTATTTGCCCACC	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7730C>A	12.37:g.120567240G>T	ENSP00000300648:p.Ala2577Glu	131	0		112	14	NM_006836	0	0	54	68	14	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227655	0.58668	.	.	ENSG00000089154	ENST00000300648	T	0.32988	1.43	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.063875	0.64402	D	0.000007	T	0.36138	0.0956	L	0.60455	1.87	0.58432	D	0.999992	B	0.20780	0.048	B	0.17979	0.02	T	0.11372	-1.0590	10	0.56958	D	0.05	-8.8637	19.6809	0.95962	0.0:0.0:1.0:0.0	.	2577	Q92616	GCN1L_HUMAN	E	2577	ENSP00000300648:A2577E	ENSP00000300648:A2577E	A	-	2	0	GCN1L1	119051623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.943000	0.75934	2.644000	0.89710	0.655000	0.94253	GCA	.		0.537	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
SIRT4	23409	broad.mit.edu	37	12	120750304	120750304	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:120750304G>T	ENST00000202967.4	+	3	602	c.543G>T	c.(541-543)ctG>ctT	p.L181L	RNU6-1088P_ENST00000516850.1_RNA|SIRT4_ENST00000537892.1_Intron	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGGGTGCTGCAAGAGCGTT	0.592																																					p.L181L		.											.	SIRT4-226	0			c.G543T						.						79.0	83.0	82.0					12																	120750304		2203	4300	6503	SO:0001819	synonymous_variant	23409	exon3			GGTGCTGCAAGAG	AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.543G>T	12.37:g.120750304G>T		56	0		78	5	NM_012240	0	0	14	14	0		Silent	SNP	ENST00000202967.4	37	CCDS9194.1																																																																																			.		0.592	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240	
MLXIP	22877	bcgsc.ca	37	12	122623075	122623075	+	Silent	SNP	C	C	A	rs370845887		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:122623075C>A	ENST00000319080.7	+	14	2493	c.2361C>A	c.(2359-2361)atC>atA	p.I787I	MLXIP_ENST00000538698.1_Silent_p.I394I					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GGGAGGAGATCGAGGAGCTCA	0.632																																					p.I787I	Esophageal Squamous(105;787 1493 16200 18566 52466)	.											.	MLXIP-92	0			c.C2361A						.						27.0	34.0	31.0					12																	122623075		2180	4275	6455	SO:0001819	synonymous_variant	22877	exon14			GGAGATCGAGGAG	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.2361C>A	12.37:g.122623075C>A		138	2		196	16	NM_014938	0	0	14	15	1		Silent	SNP	ENST00000319080.7	37		.	.	.	.	.	.	.	.	.	.	C	10.69	1.422433	0.25639	.	.	ENSG00000175727	ENST00000542417	.	.	.	5.03	-1.04	0.10068	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-28.4368	7.0227	0.24922	0.0:0.469:0.1157:0.4153	.	.	.	.	X	123	.	.	S	+	2	0	MLXIP	121189028	0.050000	0.20438	0.997000	0.53966	0.972000	0.66771	-0.672000	0.05244	-0.082000	0.12640	-0.258000	0.10820	TCG	.		0.632	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938	
SBNO1	55206	broad.mit.edu	37	12	123782680	123782680	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:123782680C>A	ENST00000602398.1	-	31	4011	c.3884G>T	c.(3883-3885)tGt>tTt	p.C1295F	SBNO1_ENST00000602750.1_Missense_Mutation_p.C1294F|SBNO1_ENST00000420886.2_Missense_Mutation_p.C1295F|SBNO1_ENST00000267176.4_Missense_Mutation_p.C1294F			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1295					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ACCTATTTCACAAACTAGCCC	0.413																																					p.C1295F		.											.	SBNO1-292	0			c.G3884T						.						105.0	93.0	97.0					12																	123782680		2203	4300	6503	SO:0001583	missense	55206	exon30			ATTTCACAAACTA	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3884G>T	12.37:g.123782680C>A	ENSP00000473665:p.Cys1295Phe	99	1		113	7	NM_001167856	0	0	29	29	0	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273554	0.80580	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	D;D	0.83992	-1.79;-1.79	6.03	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.87422	0.6173	M	0.89904	3.07	0.80722	D	1	P;P	0.44195	0.736;0.828	B;B	0.41988	0.205;0.372	D	0.90341	0.4359	10	0.87932	D	0	-11.1563	17.4903	0.87701	0.0:0.8765:0.1235:0.0	.	1295;1294	A3KN83;A3KN83-2	SBNO1_HUMAN;.	F	1295;1294	ENSP00000387361:C1295F;ENSP00000267176:C1294F	ENSP00000267176:C1294F	C	-	2	0	SBNO1	122348633	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	6.034000	0.70933	2.880000	0.98712	0.650000	0.86243	TGT	.		0.413	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183	
DNAH10	196385	broad.mit.edu;ucsc.edu	37	12	124256213	124256213	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:124256213G>T	ENST00000409039.3	+	3	206	c.181G>T	c.(181-183)Gac>Tac	p.D61Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	61	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAAGAAATGGACAAAGAGAT	0.443																																					p.D61Y		.											.	DNAH10-95	0			c.G181T						.						85.0	78.0	80.0					12																	124256213		1853	4089	5942	SO:0001583	missense	196385	exon3			GAAATGGACAAAG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.181G>T	12.37:g.124256213G>T	ENSP00000386770:p.Asp61Tyr	98	2		89	10	NM_207437	0	0	0	0	0	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.185655	0.00305	.	.	ENSG00000197653	ENST00000409039	T	0.23552	1.9	3.85	0.692	0.18050	.	.	.	.	.	T	0.13157	0.0319	N	0.08118	0	0.09310	N	1	B	0.22003	0.063	B	0.19391	0.025	T	0.25779	-1.0122	9	0.56958	D	0.05	.	9.0367	0.36291	0.0:0.2923:0.561:0.1467	.	61	Q8IVF4	DYH10_HUMAN	Y	61	ENSP00000386770:D61Y	ENSP00000386770:D61Y	D	+	1	0	DNAH10	122822166	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.037000	0.12164	-0.249000	0.09569	-1.273000	0.01405	GAC	.		0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	124317840	124317840	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:124317840G>T	ENST00000409039.3	+	26	4396	c.4371G>T	c.(4369-4371)ctG>ctT	p.L1457L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1457	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCCTTTTCTGCAAACTGTTC	0.428																																					p.L1457L		.											.	DNAH10-95	0			c.G4371T						.						63.0	60.0	61.0					12																	124317840		1872	4107	5979	SO:0001819	synonymous_variant	196385	exon26			TTTTCTGCAAACT	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4371G>T	12.37:g.124317840G>T		180	1		191	40	NM_207437	0	0	0	0	0	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																			.		0.428	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	124399087	124399087	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:124399087G>T	ENST00000409039.3	+	60	10235	c.10210G>T	c.(10210-10212)Gag>Tag	p.E3404*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3404	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGATGATGTTGAGATCAGCAG	0.602																																					p.E3404X		.											.	DNAH10-95	0			c.G10210T						.						32.0	35.0	34.0					12																	124399087		2034	4176	6210	SO:0001587	stop_gained	196385	exon60			GATGTTGAGATCA	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10210G>T	12.37:g.124399087G>T	ENSP00000386770:p.Glu3404*	64	0		77	13	NM_207437	0	0	0	0	0	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	50|50	16.803823|16.803823	0.99872|0.99872	.|.	.|.	ENSG00000197653|ENSG00000197653	ENST00000409039|ENST00000540041	.|.	.|.	.|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74612	.|0.3739	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74031	.|-0.3795	.|3	0.12103|.	T|.	0.63|.	.|.	18.596|18.596	0.91229|0.91229	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|F	3404|331	.|.	ENSP00000386770:E3404X|.	E|L	+|+	1|3	0|2	DNAH10|DNAH10	122965040|122965040	1.000000|1.000000	0.71417|0.71417	0.941000|0.941000	0.38009|0.38009	0.328000|0.328000	0.28507|0.28507	9.553000|9.553000	0.98118|0.98118	2.361000|2.361000	0.80049|0.80049	0.561000|0.561000	0.74099|0.74099	GAG|TTG	.		0.602	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DHX37	57647	broad.mit.edu;bcgsc.ca	37	12	125448959	125448959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:125448959C>A	ENST00000308736.2	-	15	2124	c.2026G>T	c.(2026-2028)Gag>Tag	p.E676*	DHX37_ENST00000544745.1_Nonsense_Mutation_p.E463*	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	676	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGGCCGGGCTCCGTCCGTCCT	0.637																																					p.E676X		.											.	DHX37-227	0			c.G2026T						.						68.0	67.0	67.0					12																	125448959		2203	4300	6503	SO:0001587	stop_gained	57647	exon15			CGGGCTCCGTCCG	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2026G>T	12.37:g.125448959C>A	ENSP00000311135:p.Glu676*	93	0		70	6	NM_032656	0	0	1	1	0	Q9BUI7|Q9P211	Nonsense_Mutation	SNP	ENST00000308736.2	37	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	39	7.587278	0.98374	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-15.0749	18.2623	0.90039	0.0:1.0:0.0:0.0	.	.	.	.	X	676;463	.	ENSP00000311135:E676X	E	-	1	0	DHX37	124014912	1.000000	0.71417	0.989000	0.46669	0.872000	0.50106	5.699000	0.68310	2.419000	0.82065	0.462000	0.41574	GAG	.		0.637	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656	
TMEM132C	92293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	129028583	129028583	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:129028583C>A	ENST00000435159.2	+	3	1056	c.1056C>A	c.(1054-1056)ggC>ggA	p.G352G	TMEM132C_ENST00000315208.8_5'UTR	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	352						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						AGGAGGTGGGCAGCGGCGGAA	0.667																																					p.G352G		.											.	TMEM132C-68	0			c.C1056A						.						31.0	42.0	39.0					12																	129028583		692	1591	2283	SO:0001819	synonymous_variant	92293	exon3			GGTGGGCAGCGGC	AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.1056C>A	12.37:g.129028583C>A		131	0		258	108	NM_001136103	0	0	0	0	0	Q69YX8	Silent	SNP	ENST00000435159.2	37																																																																																				.		0.667	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_044062	
TMEM132D	121256	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	129559056	129559056	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:129559056G>T	ENST00000422113.2	-	9	2990	c.2664C>A	c.(2662-2664)ttC>ttA	p.F888L	TMEM132D_ENST00000389441.4_Missense_Mutation_p.F426L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	888					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCTGGGCTGGGAAGCTGGTGA	0.537																																					p.F888L		.											.	TMEM132D-106	0			c.C2664A						.						91.0	86.0	88.0					12																	129559056		2203	4300	6503	SO:0001583	missense	121256	exon9			GGCTGGGAAGCTG	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2664C>A	12.37:g.129559056G>T	ENSP00000408581:p.Phe888Leu	78	1		66	26	NM_133448	0	0	0	0	0	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210777	0.39102	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.10477	2.87;3.65	4.07	4.07	0.47477	.	0.000000	0.64402	D	0.000003	T	0.15869	0.0382	M	0.76002	2.32	0.47214	D	0.999355	P;B	0.49559	0.925;0.016	B;B	0.43889	0.435;0.02	T	0.01810	-1.1269	9	.	.	.	-18.1583	10.3528	0.43945	0.093:0.0:0.907:0.0	.	888;426	Q14C87;Q14C87-2	T132D_HUMAN;.	L	426;888	ENSP00000374092:F426L;ENSP00000408581:F888L	.	F	-	3	2	TMEM132D	128125009	1.000000	0.71417	0.998000	0.56505	0.692000	0.40212	2.430000	0.44766	1.967000	0.57214	0.313000	0.20887	TTC	.		0.537	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
EP400NL	347918	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	132599038	132599038	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:132599038G>T	ENST00000376625.4	+	3	1457	c.1431G>T	c.(1429-1431)gtG>gtT	p.V477V	EP400NL_ENST00000361109.5_Nonstop_Mutation_p.*346L			Q6ZTU2	E400N_HUMAN	EP400 N-terminal like	477										endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						CTGGAGATGTGAATTCCATAA	0.403																																					.		.											.	.	0			.						.						90.0	82.0	84.0					12																	132599038		692	1591	2283	SO:0001819	synonymous_variant	347918	.			AGATGTGAATTCC	AK091234		12q24.33	2013-02-15			ENSG00000185684	ENSG00000185684			26602	protein-coding gene	gene with protein product						12477932	Standard	NR_003290		Approved	FLJ33915	uc009zyq.3	Q6ZTU2	OTTHUMG00000168251	ENST00000376625.4:c.1431G>T	12.37:g.132599038G>T		119	0		115	42	.	0	0	0	0	0	A6NLB7|A8K0Z5|B3KQY2|Q6NXP1|Q8N253|Q8N7S7|Q9UFJ3	RNA	SNP	ENST00000376625.4	37		.	.	.	.	.	.	.	.	.	.	G	2.210	-0.380973	0.05000	.	.	ENSG00000185684	ENST00000361109	.	.	.	2.22	2.22	0.28083	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8195	0.23849	0.14:0.0:0.86:0.0	.	.	.	.	L	346	.	.	X	+	2	2	EP400NL	131164991	0.731000	0.28111	0.008000	0.14137	0.142000	0.21351	0.014000	0.13333	0.731000	0.32448	0.462000	0.41574	TGA	.		0.403	EP400NL-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_182613	
PARP4	143	hgsc.bcm.edu;broad.mit.edu	37	13	25016806	25016806	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:25016806C>A	ENST00000381989.3	-	29	3570	c.3465G>T	c.(3463-3465)ttG>ttT	p.L1155F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1155					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCAGAGATTTCAAGGTTTGTT	0.289																																					p.L1155F		.											.	PARP4-94	0			c.G3465T						.						62.0	65.0	64.0					13																	25016806		2200	4295	6495	SO:0001583	missense	143	exon29			AGATTTCAAGGTT	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3465G>T	13.37:g.25016806C>A	ENSP00000371419:p.Leu1155Phe	116	0		105	6	NM_006437	0	0	15	15	0	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	c	16.94	3.260156	0.59321	.	.	ENSG00000102699	ENST00000381989	T	0.63913	-0.07	4.65	2.72	0.32119	.	0.203527	0.32416	N	0.006131	T	0.66066	0.2752	L	0.55834	1.745	0.33050	D	0.532609	D	0.60160	0.987	P	0.59825	0.864	T	0.71464	-0.4585	10	0.66056	D	0.02	-5.675	5.5167	0.16910	0.0:0.6636:0.0:0.3364	.	1155	Q9UKK3	PARP4_HUMAN	F	1155	ENSP00000371419:L1155F	ENSP00000371419:L1155F	L	-	3	2	PARP4	23914806	1.000000	0.71417	0.958000	0.39756	0.980000	0.70556	2.344000	0.44010	0.459000	0.27016	0.650000	0.86243	TTG	.		0.289	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	
ATP8A2	51761	broad.mit.edu	37	13	26411330	26411330	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:26411330G>T	ENST00000381655.2	+	29	2926	c.2784G>T	c.(2782-2784)ctG>ctT	p.L928L	ATP8A2_ENST00000255283.8_Silent_p.L863L|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	888					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CCTTCACTCTGGGAATCTTTG	0.498																																					p.L928L		.											.	ATP8A2-138	0			c.G2784T						.						122.0	118.0	119.0					13																	26411330		1901	4123	6024	SO:0001819	synonymous_variant	51761	exon29			CACTCTGGGAATC	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2784G>T	13.37:g.26411330G>T		87	2		79	19	NM_016529	0	0	0	1	1	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	ENST00000381655.2	37	CCDS41873.1																																																																																			.		0.498	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	
B3GALTL	145173	bcgsc.ca	37	13	31843387	31843387	+	Silent	SNP	C	C	A	rs375641560		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:31843387C>A	ENST00000343307.4	+	8	782	c.633C>A	c.(631-633)tcC>tcA	p.S211S	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	211					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CCTTGAAATCCGACTTTACAA	0.294																																					p.S211S		.											.	B3GALTL-92	0			c.C633A						.						70.0	69.0	69.0					13																	31843387		2201	4298	6499	SO:0001819	synonymous_variant	145173	exon8			GAAATCCGACTTT	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.633C>A	13.37:g.31843387C>A		42	2		33	32	NM_194318	0	0	1	1	0	A8K5F8|Q5W0H2|Q6NUI3	Silent	SNP	ENST00000343307.4	37	CCDS9341.1																																																																																			.		0.294	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318	
PDS5B	23047	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	33316808	33316808	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:33316808G>T	ENST00000315596.10	+	23	2741	c.2555G>T	c.(2554-2556)aGa>aTa	p.R852I		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	852					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TCTACCTTAAGATTGCTAACA	0.338																																					p.R852I		.											.	PDS5B-94	0			c.G2555T						.						138.0	130.0	133.0					13																	33316808		1861	4114	5975	SO:0001583	missense	23047	exon23			CCTTAAGATTGCT	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2555G>T	13.37:g.33316808G>T	ENSP00000313851:p.Arg852Ile	104	0		73	32	NM_015032	0	0	2	3	1	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116185	0.94339	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.84	5.84	0.93424	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82632	0.5079	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81404	-0.0948	9	0.46703	T	0.11	-19.6451	20.1294	0.97995	0.0:0.0:1.0:0.0	.	852	Q9NTI5	PDS5B_HUMAN	I	852	.	ENSP00000313851:R852I	R	+	2	0	PDS5B	32214808	1.000000	0.71417	0.993000	0.49108	0.842000	0.47809	9.756000	0.98918	2.758000	0.94735	0.591000	0.81541	AGA	.		0.338	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032	
ENOX1	55068	ucsc.edu	37	13	43986176	43986176	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:43986176C>A	ENST00000261488.6	-	5	661	c.84G>T	c.(82-84)ttG>ttT	p.L28F	ENOX1_ENST00000412891.1_Missense_Mutation_p.L28F	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	28					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CTATACTCCCCAAACCATCGG	0.478																																					p.L28F		.											.	ENOX1-92	0			c.G84T						.						112.0	101.0	105.0					13																	43986176		2203	4300	6503	SO:0001583	missense	55068	exon5			ACTCCCCAAACCA	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.84G>T	13.37:g.43986176C>A	ENSP00000261488:p.Leu28Phe	115	2		88	9	NM_017993	0	0	0	0	0	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679285	0.47886	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.47528	0.84;0.84	5.62	5.62	0.85841	.	0.277781	0.32357	N	0.006204	T	0.32285	0.0824	N	0.14661	0.345	0.80722	D	1	D	0.54964	0.969	B	0.42959	0.403	T	0.05716	-1.0868	10	0.28530	T	0.3	-1.7691	13.915	0.63893	0.152:0.848:0.0:0.0	.	28	Q8TC92	ENOX1_HUMAN	F	28	ENSP00000261488:L28F;ENSP00000415054:L28F	ENSP00000261488:L28F	L	-	3	2	ENOX1	42884176	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.290000	0.33319	2.809000	0.96659	0.467000	0.42956	TTG	.		0.478	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993	
TPT1-AS1	100190939	bcgsc.ca	37	13	45964930	45964930	+	RNA	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:45964930C>A	ENST00000517509.1	+	0	1074				TPT1-AS1_ENST00000519454.1_RNA|TPT1-AS1_ENST00000522673.1_RNA|TPT1-AS1_ENST00000520585.1_RNA	NR_024458.1				TPT1 antisense RNA 1																		GAGTAGCTGTCAGGTCACCAT	0.463																																					.		.											.	.	0			.						.																																					100190939	.			AGCTGTCAGGTCA	AF318337		13q14.13	2012-10-12	2012-08-15		ENSG00000170919	ENSG00000170919		"""Long non-coding RNAs"""	43686	non-coding RNA	RNA, long non-coding			"""TPT1 antisense RNA 1 (non-protein coding)"""				Standard	NR_024458		Approved		uc021rjh.1		OTTHUMG00000016851		13.37:g.45964930C>A		202	4		215	40	.	0	0	12	19	7		RNA	SNP	ENST00000517509.1	37																																																																																				.		0.463	TPT1-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000374919.1	NR_024458	
UTP14C	9724	broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	52604696	52604696	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:52604696G>T	ENST00000521776.2	+	2	2489	c.1756G>T	c.(1756-1758)Gag>Tag	p.E586*		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	586					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GGAAGATGAAGAGGAGAGAGA	0.473																																					p.E586X		.											.	UTP14C-138	0			c.G1756T						.						94.0	96.0	95.0					13																	52604696		2203	4300	6503	SO:0001587	stop_gained	9724	exon2			GATGAAGAGGAGA	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1756G>T	13.37:g.52604696G>T	ENSP00000428619:p.Glu586*	244	3		224	88	NM_021645	0	0	3	4	1	Q5FWG3|Q92555	Nonsense_Mutation	SNP	ENST00000521776.2	37	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	G	41	8.983616	0.99025	.	.	ENSG00000253797	ENST00000521776	.	.	.	2.77	-0.343	0.12632	.	0.591633	0.18774	N	0.131533	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.7248	4.0447	0.09768	0.2598:0.1981:0.5421:0.0	.	.	.	.	X	586	.	.	E	+	1	0	UTP14C	51502697	0.998000	0.40836	0.102000	0.21198	0.890000	0.51754	5.559000	0.67326	-0.268000	0.09312	0.455000	0.32223	GAG	.		0.473	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645	
THSD1	55901	bcgsc.ca	37	13	52951587	52951587	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:52951587C>A	ENST00000258613.4	-	5	2696	c.2518G>T	c.(2518-2520)Gaa>Taa	p.E840*	THSD1_ENST00000349258.4_Nonsense_Mutation_p.E787*|THSD1_ENST00000544466.1_Nonsense_Mutation_p.E461*	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	840					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTTGTGGTTTCATCCTCTTCA	0.493																																					p.E840X		.											.	THSD1-94	0			c.G2518T						.						19.0	19.0	19.0					13																	52951587		2203	4296	6499	SO:0001587	stop_gained	55901	exon5			TGGTTTCATCCTC	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.2518G>T	13.37:g.52951587C>A	ENSP00000258613:p.Glu840*	406	4		317	32	NM_018676	0	0	4	4	0	A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Nonsense_Mutation	SNP	ENST00000258613.4	37	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	C	42	9.248773	0.99113	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	.	.	.	5.67	5.67	0.87782	.	0.058783	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.9585	19.1179	0.93350	0.0:1.0:0.0:0.0	.	.	.	.	X	787;461;840	.	ENSP00000258613:E840X	E	-	1	0	THSD1	51849588	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	6.246000	0.72405	2.834000	0.97654	0.508000	0.49915	GAA	.		0.493	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3		
PCDH9	5101	ucsc.edu;bcgsc.ca	37	13	67800034	67800034	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:67800034C>A	ENST00000377865.2	-	1	2673	c.2539G>T	c.(2539-2541)Gct>Tct	p.A847S	PCDH9_ENST00000456367.1_Missense_Mutation_p.A847S|PCDH9_ENST00000544246.1_Missense_Mutation_p.A847S|PCDH9_ENST00000377861.3_Missense_Mutation_p.A847S|PCDH9_ENST00000328454.5_Missense_Mutation_p.A847S			Q9HC56	PCDH9_HUMAN	protocadherin 9	847					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTCCTCTGAGCTGCTTTGAAC	0.488																																					p.A847S		.											.	PCDH9-96	0			c.G2539T						.						131.0	122.0	125.0					13																	67800034		2203	4300	6503	SO:0001583	missense	5101	exon2			TCTGAGCTGCTTT	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2539G>T	13.37:g.67800034C>A	ENSP00000367096:p.Ala847Ser	178	3		138	28	NM_203487	0	0	0	0	0	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736781	0.30774	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.93	5.93	0.95920	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	L	0.31926	0.97	0.80722	D	1	P;P;P;P	0.42456	0.78;0.78;0.739;0.605	B;B;B;B	0.42138	0.377;0.377;0.259;0.264	T	0.00970	-1.1496	10	0.28530	T	0.3	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	847;847;847;847	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	S	847	ENSP00000442186:A847S;ENSP00000367096:A847S;ENSP00000401699:A847S;ENSP00000332060:A847S;ENSP00000367092:A847S	ENSP00000332060:A847S	A	-	1	0	PCDH9	66698035	1.000000	0.71417	0.830000	0.32933	0.909000	0.53808	7.818000	0.86416	2.814000	0.96858	0.655000	0.94253	GCT	.		0.488	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
GPR183	1880	broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	99947317	99947317	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:99947317C>G	ENST00000376414.4	-	2	1166	c.1083G>C	c.(1081-1083)aaG>aaC	p.K361N	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	361					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						ATCCATTTCACTTTCCATTTG	0.363																																					p.K361N		.											.	GPR183-522	0			c.G1083C						.						83.0	85.0	84.0					13																	99947317		2202	4300	6502	SO:0001583	missense	1880	exon2			ATTTCACTTTCCA	L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"""GPCR / Class A : Orphans"""	3128	protein-coding gene	gene with protein product	"""EBV-induced G-protein coupled receptor 2"""	605741	"""Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"""	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.1083G>C	13.37:g.99947317C>G	ENSP00000365596:p.Lys361Asn	140	1		102	35	NM_004951	0	0	5	5	0	B2R8N5|Q53F99|Q5JUH7	Missense_Mutation	SNP	ENST00000376414.4	37	CCDS9492.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.349705	0.24426	.	.	ENSG00000169508	ENST00000376414	T	0.56611	0.45	5.8	0.0641	0.14351	.	0.617850	0.16867	N	0.196270	T	0.24928	0.0605	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.16305	-1.0407	9	.	.	.	.	5.9438	0.19207	0.0:0.5436:0.1208:0.3356	.	361	P32249	GP183_HUMAN	N	361	ENSP00000365596:K361N	.	K	-	3	2	GPR183	98745318	0.983000	0.35010	0.231000	0.23993	0.909000	0.53808	1.128000	0.31369	-0.337000	0.08426	0.650000	0.86243	AAG	.		0.363	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951	
LINC00283	100874057	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	13	103399003	103399003	+	RNA	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:103399003C>A	ENST00000430111.1	+	0	3894									long intergenic non-protein coding RNA 283																		TCTTTTTCATCACTTTAGAAC	0.383																																					p.V1348V		.											.	.	0			c.G4044T						.						159.0	133.0	141.0					13																	103399003		692	1591	2283			643677	exon4			TTTCATCACTTTA			13q33.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000231633	ENSG00000231633		"""Long non-coding RNAs"""	38809	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 283"""	NCRNA00283			Standard			Approved				OTTHUMG00000017311		13.37:g.103399003C>A		59	0		81	15	NM_001146197	0	0	0	0	0		Silent	SNP	ENST00000430111.1	37																																																																																				.		0.383	LINC00283-001	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000045714.1		
ING1	3621	hgsc.bcm.edu	37	13	111368316	111368316	+	Silent	SNP	C	C	T	rs9555726	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:111368316C>T	ENST00000375774.3	+	1	988	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	ING1_ENST00000375775.3_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000333219.7_Intron|ING1_ENST00000464141.1_Intron|ING1_ENST00000338450.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	176					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGCCGCATCTCTGCTGACCCG	0.706													C|||	2912	0.58147	0.23	0.6816	5008	,	,		11066	0.7252		0.6909	False		,,,				2504	0.7249				p.L176L		.											.	ING1-515	0			c.C526T						.	C	,,,	1347,2085		295,757,664	14.0	24.0	21.0		526,,,	-5.6	0.0	13	dbSNP_119	21	5238,1736		2020,1198,269	no	coding-synonymous,intron,intron,intron	ING1	NM_005537.3,NM_198217.1,NM_198218.1,NM_198219.1	,,,	2315,1955,933	TT,TC,CC		24.8925,39.2483,36.7192	,,,	176/423,,,	111368316	6585,3821	1716	3487	5203	SO:0001819	synonymous_variant	3621	exon1			GCATCTCTGCTGA		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.526C>T	13.37:g.111368316C>T		0	0		10	10	NM_005537	0	0	0	0	0	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	ENST00000375774.3	37	CCDS9517.1																																																																																			C|0.372;T|0.628		0.706	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537	
CUL4A	8451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	113909353	113909353	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:113909353G>T	ENST00000375440.4	+	18	2029	c.1945G>T	c.(1945-1947)Gaa>Taa	p.E649*	CUL4A_ENST00000375441.3_Nonsense_Mutation_p.E549*|CUL4A_ENST00000326335.4_Nonsense_Mutation_p.E549*|CUL4A_ENST00000451881.1_Nonsense_Mutation_p.E549*	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	649					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AAAGGAAGTGGAAGATGGAGA	0.408																																					p.E649X		.											.	CUL4A-651	0			c.G1945T						.						103.0	105.0	104.0					13																	113909353		2203	4300	6503	SO:0001587	stop_gained	8451	exon18			GAAGTGGAAGATG	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1945G>T	13.37:g.113909353G>T	ENSP00000364589:p.Glu649*	230	0		270	94	NM_001008895	0	0	13	14	1	A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Nonsense_Mutation	SNP	ENST00000375440.4	37	CCDS41908.1	.	.	.	.	.	.	.	.	.	.	G	39	7.535203	0.98342	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	.	.	.	4.99	4.14	0.48551	.	0.103439	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-36.96	13.5536	0.61747	0.0762:0.0:0.9238:0.0	.	.	.	.	X	549;549;549;649	.	ENSP00000322132:E549X	E	+	1	0	CUL4A	112957354	1.000000	0.71417	0.077000	0.20336	0.117000	0.20001	9.234000	0.95347	1.208000	0.43306	0.462000	0.41574	GAA	.		0.408	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589	
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																					p.L91L		.											.	UPF3A-91	8	Substitution - coding silent(8)	lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)	c.C271T						.						4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110	exon2			CGCCCGCTGCCAG	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T		22	0		49	6	NM_080687	0	0	7	7	0	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	CCDS9543.1																																																																																			.		0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2		
OR4K15	81127	broad.mit.edu	37	14	20443680	20443680	+	Start_Codon_SNP	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:20443680G>T	ENST00000305051.5	+	1	78	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCAAACCCATGCTCACTTCAT	0.363																																					p.M1I		.											.	OR4K15-69	0			c.G3T						.						51.0	52.0	52.0					14																	20443680		2203	4299	6502	SO:0001582	initiator_codon_variant	81127	exon1			ACCCATGCTCACT		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.3G>T	14.37:g.20443680G>T	ENSP00000304077:p.Met1Ile	57	2		76	19	NM_001005486	0	0	0	0	0	B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-2.016358	0.00418	.	.	ENSG00000169488	ENST00000305051	T	0.14766	2.48	3.05	-0.0839	0.13692	.	.	.	.	.	T	0.05456	0.0144	.	.	.	0.23731	N	0.996998	B	0.02656	0.0	B	0.01281	0.0	T	0.43829	-0.9367	8	0.14252	T	0.57	.	2.3306	0.04234	0.3869:0.0:0.362:0.2511	.	1	Q8NH41	OR4KF_HUMAN	I	1	ENSP00000304077:M1I	ENSP00000304077:M1I	M	+	3	0	OR4K15	19513520	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-3.426000	0.00475	0.120000	0.18254	-0.373000	0.07131	ATG	.		0.363	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1		Missense_Mutation
ZNF219	51222	hgsc.bcm.edu	37	14	21560753	21560758	+	In_Frame_Del	DEL	GAGGCT	GAGGCT	-	rs71794845|rs11278664|rs3841049	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	GAGGCT	GAGGCT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:21560753_21560758delGAGGCT	ENST00000360947.3	-	3	1109_1114	c.698_703delAGCCTC	c.(697-705)cagcctcca>cca	p.QP233del	RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000421093.2_In_Frame_Del_p.QP233del|ZNF219_ENST00000556101.1_5'Flank|ZNF219_ENST00000451119.2_In_Frame_Del_p.QP233del	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	233				Missing (in Ref. 4; AAH00694). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q233_P234delQP(3)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ggctggggtggaggctgaggctgagg	0.743											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1230	0.245607	0.2549	0.3775	5008	,	,		14407	0.125		0.1879	False		,,,				2504	0.3231				p.233_235del		.											.	ZNF219-90	3	Deletion - In frame(3)	large_intestine(1)|prostate(1)|breast(1)	c.698_703del						.		,,	821,2789		238,345,1222					,,	2.7	1.0		dbSNP_107	4	1173,6075		279,615,2730	no	coding,coding,coding	ZNF219	NM_016423.2,NM_001102454.1,NM_001101672.1	,,	517,960,3952	A1A1,A1R,RR		16.1838,22.7424,18.3643	,,	,,		1994,8864				SO:0001651	inframe_deletion	51222	exon3			GGGGTGGAGGCTG	AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"""Zinc fingers, C2H2-type"""	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.698_703delAGCCTC	14.37:g.21560759_21560764delGAGGCT	ENSP00000354206:p.Gln233_Pro234del	1	0	749	42	19	NM_001102454	0	0	0	0	0	D3DS16|Q53Y57|Q8IYC1|Q9BW28	In_Frame_Del	DEL	ENST00000360947.3	37	CCDS9568.1																																																																																			.		0.743	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2		
CDH24	64403	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	23521682	23521682	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:23521682C>A	ENST00000267383.5	-	7	1455	c.1363G>T	c.(1363-1365)Ggc>Tgc	p.G455C	CDH24_ENST00000487137.2_Splice_Site_p.D455Y|CDH24_ENST00000554034.1_Splice_Site_p.D455Y|CDH24_ENST00000397359.3_Splice_Site_p.G455C|CDH24_ENST00000485922.1_5'Flank			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	455	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GAGTCCTCACCGAGCTCTGTA	0.652																																					p.G455C		.											.	CDH24-90	0			c.G1363T						.						38.0	37.0	38.0					14																	23521682		2203	4300	6503	SO:0001630	splice_region_variant	64403	exon8			CCTCACCGAGCTC	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1363+1G>T	14.37:g.23521682C>A		62	0		120	12	NM_022478	0	0	0	3	3	D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	CCDS9585.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.09|16.09	3.024197|3.024197	0.54683|0.54683	.|.	.|.	ENSG00000139880|ENSG00000139880	ENST00000487137;ENST00000554034|ENST00000397359;ENST00000267383	T;T|T;T	0.62105|0.28895	0.05;0.05|1.59;1.59	4.83|4.83	4.83|4.83	0.62350|0.62350	.|Cadherin (2);Cadherin-like (1);	.|0.930806	.|0.08980	.|N	.|0.865922	T|T	0.45377|0.45377	0.1339|0.1339	N|N	0.25992|0.25992	0.78|0.78	0.58432|0.58432	D|D	0.999993|0.999993	D|P;D	0.89917|0.89917	1.0|0.916;1.0	D|P;D	0.81914|0.73380	0.995|0.856;0.98	T|T	0.18209|0.18209	-1.0344|-1.0344	8|9	.|.	.|.	.|.	.|.	16.8388|16.8388	0.85963|0.85963	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	455|455;455	Q86UP0-2|Q96LQ7;Q86UP0	.|.;CAD24_HUMAN	Y|C	455|455	ENSP00000434821:D455Y;ENSP00000452493:D455Y|ENSP00000380517:G455C;ENSP00000267383:G455C	.|.	D|G	-|-	1|1	0|0	CDH24|CDH24	22591522|22591522	.|.	.|.	0.976000|0.976000	0.42696|0.42696	0.873000|0.873000	0.50193|0.50193	.|.	.|.	2.501000|2.501000	0.84356|0.84356	0.561000|0.561000	0.74099|0.74099	GAC|GGC	.		0.652	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478	Missense_Mutation
PABPN1	8106	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	23791464	23791464	+	Silent	SNP	G	G	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:23791464G>A	ENST00000216727.4	+	2	607	c.426G>A	c.(424-426)gaG>gaA	p.E142E	BCL2L2-PABPN1_ENST00000557008.1_Silent_p.E169E|PABPN1_ENST00000557702.1_Silent_p.E14E|BCL2L2-PABPN1_ENST00000553781.1_Silent_p.E169E|AL049829.1_ENST00000594872.1_Silent_p.T7T|PABPN1_ENST00000397276.2_Silent_p.E142E|PABPN1_ENST00000556821.1_Silent_p.E14E	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	142	Interacts with SKIP.|Stimulates PAPOLA. {ECO:0000250}.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TACAGAACGAGGTAGAGAAGC	0.537																																					p.E169E		.											.	.	0			c.G507A						.						65.0	55.0	58.0					14																	23791464		2202	4300	6502	SO:0001819	synonymous_variant	100529063	exon4			GAACGAGGTAGAG	AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"""RNA binding motif (RRM) containing"""	8565	protein-coding gene	gene with protein product		602279	"""poly(A)-binding protein, nuclear 1"""	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.426G>A	14.37:g.23791464G>A		168	0		240	51	NM_001199864	0	0	91	135	44	D3DS49|O43484	Silent	SNP	ENST00000216727.4	37	CCDS9592.1																																																																																			.		0.537	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643	
TGM1	7051	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	24731331	24731331	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:24731331G>T	ENST00000206765.6	-	2	351	c.228C>A	c.(226-228)ggC>ggA	p.G76G	TGM1_ENST00000544573.1_Splice_Site	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	76	Membrane anchorage region.				cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GTCTTCGAGTGCCAGAGCTGG	0.657																																					p.G76G		.											.	TGM1-91	0			c.C228A						.						47.0	55.0	52.0					14																	24731331		2203	4300	6503	SO:0001819	synonymous_variant	7051	exon2			TCGAGTGCCAGAG	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.228C>A	14.37:g.24731331G>T		120	1		153	42	NM_000359	0	0	0	0	0	B4DWR7|Q197M4	Silent	SNP	ENST00000206765.6	37	CCDS9622.1																																																																																			.		0.657	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359	
KHNYN	23351	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	24901482	24901482	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:24901482C>A	ENST00000251343.5	+	3	1154	c.1015C>A	c.(1015-1017)Cga>Aga	p.R339R	CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000553935.1_Silent_p.R339R|KHNYN_ENST00000556842.1_Silent_p.R339R|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000554268.1_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	339							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						AGCTCAGTCCCGAGGAGCCTC	0.667											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R339R		.											.	KHNYN-93	0			c.C1015A						.						55.0	60.0	58.0					14																	24901482		2203	4299	6502	SO:0001819	synonymous_variant	23351	exon3			CAGTCCCGAGGAG	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.1015C>A	14.37:g.24901482C>A		131	0	774	162	11	NM_015299	0	0	15	15	0	Q86TZ6|Q8IUQ2|Q96BA9	Silent	SNP	ENST00000251343.5	37	CCDS32058.1																																																																																			.		0.667	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1		
AKAP6	9472	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	14	33291762	33291762	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:33291762C>A	ENST00000280979.4	+	13	4913	c.4743C>A	c.(4741-4743)ggC>ggA	p.G1581G	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1581	Ser-rich.				action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TTGGATTGGGCATCTTTAAAA	0.423																																					p.G1581G	Melanoma(49;821 1200 7288 13647 42351)	.											.	AKAP6-733	0			c.C4743A						.						87.0	90.0	89.0					14																	33291762		2203	4299	6502	SO:0001819	synonymous_variant	9472	exon13			ATTGGGCATCTTT	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4743C>A	14.37:g.33291762C>A		99	0		103	28	NM_004274	0	0	0	0	0	A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	CCDS9644.1																																																																																			.		0.423	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
RALGAPA1	253959	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	36191028	36191028	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:36191028G>T	ENST00000389698.3	-	16	2522	c.2132C>A	c.(2131-2133)tCa>tAa	p.S711*	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000258840.6_Nonsense_Mutation_p.S711*|RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.S711*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.S711*	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	711					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTTGTCAACTGAAACTTTCTG	0.418																																					p.S711X		.											.	RALGAPA1-138	0			c.C2132A						.						82.0	79.0	80.0					14																	36191028		2203	4300	6503	SO:0001587	stop_gained	253959	exon16			TCAACTGAAACTT	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.2132C>A	14.37:g.36191028G>T	ENSP00000374348:p.Ser711*	65	0		94	18	NM_194301	0	0	1	1	0	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Nonsense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	44	10.531580	0.99422	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	.	.	.	5.65	5.65	0.86999	.	0.193916	0.46145	D	0.000319	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7698	20.1057	0.97893	0.0:0.0:1.0:0.0	.	.	.	.	X	711	.	ENSP00000258840:S711X	S	-	2	0	RALGAPA1	35260779	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.258000	0.72487	2.827000	0.97445	0.650000	0.86243	TCA	.		0.418	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022	
DNAAF2	55172	hgsc.bcm.edu	37	14	50100683	50100683	+	Silent	SNP	C	C	G	rs2985686	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:50100683C>G	ENST00000298292.8	-	1	1265	c.1185G>C	c.(1183-1185)gcG>gcC	p.A395A	DNAAF2_ENST00000406043.3_Silent_p.A395A	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	395					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						CTCCGTCCTCCGCGCGACTCC	0.781													G|||	2800	0.559105	0.6702	0.6715	5008	,	,		11594	0.1736		0.7604	False		,,,				2504	0.5194				p.A395A		.											.	.	0			c.G1185C						.						1.0	1.0	1.0					14																	50100683		917	2082	2999	SO:0001819	synonymous_variant	55172	exon1			GTCCTCCGCGCGA	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1185G>C	14.37:g.50100683C>G		0	0		8	8	NM_018139	0	0	0	4	4	B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Silent	SNP	ENST00000298292.8	37	CCDS9691.2																																																																																			C|0.569;G|0.431		0.781	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1		
SOS2	6655	bcgsc.ca	37	14	50616832	50616832	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:50616832C>A	ENST00000216373.5	-	14	2552	c.2278G>T	c.(2278-2280)Gaa>Taa	p.E760*	SOS2_ENST00000543680.1_Nonsense_Mutation_p.E727*	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	760					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATATGCCATTCAATTGGTGGA	0.418																																					p.E760X		.											.	SOS2-849	0			c.G2278T						.						273.0	230.0	245.0					14																	50616832		2203	4300	6503	SO:0001587	stop_gained	6655	exon14			GCCATTCAATTGG	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2278G>T	14.37:g.50616832C>A	ENSP00000216373:p.Glu760*	176	4		223	57	NM_006939	0	0	12	12	0	B7ZKT6|D3DSB4|Q15503|Q17RN1	Nonsense_Mutation	SNP	ENST00000216373.5	37	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	C	39	7.321567	0.98210	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	.	.	.	5.52	4.63	0.57726	.	0.091766	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.2826	0.66224	0.0:0.9285:0.0:0.0715	.	.	.	.	X	760;727	.	ENSP00000216373:E760X	E	-	1	0	SOS2	49686582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.040000	0.70980	1.348000	0.45733	0.655000	0.94253	GAA	.		0.418	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2		
NID2	22795	broad.mit.edu	37	14	52508850	52508850	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:52508850C>A	ENST00000216286.5	-	7	1797	c.1798G>T	c.(1798-1800)Ggc>Tgc	p.G600C	NID2_ENST00000541773.1_Missense_Mutation_p.G547C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	600	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TTCTCAGAGCCAGGTTTTTCT	0.587																																					p.G600C		.											.	NID2-158	0			c.G1798T						.						82.0	90.0	87.0					14																	52508850		2203	4300	6503	SO:0001583	missense	22795	exon7			CAGAGCCAGGTTT	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1798G>T	14.37:g.52508850C>A	ENSP00000216286:p.Gly600Cys	45	1		74	14	NM_007361	0	0	4	4	0	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256643	0.80246	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.25749	1.78;1.78	5.93	5.93	0.95920	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.091506	0.85682	D	0.000000	T	0.59183	0.2175	M	0.84846	2.72	0.44079	D	0.996833	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.996;0.999;0.999	T	0.62709	-0.6797	10	0.87932	D	0	.	19.949	0.97192	0.0:1.0:0.0:0.0	.	194;547;602;600	E7EPP3;Q14112-2;Q5CZI2;Q14112	.;.;.;NID2_HUMAN	C	600;194;547;602	ENSP00000216286:G600C;ENSP00000443730:G547C	ENSP00000216286:G600C	G	-	1	0	NID2	51578600	0.994000	0.37717	0.997000	0.53966	0.897000	0.52465	2.779000	0.47734	2.826000	0.97356	0.655000	0.94253	GGC	.		0.587	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1		
ERO1L	30001	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	53110333	53110333	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:53110333C>A	ENST00000395686.3	-	16	1585	c.1362G>T	c.(1360-1362)gtG>gtT	p.V454V	RP11-841O20.2_ENST00000554055.1_RNA	NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	454					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					CTAATTCTTTCACACTTGTAG	0.299																																					p.V454V		.											.	ERO1L-90	0			c.G1362T						.						41.0	37.0	38.0					14																	53110333		2185	4285	6470	SO:0001819	synonymous_variant	30001	exon16			TTCTTTCACACTT	AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"""ERO1 (S. cerevisiae)-like"""			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.1362G>T	14.37:g.53110333C>A		48	0		43	10	NM_014584	0	0	66	77	11	A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Silent	SNP	ENST00000395686.3	37	CCDS9709.1																																																																																			.		0.299	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	NM_014584	
FERMT2	10979	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	53386013	53386013	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:53386013C>A	ENST00000395631.2	-	3	435	c.219G>T	c.(217-219)ctG>ctT	p.L73L	FERMT2_ENST00000341590.3_Silent_p.L73L|FERMT2_ENST00000343279.4_Silent_p.L73L|FERMT2_ENST00000553373.1_Silent_p.L73L|FERMT2_ENST00000399304.3_Silent_p.L73L			Q96AC1	FERM2_HUMAN	fermitin family member 2	73	Interaction with membranes containing phosphatidylinositol phosphate.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AATGTGTCTTCAGAAGCCAAG	0.403																																					p.L73L		.											.	FERMT2-68	0			c.G219T						.						140.0	128.0	132.0					14																	53386013		2203	4300	6503	SO:0001819	synonymous_variant	10979	exon3			TGTCTTCAGAAGC	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.219G>T	14.37:g.53386013C>A		138	1		158	54	NM_001135000	0	0	0	0	0	B5TJY2|Q14840|Q86TY7	Silent	SNP	ENST00000395631.2	37	CCDS9713.1																																																																																			.		0.403	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832	
PELI2	57161	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	56755230	56755230	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:56755230G>T	ENST00000267460.4	+	4	671	c.385G>T	c.(385-387)Gcc>Tcc	p.A129S		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	129	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|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)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CACGGACGAAGCCCAGATCAC	0.512																																					p.A129S		.											.	PELI2-91	0			c.G385T						.						106.0	87.0	93.0					14																	56755230		2203	4300	6503	SO:0001583	missense	57161	exon4			GACGAAGCCCAGA	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.385G>T	14.37:g.56755230G>T	ENSP00000267460:p.Ala129Ser	160	0		175	29	NM_021255	0	0	0	0	0	B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	G	6.933	0.541893	0.13250	.	.	ENSG00000139946	ENST00000267460	T	0.42900	0.96	5.73	2.56	0.30785	.	0.264230	0.41605	D	0.000853	T	0.13798	0.0334	N	0.02539	-0.55	0.31994	N	0.604193	B	0.02656	0.0	B	0.10450	0.005	T	0.06041	-1.0849	10	0.24483	T	0.36	-29.7163	2.176	0.03862	0.3486:0.0:0.4135:0.2379	.	129	Q9HAT8	PELI2_HUMAN	S	129	ENSP00000267460:A129S	ENSP00000267460:A129S	A	+	1	0	PELI2	55824983	0.108000	0.22018	0.999000	0.59377	0.762000	0.43233	1.724000	0.38064	1.428000	0.47296	-0.136000	0.14681	GCC	.		0.512	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1		
TMEM260	54916	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	57103241	57103241	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:57103241C>A	ENST00000261556.6	+	15	1916	c.1794C>A	c.(1792-1794)ttC>ttA	p.F598L	RP11-1085N6.2_ENST00000553800.1_RNA|RP11-1085N6.2_ENST00000555924.1_RNA|TMEM260_ENST00000536419.1_Missense_Mutation_p.F132L	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	598						integral component of membrane (GO:0016021)											AAACACCGTTCTTCATCTTTA	0.418																																					p.F598L		.											.	.	0			c.C1794A						.						100.0	91.0	94.0					14																	57103241		2203	4300	6503	SO:0001583	missense	0	exon15			ACCGTTCTTCATC	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1794C>A	14.37:g.57103241C>A	ENSP00000261556:p.Phe598Leu	186	2		217	22	NM_017799	0	0	10	10	0	A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	CCDS9727.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.88|13.88	2.367599|2.367599	0.42003|0.42003	.|.	.|.	ENSG00000070269|ENSG00000070269	ENST00000261556;ENST00000536419|ENST00000555046	T;T|.	0.45668|.	1.6;0.89|.	4.91|4.91	4.01|4.01	0.46588|0.46588	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69342|0.69342	0.3100|0.3100	M|M	0.63428|0.63428	1.95|1.95	0.42356|0.42356	D|D	0.992391|0.992391	D|.	0.58620|.	0.983|.	P|.	0.56278|.	0.795|.	T|T	0.69266|0.69266	-0.5190|-0.5190	10|5	0.49607|.	T|.	0.09|.	-5.7869|-5.7869	13.6919|13.6919	0.62550|0.62550	0.0:0.9246:0.0:0.0754|0.0:0.9246:0.0:0.0754	.|.	598|.	Q9NX78|.	CN101_HUMAN|.	L|Y	598;132|3	ENSP00000261556:F598L;ENSP00000438742:F132L|.	ENSP00000261556:F598L|.	F|S	+|+	3|2	2|0	C14orf101|C14orf101	56172994|56172994	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.902000|0.902000	0.53008|0.53008	3.139000|3.139000	0.50577|0.50577	1.274000|1.274000	0.44362|0.44362	0.563000|0.563000	0.77884|0.77884	TTC|TCT	.		0.418	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799	
RTN1	6252	ucsc.edu;bcgsc.ca	37	14	60212795	60212795	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:60212795C>A	ENST00000267484.5	-	2	981	c.646G>T	c.(646-648)Gaa>Taa	p.E216*		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	216					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCTTTATCTTCCAGCTCGGGG	0.458																																					p.E216X		.											.	RTN1-516	0			c.G646T						.						247.0	243.0	245.0					14																	60212795		2203	4300	6503	SO:0001587	stop_gained	6252	exon2			TATCTTCCAGCTC	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.646G>T	14.37:g.60212795C>A	ENSP00000267484:p.Glu216*	129	3		155	59	NM_021136	0	0	0	0	0	Q16800|Q16801|Q5BKZ4|Q9BQ59	Nonsense_Mutation	SNP	ENST00000267484.5	37	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667468	0.88348	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	.	.	.	5.7	4.8	0.61643	.	1.314180	0.05234	N	0.510873	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	14.6415	0.68729	0.0:0.8417:0.1583:0.0	.	.	.	.	X	216;142	.	ENSP00000267484:E216X	E	-	1	0	RTN1	59282548	0.008000	0.16893	0.010000	0.14722	0.039000	0.13416	1.227000	0.32576	1.378000	0.46305	0.557000	0.71058	GAA	.		0.458	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2		
SYNE2	23224	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	64580141	64580141	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:64580141G>T	ENST00000344113.4	+	66	12904	c.12692G>T	c.(12691-12693)aGg>aTg	p.R4231M	SYNE2_ENST00000357395.3_Missense_Mutation_p.R616M|SYNE2_ENST00000394768.2_Missense_Mutation_p.R616M|SYNE2_ENST00000555002.1_Missense_Mutation_p.R865M|SYNE2_ENST00000554584.1_Missense_Mutation_p.R4246M|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.R4231M	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4231					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAGAAAACTAGGCCGGAGCCC	0.567																																					p.R4231M		.											.	SYNE2-164	0			c.G12692T						.						55.0	54.0	55.0					14																	64580141		2203	4300	6503	SO:0001583	missense	23224	exon66			AAACTAGGCCGGA	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12692G>T	14.37:g.64580141G>T	ENSP00000341781:p.Arg4231Met	66	0		83	24	NM_182914	0	0	1	1	0	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975543	0.34848	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553308	T;T;T;T;T;T	0.64618	0.45;3.73;0.43;-0.11;3.8;3.73	5.97	5.08	0.68730	.	0.562040	0.18317	N	0.144906	T	0.66470	0.2792	L	0.34521	1.04	0.53688	D	0.999972	D;D;D	0.67145	0.98;0.993;0.996	P;P;P	0.58970	0.849;0.635;0.8	T	0.68918	-0.5282	10	0.72032	D	0.01	.	13.2854	0.60241	0.0729:0.0:0.9271:0.0	.	616;4231;4231	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	M	4231;616;4231;4246;4246;865;616;123	ENSP00000350719:R4231M;ENSP00000349969:R616M;ENSP00000341781:R4231M;ENSP00000452570:R4246M;ENSP00000450831:R865M;ENSP00000378249:R616M	ENSP00000261678:R4246M	R	+	2	0	SYNE2	63649894	0.990000	0.36364	0.008000	0.14137	0.576000	0.36127	3.669000	0.54561	1.535000	0.49220	0.655000	0.94253	AGG	.		0.567	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
ADAM21	8747	broad.mit.edu	37	14	70924812	70924812	+	Missense_Mutation	SNP	C	C	T	rs370238293		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:70924812C>T	ENST00000603540.1	+	2	854	c.596C>T	c.(595-597)tCt>tTt	p.S199F	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.S199F	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	199					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAACCAAAATCTGCTGGTGAC	0.448																																					p.S199F		.											.	ADAM21-92	0			c.C596T						.						74.0	76.0	75.0					14																	70924812		2203	4300	6503	SO:0001583	missense	8747	exon2			CAAAATCTGCTGG	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.596C>T	14.37:g.70924812C>T	ENSP00000474385:p.Ser199Phe	81	1		108	4	NM_003813	0	0	0	0	0	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	C	9.262	1.043355	0.19748	.	.	ENSG00000139985	ENST00000267499	T	0.01215	5.16	3.49	3.49	0.39957	.	0.378699	0.19013	U	0.125029	T	0.02230	0.0069	M	0.68593	2.085	0.26948	N	0.966098	B	0.32876	0.388	B	0.37422	0.249	T	0.24764	-1.0151	10	0.40728	T	0.16	.	10.6601	0.45698	0.0:1.0:0.0:0.0	.	199	Q9UKJ8	ADA21_HUMAN	F	199	ENSP00000267499:S199F	ENSP00000267499:S199F	S	+	2	0	ADAM21	69994565	0.001000	0.12720	0.813000	0.32504	0.022000	0.10575	0.380000	0.20602	1.947000	0.56498	0.557000	0.71058	TCT	.		0.448	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3		
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	AG	-	rs150988201		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:73572607_73572608delAG	ENST00000261973.7	+	11	1480_1481	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446																																					p.399_399del		.											.	RBM25-91	0			c.1195_1196del						.																																			SO:0001589	frameshift_variant	58517	exon11			CGGGAAAGAGAGA	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1195_1196delAG	14.37:g.73572617_73572618delAG	ENSP00000261973:p.Arg399fs	161	0		140	8	NM_021239	0	0	0	0	0	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Frame_Shift_Del	DEL	ENST00000261973.7	37	CCDS32113.1																																																																																			.		0.446	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330	
DLST	1743	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	75359678	75359678	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:75359678C>A	ENST00000334220.4	+	8	645	c.584C>A	c.(583-585)tCt>tAt	p.S195Y	DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_Missense_Mutation_p.S109Y	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	195					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		CAGCCTCCTTCTGGCAAACCT	0.547																																					p.S195Y		.											.	DLST-227	0			c.C584A						.						58.0	49.0	52.0					14																	75359678		2203	4300	6503	SO:0001583	missense	1743	exon8			CTCCTTCTGGCAA		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.584C>A	14.37:g.75359678C>A	ENSP00000335304:p.Ser195Tyr	103	0		103	15	NM_001933	0	0	0	0	0	B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Missense_Mutation	SNP	ENST00000334220.4	37	CCDS9833.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.254749	0.22965	.	.	ENSG00000119689	ENST00000334220;ENST00000334212;ENST00000554806	T;T;T	0.50277	0.75;0.75;0.75	5.11	-0.265	0.12946	.	0.606715	0.18877	N	0.128699	T	0.22898	0.0553	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.30709	0.291;0.102;0.102;0.102;0.291	B;B;B;B;B	0.24541	0.054;0.054;0.054;0.054;0.054	T	0.12656	-1.0539	10	0.87932	D	0	-62.2813	4.2063	0.10490	0.2671:0.3831:0.0:0.3498	.	109;195;195;107;111	B7Z5W8;Q6IBS5;P36957;Q86TQ8;Q86TW7	.;.;ODO2_HUMAN;.;.	Y	195;109;178	ENSP00000335304:S195Y;ENSP00000335465:S109Y;ENSP00000451957:S178Y	ENSP00000238671:S178Y	S	+	2	0	DLST	74429431	0.025000	0.19082	0.049000	0.19019	0.470000	0.32858	1.325000	0.33724	0.110000	0.17919	0.655000	0.94253	TCT	.		0.547	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1		
BEGAIN	57596	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	101011394	101011394	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:101011394G>T	ENST00000355173.2	-	4	257	c.186C>A	c.(184-186)agC>agA	p.S62R	BEGAIN_ENST00000554747.1_5'Flank|BEGAIN_ENST00000556751.1_5'UTR|BEGAIN_ENST00000443071.2_Missense_Mutation_p.S62R	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	62						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CCATGTAGTTGCTCTGAATCC	0.647																																					p.S62R	NSCLC(159;1889 2010 9965 27479 40101)	.											.	BEGAIN-68	0			c.C186A						.						198.0	133.0	155.0					14																	101011394		2203	4300	6503	SO:0001583	missense	57596	exon4			GTAGTTGCTCTGA	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.186C>A	14.37:g.101011394G>T	ENSP00000347301:p.Ser62Arg	50	0		72	7	NM_020836	0	0	0	0	0	Q9NPU3|Q9P282	Missense_Mutation	SNP	ENST00000355173.2	37	CCDS9962.1	.	.	.	.	.	.	.	.	.	.	G	9.995	1.231824	0.22626	.	.	ENSG00000183092	ENST00000355173;ENST00000443071;ENST00000553553;ENST00000556188;ENST00000557378;ENST00000554140	T;T;T;T;T;T	0.77098	0.76;0.76;-1.07;-1.07;-1.07;-1.07	3.16	2.27	0.28462	.	0.211953	0.48767	D	0.000167	T	0.64114	0.2569	L	0.38838	1.175	0.44295	D	0.997162	P	0.36535	0.557	B	0.33196	0.159	T	0.63457	-0.6633	10	0.54805	T	0.06	.	8.5833	0.33642	0.1204:0.0:0.8796:0.0	.	62	Q9BUH8	BEGIN_HUMAN	R	62;62;74;62;62;81	ENSP00000347301:S62R;ENSP00000411124:S62R;ENSP00000451397:S74R;ENSP00000452157:S62R;ENSP00000450722:S62R;ENSP00000451125:S81R	ENSP00000347301:S62R	S	-	3	2	BEGAIN	100081147	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	2.933000	0.48948	0.907000	0.36646	-0.266000	0.10368	AGC	.		0.647	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836	
HSP90AA1	3320	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	102551693	102551693	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:102551693C>A	ENST00000216281.8	-	4	810	c.605G>T	c.(604-606)aGa>aTa	p.R202I	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.R23I|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.R324I	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	202					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	CTCCTTTATTCTTCGTTCCTC	0.363																																					p.R324I		.											.	HSP90AA1-949	0			c.G971T						.						85.0	69.0	75.0					14																	102551693		2203	4300	6503	SO:0001583	missense	3320	exon5			TTTATTCTTCGTT	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.605G>T	14.37:g.102551693C>A	ENSP00000216281:p.Arg202Ile	154	1		192	58	NM_001017963	0	0	137	194	57	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.161744	0.78226	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629;ENST00000553585	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	4.29	4.29	0.51040	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.000000	0.64402	U	0.000001	T	0.53481	0.1799	H	0.99336	4.52	0.80722	D	1	D;D;D	0.89917	0.987;1.0;0.999	D;D;D	0.87578	0.985;0.998;0.993	T	0.77104	-0.2711	10	0.87932	D	0	-17.6037	17.1172	0.86692	0.0:1.0:0.0:0.0	.	23;324;202	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	I	202;324;23;133	ENSP00000216281:R202I;ENSP00000335153:R324I;ENSP00000396189:R23I;ENSP00000450712:R133I	ENSP00000216281:R202I	R	-	2	0	HSP90AA1	101621446	0.928000	0.31464	0.374000	0.26016	0.997000	0.91878	7.592000	0.82676	2.121000	0.65114	0.650000	0.86243	AGA	.		0.363	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348	
SIVA1	10572	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	105222044	105222044	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:105222044C>A	ENST00000329967.6	+	2	298	c.196C>A	c.(196-198)Cac>Aac	p.H66N	SIVA1_ENST00000347067.5_Intron	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	66					activation-induced cell death of T cells (GO:0006924)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	CD27 receptor binding (GO:0005175)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		TGCCGTCGTTCACCTGCCAGA	0.627																																					p.H66N		.											.	SIVA1-514	0			c.C196A						.						69.0	68.0	68.0					14																	105222044		2203	4300	6503	SO:0001583	missense	10572	exon2			GTCGTTCACCTGC	U82938	CCDS9992.1, CCDS9993.1	14q32.33	2007-03-19							17712	protein-coding gene	gene with protein product		605567				9177220	Standard	NM_006427		Approved	SIVA, Siva-1, Siva-2, CD27BP	uc001yph.3	O15304		ENST00000329967.6:c.196C>A	14.37:g.105222044C>A	ENSP00000329213:p.His66Asn	95	0		117	33	NM_006427	0	0	127	185	58	Q96P98|Q9UPD6	Missense_Mutation	SNP	ENST00000329967.6	37	CCDS9992.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.579|4.579	0.107505|0.107505	0.08780|0.08780	.|.	.|.	ENSG00000184990|ENSG00000184990	ENST00000556195|ENST00000329967;ENST00000553810	.|.	.|.	.|.	5.03|5.03	2.15|2.15	0.27550|0.27550	.|.	.|0.894418	.|0.09590	.|N	.|0.781624	T|T	0.33933|0.33933	0.0880|0.0880	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	0.999996|0.999996	.|B;B;B	.|0.34241	.|0.126;0.126;0.444	.|B;B;B	.|0.28916	.|0.067;0.096;0.085	T|T	0.09885|0.09885	-1.0654|-1.0654	5|9	.|0.20046	.|T	.|0.44	-13.0958|-13.0958	13.4597|13.4597	0.61221|0.61221	0.0:0.5842:0.4158:0.0|0.0:0.5842:0.4158:0.0	.|.	.|66;66;66	.|B4DTY2;O15304;G3V3U1	.|.;SIVA_HUMAN;.	L|N	83|66	.|.	.|ENSP00000329213:H66N	F|H	+|+	3|1	2|0	SIVA1|SIVA1	104293089|104293089	0.000000|0.000000	0.05858|0.05858	0.014000|0.014000	0.15608|0.15608	0.921000|0.921000	0.55340|0.55340	-0.039000|-0.039000	0.12124|0.12124	0.143000|0.143000	0.18926|0.18926	-0.300000|-0.300000	0.09419|0.09419	TTC|CAC	.		0.627	SIVA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410541.1	NM_006427	
BRF1	2972	broad.mit.edu;ucsc.edu	37	14	105688210	105688210	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:105688210C>A	ENST00000546474.1	-	11	16049	c.1090G>T	c.(1090-1092)Gac>Tac	p.D364Y	BRF1_ENST00000379937.2_Missense_Mutation_p.D337Y|BRF1_ENST00000392557.4_Missense_Mutation_p.D160Y|BRF1_ENST00000446501.2_Missense_Mutation_p.D126Y|BRF1_ENST00000547530.1_5'UTR|BRF1_ENST00000327359.3_Missense_Mutation_p.D249Y|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000440513.3_Missense_Mutation_p.D249Y|BRF1_ENST00000549044.1_5'Flank	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	364					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TCCTCTGTGTCCTCCTCGCCA	0.627																																					p.D364Y		.											.	BRF1-155	0			c.G1090T						.						26.0	16.0	19.0					14																	105688210		2200	4291	6491	SO:0001583	missense	2972	exon11			CTGTGTCCTCCTC	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1090G>T	14.37:g.105688210C>A	ENSP00000448323:p.Asp364Tyr	77	0		83	4	NM_001519	0	0	14	17	3	B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	CCDS10001.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971772	0.53614	.	.	ENSG00000185024	ENST00000392557;ENST00000379937;ENST00000546474;ENST00000446501;ENST00000327359;ENST00000440513;ENST00000547562;ENST00000549655	.	.	.	4.64	4.64	0.57946	.	0.289409	0.38897	N	0.001537	T	0.72053	0.3413	M	0.61703	1.905	0.80722	D	1	P;D;D	0.54397	0.94;0.964;0.966	P;P;P	0.56700	0.627;0.804;0.525	T	0.75872	-0.3164	9	0.66056	D	0.02	.	15.3816	0.74661	0.0:1.0:0.0:0.0	.	249;337;364	F5H5Z7;Q92994-5;Q92994	.;.;TF3B_HUMAN	Y	160;337;364;126;249;249;84;160	.	ENSP00000329029:D249Y	D	-	1	0	BRF1	104759255	1.000000	0.71417	0.832000	0.32986	0.219000	0.24729	5.154000	0.64894	2.292000	0.77174	0.561000	0.74099	GAC	.		0.627	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519	
HERC2	8924	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	28441707	28441707	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:28441707C>A	ENST00000261609.7	-	51	8128	c.8020G>T	c.(8020-8022)Gcc>Tcc	p.A2674S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTTCCATTGGCACTGAAAGCT	0.438																																					p.A2674S		.											.	HERC2-234	0			c.G8020T						.						86.0	81.0	82.0					15																	28441707		2203	4300	6503	SO:0001583	missense	8924	exon51			CATTGGCACTGAA	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8020G>T	15.37:g.28441707C>A	ENSP00000261609:p.Ala2674Ser	285	1		394	94	NM_004667	0	0	0	0	0		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873555	0.33069	.	.	ENSG00000128731	ENST00000261609	T	0.38077	1.16	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	N	0.03608	-0.345	0.80722	D	1	B;D	0.63880	0.003;0.993	B;D	0.72625	0.003;0.978	T	0.39663	-0.9603	10	0.14656	T	0.56	.	18.9084	0.92472	0.0:1.0:0.0:0.0	.	141;2674	A8KAQ8;O95714	.;HERC2_HUMAN	S	2674	ENSP00000261609:A2674S	ENSP00000261609:A2674S	A	-	1	0	HERC2	26115302	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	7.776000	0.85560	2.547000	0.85894	0.484000	0.47621	GCC	.		0.438	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
TJP1	7082	broad.mit.edu;ucsc.edu	37	15	30018654	30018654	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:30018654C>A	ENST00000346128.6	-	18	2815	c.2341G>T	c.(2341-2343)Ggt>Tgt	p.G781C	TJP1_ENST00000545208.2_Missense_Mutation_p.G781C|RP11-680F8.4_ENST00000560740.1_RNA|TJP1_ENST00000400011.2_Missense_Mutation_p.G785C|TJP1_ENST00000356107.6_Missense_Mutation_p.G781C	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	781					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CCATACCAACCATCATTCATT	0.363																																					p.G781C	Melanoma(77;681 1843 6309 6570)	.											.	TJP1-95	0			c.G2341T						.						103.0	97.0	99.0					15																	30018654		1844	4093	5937	SO:0001583	missense	7082	exon18			ACCAACCATCATT		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2341G>T	15.37:g.30018654C>A	ENSP00000281537:p.Gly781Cys	81	1		108	15	NM_175610	0	0	0	1	1	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084570	0.94100	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.82	5.82	0.92795	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.00775	-1.1571	9	.	.	.	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	774;781;781;785	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	C	781;785;781;781;781	ENSP00000281537:G781C;ENSP00000382890:G785C;ENSP00000441202:G781C;ENSP00000348416:G781C	.	G	-	1	0	TJP1	27805946	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	GGT	.		0.363	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	
FAN1	22909	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	31217483	31217483	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:31217483G>T	ENST00000362065.4	+	9	2617	c.2326G>T	c.(2326-2328)Gat>Tat	p.D776Y	FAN1_ENST00000568145.1_3'UTR|RP11-540B6.6_ENST00000602886.1_RNA	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	776					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GGCTGTGCAAGATGTGAAACA	0.522								Direct reversal of damage																													p.D776Y		.											.	FAN1-90	0			c.G2326T						.						45.0	45.0	45.0					15																	31217483		2202	4300	6502	SO:0001583	missense	22909	exon9			GTGCAAGATGTGA		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2326G>T	15.37:g.31217483G>T	ENSP00000354497:p.Asp776Tyr	46	0		69	15	NM_014967	0	0	2	4	2	A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392083	0.62066	.	.	ENSG00000198690	ENST00000362065	D	0.81499	-1.5	5.72	5.72	0.89469	.	0.165234	0.52532	D	0.000073	D	0.90328	0.6974	M	0.83118	2.625	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.65443	0.935;0.885	D	0.90775	0.4675	10	0.62326	D	0.03	-21.3406	19.4919	0.95054	0.0:0.0:1.0:0.0	.	776;776	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	Y	776	ENSP00000354497:D776Y	ENSP00000354497:D776Y	D	+	1	0	FAN1	29004775	1.000000	0.71417	0.193000	0.23327	0.072000	0.16883	8.514000	0.90545	2.691000	0.91804	0.655000	0.94253	GAT	.		0.522	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967	
TRPM1	4308	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	31342674	31342674	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:31342674C>A	ENST00000256552.6	-	12	1522	c.1375G>T	c.(1375-1377)Ggg>Tgg	p.G459W	TRPM1_ENST00000542188.1_Missense_Mutation_p.G476W|TRPM1_ENST00000397795.2_Missense_Mutation_p.G437W	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ttcactttccctttcttcttg	0.547																																					p.G476W		.											.	TRPM1-94	0			c.G1426T						.						199.0	203.0	202.0					15																	31342674		1975	4143	6118	SO:0001583	missense	4308	exon11			CTTTCCCTTTCTT	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1375G>T	15.37:g.31342674C>A	ENSP00000256552:p.Gly459Trp	126	0		151	31	NM_001252020	0	0	0	0	0		Missense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643409	0.47258	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.80566	-1.39;-1.39;-1.39	4.8	4.8	0.61643	.	0.174263	0.49305	D	0.000141	D	0.82651	0.5083	N	0.22421	0.69	0.45342	D	0.998332	D;D	0.76494	0.999;0.999	D;D	0.70716	0.97;0.919	D	0.85555	0.1224	10	0.87932	D	0	-23.8729	15.333	0.74229	0.0:1.0:0.0:0.0	.	431;437	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	W	437;476;459;437	ENSP00000380897:G437W;ENSP00000437849:G476W;ENSP00000256552:G459W	ENSP00000256552:G459W	G	-	1	0	TRPM1	29129966	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	4.861000	0.62969	2.188000	0.69820	0.313000	0.20887	GGG	.		0.547	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
EMC4	51234	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	34517318	34517318	+	Start_Codon_SNP	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:34517318G>T	ENST00000267750.4	+	1	119	c.3G>T	c.(1-3)atG>atT	p.M1I	EMC4_ENST00000557879.1_Start_Codon_SNP_p.M1I|EMC4_ENST00000559421.1_Start_Codon_SNP_p.M1I|EMC4_ENST00000559078.1_Start_Codon_SNP_p.M1I|EMC4_ENST00000249209.4_Start_Codon_SNP_p.M1I	NM_016454.2	NP_057538.1	Q5J8M3	EMC4_HUMAN	ER membrane protein complex subunit 4	1					apoptotic process (GO:0006915)	ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CTGTTGCCATGACGGCCCAGG	0.617																																					p.M1I		.											.	.	0			c.G3T						.						15.0	16.0	16.0					15																	34517318		1908	3670	5578	SO:0001582	initiator_codon_variant	51234	exon1			TGCCATGACGGCC	BC016348	CCDS10035.1, CCDS66732.1	15q14	2012-05-23	2012-05-23	2012-05-23	ENSG00000128463	ENSG00000128463			28032	protein-coding gene	gene with protein product			"""transmembrane protein 85"""	TMEM85		18586032, 22119785	Standard	NM_001286420		Approved	FLJ90746, MGC24415, PIG17	uc001zhq.3	Q5J8M3	OTTHUMG00000129411	ENST00000267750.4:c.3G>T	15.37:g.34517318G>T	ENSP00000267750:p.Met1Ile	86	0		147	10	NM_016454	0	0	113	129	16	A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9	Missense_Mutation	SNP	ENST00000267750.4	37	CCDS10035.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723718	0.68959	.	.	ENSG00000128463	ENST00000267750;ENST00000249209	T;T	0.43294	1.04;0.95	5.65	4.73	0.59995	.	0.311519	0.41001	D	0.000963	T	0.36908	0.0984	.	.	.	0.80722	D	1	P;B;B	0.35793	0.521;0.004;0.0	B;B;B	0.30105	0.111;0.006;0.0	T	0.38045	-0.9679	9	0.87932	D	0	.	15.7052	0.77573	0.0:0.1373:0.8627:0.0	.	1;1;1	Q5J8M3-3;Q5J8M3-2;Q5J8M3	.;.;TMM85_HUMAN	I	1	ENSP00000267750:M1I;ENSP00000249209:M1I	ENSP00000249209:M1I	M	+	3	0	TMEM85	32304610	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	5.594000	0.67557	1.611000	0.50210	0.655000	0.94253	ATG	.		0.617	EMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251568.1	NM_016454	Missense_Mutation
FAM98B	283742	broad.mit.edu;bcgsc.ca	37	15	38762452	38762452	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:38762452C>A	ENST00000491535.1	+	4	385	c.377C>A	c.(376-378)gCt>gAt	p.A126D	FAM98B_ENST00000397609.2_Missense_Mutation_p.A126D	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	126						cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		GAACTTCAAGCTTCACAGATA	0.249																																					p.A126D		.											.	FAM98B-515	0			c.C377A						.						19.0	19.0	19.0					15																	38762452		2178	4276	6454	SO:0001583	missense	283742	exon4			TTCAAGCTTCACA		CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831	ENST00000491535.1:c.377C>A	15.37:g.38762452C>A	ENSP00000453166:p.Ala126Asp	105	0		151	6	NM_001042429	0	0	10	11	1	A8MUW5|Q8N935	Missense_Mutation	SNP	ENST00000491535.1	37	CCDS42015.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272838	0.80580	.	.	ENSG00000171262	ENST00000397609;ENST00000305752	T	0.57273	0.41	4.78	4.78	0.61160	.	0.047350	0.85682	D	0.000000	T	0.76126	0.3944	M	0.84433	2.695	0.58432	D	0.99999	D;D	0.89917	0.999;1.0	D;D	0.78314	0.978;0.991	T	0.80614	-0.1304	10	0.87932	D	0	-17.0805	18.3464	0.90324	0.0:1.0:0.0:0.0	.	126;126	A8MUW5;Q52LJ0	.;FA98B_HUMAN	D	126	ENSP00000380734:A126D	ENSP00000303412:A126D	A	+	2	0	FAM98B	36549744	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.465000	0.66725	2.650000	0.89964	0.585000	0.79938	GCT	.		0.249	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611	
RASGRP1	10125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	38808534	38808534	+	Missense_Mutation	SNP	G	G	T	rs377660704		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:38808534G>T	ENST00000310803.5	-	6	716	c.539C>A	c.(538-540)tCc>tAc	p.S180Y	RASGRP1_ENST00000558164.1_Missense_Mutation_p.S180Y|RASGRP1_ENST00000559830.1_Missense_Mutation_p.S180Y|RASGRP1_ENST00000561180.1_Missense_Mutation_p.S231Y|RASGRP1_ENST00000450598.2_Missense_Mutation_p.S180Y|RASGRP1_ENST00000539159.1_Missense_Mutation_p.S132Y	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	180					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AAGTTTCCTGGACCAGTCACG	0.428																																					p.S180Y		.											.	RASGRP1-697	0			c.C539A						.						143.0	127.0	132.0					15																	38808534		1869	4094	5963	SO:0001583	missense	10125	exon6			TTCCTGGACCAGT	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.539C>A	15.37:g.38808534G>T	ENSP00000310244:p.Ser180Tyr	84	0		150	23	NM_001128602	0	0	0	0	0	Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825368	0.71143	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.03	5.03	0.67393	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.52693	0.1750	L	0.54323	1.7	0.58432	D	0.999996	D;D;D;D	0.71674	0.998;0.979;0.988;0.993	D;P;P;P	0.78314	0.991;0.76;0.76;0.879	T	0.51012	-0.8759	10	0.59425	D	0.04	-23.518	18.912	0.92489	0.0:0.0:1.0:0.0	.	180;180;180;180	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	Y	180;180;180;180;132;180;180	ENSP00000310244:S180Y;ENSP00000388540:S180Y;ENSP00000444762:S132Y;ENSP00000413105:S180Y	ENSP00000310244:S180Y	S	-	2	0	RASGRP1	36595826	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.347000	0.79356	2.778000	0.95560	0.655000	0.94253	TCC	.		0.428	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739	
CHP1	11261	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	41523643	41523643	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:41523643C>A	ENST00000334660.5	+	1	303	c.63C>A	c.(61-63)acC>acA	p.T21T	EXD1_ENST00000314992.5_5'Flank|EXD1_ENST00000559743.1_5'Flank|CHP1_ENST00000558351.1_Intron|CHP1_ENST00000560397.1_Silent_p.T21T|EXD1_ENST00000458580.2_5'Flank	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	21					calcium ion-dependent exocytosis (GO:0017156)|cellular response to acidic pH (GO:0071468)|cytoplasmic microtubule organization (GO:0031122)|membrane docking (GO:0022406)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|microtubule bundle formation (GO:0001578)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of protein transport (GO:0051222)|positive regulation of sodium:proton antiporter activity (GO:0032417)|potassium ion transport (GO:0006813)|protein export from nucleus (GO:0006611)|protein oligomerization (GO:0051259)|protein stabilization (GO:0050821)|regulation of intracellular pH (GO:0051453)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|kinase binding (GO:0019900)|microtubule binding (GO:0008017)|potassium channel regulator activity (GO:0015459)|protein kinase inhibitor activity (GO:0004860)|transporter activity (GO:0005215)										AGAAGGAGACCGGCTGTGAGT	0.677																																					p.T21T		.											.	.	0			c.C63A						.						32.0	23.0	26.0					15																	41523643		2200	4298	6498	SO:0001819	synonymous_variant	11261	exon1			GGAGACCGGCTGT		CCDS10073.1	15q13.3	2013-01-11	2013-01-11		ENSG00000187446	ENSG00000187446		"""EF-hand domain containing"""	17433	protein-coding gene	gene with protein product	"""calcineurin homologous protein"""	606988				15987692, 20720019	Standard	NM_007236		Approved	Sid470p, CHP, SLC9A1BP, p22, p24	uc001znl.3	Q99653	OTTHUMG00000130233	ENST00000334660.5:c.63C>A	15.37:g.41523643C>A		118	1		203	56	NM_007236	0	0	0	0	0	B2R6H9|Q6FHZ9	Silent	SNP	ENST00000334660.5	37	CCDS10073.1																																																																																			.		0.677	CHP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252554.2	NM_007236	
TYRO3	7301	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	41861213	41861213	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:41861213C>A	ENST00000263798.3	+	9	1469	c.1245C>A	c.(1243-1245)gaC>gaA	p.D415E	TYRO3_ENST00000559066.1_Missense_Mutation_p.D370E	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	415	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTTCTCATGACCGTGCAGGTG	0.577																																					p.D415E		.											.	TYRO3-1388	0			c.C1245A						.						101.0	87.0	91.0					15																	41861213		2203	4300	6503	SO:0001583	missense	7301	exon9			TCATGACCGTGCA	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1245C>A	15.37:g.41861213C>A	ENSP00000263798:p.Asp415Glu	60	0		112	10	NM_006293	0	0	0	0	0	O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183419	0.38609	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.71698	-0.59	4.73	1.78	0.24846	Fibronectin, type III (1);	0.000000	0.44688	D	0.000432	T	0.34919	0.0914	N	0.02539	-0.55	0.26511	N	0.974598	B	0.16802	0.019	B	0.19148	0.024	T	0.24835	-1.0149	10	0.07990	T	0.79	-16.6252	4.4506	0.11619	0.0:0.4934:0.1602:0.3463	.	415	Q06418	TYRO3_HUMAN	E	347;415	ENSP00000263798:D415E	ENSP00000263798:D415E	D	+	3	2	TYRO3	39648505	0.774000	0.28592	1.000000	0.80357	0.993000	0.82548	0.450000	0.21762	0.618000	0.30179	0.655000	0.94253	GAC	.		0.577	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2		
UNC13C	440279	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	54825158	54825158	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:54825158G>T	ENST00000260323.11	+	25	5590	c.5590G>T	c.(5590-5592)Gaa>Taa	p.E1864*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E1862*|UNC13C_ENST00000545554.1_Nonsense_Mutation_p.E1864*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1864					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GATGAGTTTCGAACTAAATCA	0.308																																					p.E1864X		.											.	UNC13C-51	0			c.G5590T						.						75.0	71.0	72.0					15																	54825158		1811	4081	5892	SO:0001587	stop_gained	440279	exon24			AGTTTCGAACTAA	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5590G>T	15.37:g.54825158G>T	ENSP00000260323:p.Glu1864*	142	0		116	33	NM_001080534	0	0	0	0	0	Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963702	0.92791	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.59	5.59	0.84812	.	0.055470	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	18.5841	0.91182	0.0:0.0:1.0:0.0	.	.	.	.	X	1864;1864;1862	.	ENSP00000260323:E1864X	E	+	1	0	UNC13C	52612450	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.435000	0.73412	2.631000	0.89168	0.561000	0.74099	GAA	.		0.308	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
CGNL1	84952	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	57731629	57731629	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:57731629G>T	ENST00000281282.5	+	2	1510	c.1432G>T	c.(1432-1434)Gaa>Taa	p.E478*		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	478	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGGTAGTCAGGAAAGTACAGT	0.567																																					p.E478X		.											.	CGNL1-100	0			c.G1432T						.						62.0	62.0	62.0					15																	57731629		2192	4292	6484	SO:0001587	stop_gained	84952	exon3			AGTCAGGAAAGTA	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1432G>T	15.37:g.57731629G>T	ENSP00000281282:p.Glu478*	137	1		171	24	NM_001252335	0	0	0	0	0	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Nonsense_Mutation	SNP	ENST00000281282.5	37	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	37	6.200562	0.97371	.	.	ENSG00000128849	ENST00000281282	.	.	.	5.63	4.71	0.59529	.	4.124770	0.00582	N	0.000326	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-10.5541	16.4069	0.83677	0.0:0.1393:0.8606:0.0	.	.	.	.	X	478	.	ENSP00000281282:E478X	E	+	1	0	CGNL1	55518921	0.137000	0.22531	0.011000	0.14972	0.096000	0.18686	2.755000	0.47540	1.367000	0.46095	0.655000	0.94253	GAA	.		0.567	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866	
VPS13C	54832	bcgsc.ca	37	15	62209759	62209759	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:62209759C>A	ENST00000261517.5	-	60	7909	c.7836G>T	c.(7834-7836)aaG>aaT	p.K2612N	VPS13C_ENST00000395898.3_Missense_Mutation_p.K2569N|RN7SL613P_ENST00000584412.1_RNA|VPS13C_ENST00000249837.3_Missense_Mutation_p.K2569N|VPS13C_ENST00000395896.4_Missense_Mutation_p.K2612N	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAAGTTCTTCCTTCCAGGAAA	0.428																																					p.K2612N		.											.	VPS13C-92	0			c.G7836T						.						92.0	89.0	90.0					15																	62209759		2203	4300	6503	SO:0001583	missense	54832	exon60			TTCTTCCTTCCAG	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.7836G>T	15.37:g.62209759C>A	ENSP00000261517:p.Lys2612Asn	163	2		184	15	NM_020821	0	0	2	3	1		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579833	0.65992	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.52526	0.67;0.66;0.84	5.86	1.84	0.25277	.	0.089637	0.85682	D	0.000000	T	0.53850	0.1822	M	0.72118	2.19	0.53688	D	0.99997	P;B;D;P	0.53619	0.57;0.317;0.961;0.911	B;B;P;P	0.50314	0.138;0.138;0.637;0.467	T	0.58555	-0.7616	10	0.72032	D	0.01	.	11.3327	0.49485	0.0:0.6935:0.0:0.3065	.	2569;2612;2569;2612	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	N	2569;2612;2612;2612	ENSP00000249837:K2569N;ENSP00000261517:K2612N;ENSP00000379233:K2612N	ENSP00000249837:K2569N	K	-	3	2	VPS13C	59997051	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.682000	0.25335	0.380000	0.24823	0.650000	0.86243	AAG	.		0.428	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
TLN2	83660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	63017258	63017258	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:63017258G>T	ENST00000561311.1	+	26	3440	c.3210G>T	c.(3208-3210)aaG>aaT	p.K1070N	TLN2_ENST00000306829.6_Missense_Mutation_p.K1070N			Q9Y4G6	TLN2_HUMAN	talin 2	1070	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGGATGCCAAGATGGCAGCCG	0.527																																					p.K1070N		.											.	TLN2-573	0			c.G3210T						.						57.0	56.0	56.0					15																	63017258		2203	4300	6503	SO:0001583	missense	83660	exon24			TGCCAAGATGGCA	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3210G>T	15.37:g.63017258G>T	ENSP00000453508:p.Lys1070Asn	35	0		56	20	NM_015059	0	0	0	0	0	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051115	0.55218	.	.	ENSG00000171914	ENST00000306829	T	0.68765	-0.35	5.54	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	M	0.73962	2.25	0.53005	D	0.999964	P	0.40398	0.716	P	0.46026	0.501	T	0.69899	-0.5020	10	0.44086	T	0.13	-28.5555	9.8644	0.41134	0.1832:0.0:0.8168:0.0	.	1070	Q9Y4G6	TLN2_HUMAN	N	1070	ENSP00000303476:K1070N	ENSP00000303476:K1070N	K	+	3	2	TLN2	60804550	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.164000	0.58190	2.765000	0.95021	0.655000	0.94253	AAG	.		0.527	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
CLPX	10845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	65443246	65443246	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:65443246G>T	ENST00000300107.3	-	14	2005	c.1817C>A	c.(1816-1818)cCa>cAa	p.P606Q		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	606					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTCTTTTGTTGGAGCCCTACA	0.388																																					p.P606Q		.											.	CLPX-90	0			c.C1817A						.						111.0	113.0	112.0					15																	65443246		2202	4299	6501	SO:0001583	missense	10845	exon14			TTTGTTGGAGCCC	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.1817C>A	15.37:g.65443246G>T	ENSP00000300107:p.Pro606Gln	40	0		37	16	NM_006660	0	0	0	0	0	A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	ENST00000300107.3	37	CCDS10202.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566249	0.45694	.	.	ENSG00000166855	ENST00000300107	T	0.16457	2.34	5.92	5.92	0.95590	.	0.225469	0.45867	D	0.000339	T	0.11239	0.0274	N	0.14661	0.345	0.42886	D	0.994182	B	0.13145	0.007	B	0.08055	0.003	T	0.21690	-1.0238	10	0.21540	T	0.41	.	15.0911	0.72195	0.0:0.0:0.8583:0.1416	.	606	O76031	CLPX_HUMAN	Q	606	ENSP00000300107:P606Q	ENSP00000300107:P606Q	P	-	2	0	CLPX	63230299	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	9.712000	0.98738	2.810000	0.96702	0.585000	0.79938	CCA	.		0.388	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660	
SNAPC5	10302	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	66787699	66787699	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:66787699G>T	ENST00000316634.5	-	2	230	c.149C>A	c.(148-150)tCt>tAt	p.S50Y	SNAPC5_ENST00000566658.1_Intron|SNAPC5_ENST00000563480.2_Missense_Mutation_p.S50Y|SNAPC5_ENST00000395589.2_Missense_Mutation_p.S50Y|SNAPC5_ENST00000307979.7_Intron|MIR4512_ENST00000583257.1_RNA			O75971	SNPC5_HUMAN	small nuclear RNA activating complex, polypeptide 5, 19kDa	50					gene expression (GO:0010467)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)	2						AGTGTGAGAAGACAGCATCTC	0.448																																					p.S50Y		.											.	SNAPC5-90	0			c.C149A						.						184.0	153.0	163.0					15																	66787699		2201	4299	6500	SO:0001583	missense	10302	exon2			TGAGAAGACAGCA	AF093593	CCDS10217.1	15q22	2010-07-08	2002-08-29		ENSG00000174446	ENSG00000174446			15484	protein-coding gene	gene with protein product		605979	"""small nuclear RNA activating complex, polypeptide 5, 19kD"""			9732265	Standard	NM_006049		Approved	SNAP19	uc002apt.1	O75971	OTTHUMG00000133195	ENST00000316634.5:c.149C>A	15.37:g.66787699G>T	ENSP00000319597:p.Ser50Tyr	137	1		149	44	NM_006049	0	0	17	20	3	A8K7N6|Q96CF3	Missense_Mutation	SNP	ENST00000316634.5	37	CCDS10217.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.090040	0.76756	.	.	ENSG00000174446	ENST00000395589;ENST00000316634	.	.	.	5.22	4.24	0.50183	.	1.412510	0.03707	N	0.249606	T	0.59348	0.2187	.	.	.	0.80722	D	1	B	0.27791	0.189	B	0.27715	0.082	T	0.35574	-0.9783	8	0.51188	T	0.08	1.8986	14.2082	0.65748	0.0:0.0:0.7763:0.2237	.	50	O75971	SNPC5_HUMAN	Y	50	.	ENSP00000319597:S50Y	S	-	2	0	SNAPC5	64574753	0.930000	0.31532	0.976000	0.42696	0.464000	0.32679	2.619000	0.46401	2.715000	0.92844	0.655000	0.94253	TCT	.		0.448	SNAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256905.2		
CD276	80381	broad.mit.edu	37	15	73994904	73994904	+	Missense_Mutation	SNP	G	G	T	rs371804365		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:73994904G>T	ENST00000318443.5	+	3	690	c.388G>T	c.(388-390)Ggc>Tgc	p.G130C	CD276_ENST00000561213.1_Missense_Mutation_p.G130C|CD276_ENST00000564751.1_Missense_Mutation_p.G130C|CD276_ENST00000537340.2_5'UTR|CD276_ENST00000318424.5_Missense_Mutation_p.G130C	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	130	Ig-like V-type 1.				cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CCGGGATTTCGGCAGCGCTGC	0.687																																					p.G130C		.											.	CD276-91	0			c.G388T						.						29.0	27.0	28.0					15																	73994904		2197	4291	6488	SO:0001583	missense	80381	exon3			GATTTCGGCAGCG	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19137	protein-coding gene	gene with protein product		605715	"""CD276 antigen"""			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.388G>T	15.37:g.73994904G>T	ENSP00000320084:p.Gly130Cys	70	2		149	17	NM_025240	0	0	107	112	5	Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Missense_Mutation	SNP	ENST00000318443.5	37	CCDS32288.1	.	.	.	.	.	.	.	.	.	.	G	9.704	1.155365	0.21454	.	.	ENSG00000103855	ENST00000318424;ENST00000318443;ENST00000379823	T;T	0.27557	1.66;1.81	2.43	2.43	0.29744	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45196	0.1330	M	0.71871	2.18	0.32180	N	0.580441	D;D;D;D	0.76494	0.997;0.998;0.999;0.998	P;D;D;P	0.65010	0.748;0.931;0.922;0.872	T	0.54282	-0.8317	9	0.59425	D	0.04	.	3.678	0.08299	0.3775:0.0:0.6225:0.0	.	76;130;130;130	B4DK26;Q5ZPR3-2;Q5ZPR3;Q5ZPR3-4	.;.;CD276_HUMAN;.	C	130	ENSP00000320058:G130C;ENSP00000320084:G130C	ENSP00000320058:G130C	G	+	1	0	CD276	71781957	0.994000	0.37717	0.983000	0.44433	0.041000	0.13682	2.887000	0.48586	1.667000	0.50832	0.313000	0.20887	GGC	.		0.687	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240	
CSK	1445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	75091628	75091628	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:75091628G>T	ENST00000220003.9	+	5	987	c.258G>T	c.(256-258)aaG>aaT	p.K86N	CSK_ENST00000439220.2_Missense_Mutation_p.K86N|CSK_ENST00000567571.1_Missense_Mutation_p.K86N|CSK_ENST00000309470.9_Missense_Mutation_p.K86N	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	86	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						TCCACGGCAAGATCACACGGG	0.637																																					p.K86N		.											.	CSK-510	0			c.G258T						.						57.0	55.0	55.0					15																	75091628		2197	4296	6493	SO:0001583	missense	1445	exon6			CGGCAAGATCACA		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"""SH2 domain containing"""	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.258G>T	15.37:g.75091628G>T	ENSP00000220003:p.Lys86Asn	78	0		92	31	NM_001127190	0	0	27	31	4	Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166176	0.57476	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000309470	D;D;D	0.89485	-2.52;-2.52;-2.52	4.46	4.46	0.54185	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.84897	0.5574	N	0.25380	0.74	0.80722	D	1	B	0.28760	0.221	B	0.36244	0.22	T	0.82995	-0.0180	10	0.38643	T	0.18	-26.765	16.8977	0.86105	0.0:0.0:1.0:0.0	.	86	P41240	CSK_HUMAN	N	86	ENSP00000220003:K86N;ENSP00000414764:K86N;ENSP00000438808:K86N	ENSP00000220003:K86N	K	+	3	2	CSK	72878681	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.192000	0.58378	2.323000	0.78572	0.313000	0.20887	AAG	.		0.637	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383	
SNUPN	10073	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	75890858	75890858	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:75890858C>A	ENST00000564644.1	-	10	1502	c.924G>T	c.(922-924)caG>caT	p.Q308H	SNUPN_ENST00000371091.5_Missense_Mutation_p.Q350H|SNUPN_ENST00000308588.5_Missense_Mutation_p.Q308H|SNUPN_ENST00000567134.1_Missense_Mutation_p.Q308H|SNUPN_ENST00000564675.1_Missense_Mutation_p.Q308H|CTD-2323K18.1_ENST00000568707.1_RNA			O95149	SPN1_HUMAN	snurportin 1	308	Necessary for binding to the m3G-cap structure.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						GCTCCATAATCTGCTGGAGCT	0.562																																					p.Q308H		.											.	SNUPN-91	0			c.G924T						.						131.0	133.0	133.0					15																	75890858		2197	4294	6491	SO:0001583	missense	10073	exon9			CATAATCTGCTGG	AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"""RNA, U transporter 1"""	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.924G>T	15.37:g.75890858C>A	ENSP00000454852:p.Gln308His	109	1		98	9	NM_001042581	0	0	33	43	10	A6NE34|A8K0B0|D3DW76	Missense_Mutation	SNP	ENST00000564644.1	37	CCDS10281.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128147	0.77549	.	.	ENSG00000169371	ENST00000308588;ENST00000371091	T;T	0.62941	-0.01;-0.01	5.9	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	M	0.79258	2.445	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.962;0.994	T	0.76143	-0.3067	10	0.56958	D	0.05	-34.1854	9.2723	0.37679	0.0:0.7912:0.0:0.2087	.	350;308	C9K0X5;O95149	.;SPN1_HUMAN	H	308;350	ENSP00000309831:Q308H;ENSP00000360132:Q350H	ENSP00000309831:Q308H	Q	-	3	2	SNUPN	73677913	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.991000	0.49409	0.856000	0.35383	0.555000	0.69702	CAG	.		0.562	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420332.1	NM_005701	
IREB2	3658	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	78732221	78732221	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:78732221A>G	ENST00000258886.8	+	2	253	c.104A>G	c.(103-105)tAt>tGt	p.Y35C	IREB2_ENST00000560440.1_Missense_Mutation_p.Y35C	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	35					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GGCACCAAGTATGGTAATGTT	0.323																																					p.Y35C	NSCLC(200;764 2208 35157 49871 50830)	.											.	IREB2-90	0			c.A104G						.						142.0	119.0	127.0					15																	78732221		2196	4293	6489	SO:0001583	missense	3658	exon2			CCAAGTATGGTAA	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.104A>G	15.37:g.78732221A>G	ENSP00000258886:p.Tyr35Cys	52	0		52	4	NM_004136	0	0	0	0	0	A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548273	0.65311	.	.	ENSG00000136381	ENST00000258886	T	0.17691	2.26	4.92	4.92	0.64577	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (1);	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	M	0.86343	2.81	0.48341	D	0.999633	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.973	T	0.50988	-0.8762	10	0.66056	D	0.02	.	10.9826	0.47504	1.0:0.0:0.0:0.0	.	35;35	P48200;Q8WVK6	IREB2_HUMAN;.	C	35	ENSP00000258886:Y35C	ENSP00000258886:Y35C	Y	+	2	0	IREB2	76519276	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.474000	0.60203	1.845000	0.53610	0.383000	0.25322	TAT	.		0.323	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136	
MESDC1	59274	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	81295513	81295513	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:81295513C>A	ENST00000267984.2	+	1	2219	c.901C>A	c.(901-903)Ctc>Atc	p.L301I		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	301										endometrium(1)|lung(2)	3						GGCCTGCGTGCTCCTGACCCA	0.716																																					p.L301I		.											.	MESDC1-90	0			c.C901A						.						11.0	11.0	11.0					15																	81295513		2196	4284	6480	SO:0001583	missense	59274	exon1			TGCGTGCTCCTGA	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.901C>A	15.37:g.81295513C>A	ENSP00000267984:p.Leu301Ile	27	0		72	25	NM_022566	0	0	15	28	13		Missense_Mutation	SNP	ENST00000267984.2	37	CCDS10316.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.366103	0.61513	.	.	ENSG00000140406	ENST00000267984	T	0.09255	3.0	4.94	4.02	0.46733	.	0.000000	0.64402	U	0.000002	T	0.16128	0.0388	L	0.32530	0.975	0.52501	D	0.999956	D	0.56968	0.978	P	0.56343	0.796	T	0.03184	-1.1063	10	0.27082	T	0.32	-12.5919	12.9661	0.58485	0.0:0.9214:0.0:0.0786	.	301	Q9H1K6	MESD1_HUMAN	I	301	ENSP00000267984:L301I	ENSP00000267984:L301I	L	+	1	0	MESDC1	79082568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.588000	0.67517	1.078000	0.41014	0.448000	0.29417	CTC	.		0.716	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566	
AGBL1	123624	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	86806035	86806035	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:86806035C>A	ENST00000441037.2	+	9	953	c.858C>A	c.(856-858)aaC>aaA	p.N286K	AGBL1_ENST00000389298.3_Missense_Mutation_p.N17K|AGBL1_ENST00000421325.2_Missense_Mutation_p.N286K	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	286					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAGACGTGAACAAGCTGAGTT	0.423																																					p.N286K		.											.	.	0			c.C858A						.						153.0	156.0	155.0					15																	86806035		1974	4165	6139	SO:0001583	missense	123624	exon9			CGTGAACAAGCTG	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.858C>A	15.37:g.86806035C>A	ENSP00000413001:p.Asn286Lys	163	1		195	29	NM_152336	0	0	0	0	0	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470721	0.26423	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.41758	0.99;2.71	5.5	3.43	0.39272	Armadillo-type fold (1);	0.991997	0.08199	N	0.982540	T	0.38081	0.1027	L	0.53249	1.67	0.23559	N	0.997416	B;B	0.20052	0.041;0.001	B;B	0.16722	0.016;0.002	T	0.28870	-1.0030	10	0.44086	T	0.13	-2.3552	6.5407	0.22378	0.1431:0.6299:0.0:0.227	.	17;286	Q96MI9-3;Q96MI9	.;CBPC4_HUMAN	K	315;286;17	ENSP00000397173:N286K;ENSP00000373949:N17K	ENSP00000373949:N17K	N	+	3	2	AGBL1	84607039	0.997000	0.39634	0.863000	0.33907	0.387000	0.30353	0.982000	0.29539	1.321000	0.45227	0.655000	0.94253	AAC	.		0.423	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
KIF7	374654	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	90190829	90190829	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:90190829G>T	ENST00000394412.3	-	6	1634	c.1558C>A	c.(1558-1560)Cag>Aag	p.Q520K		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	520	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CGCCGCACCTGCAGTTTGTAC	0.627											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q520K		.											.	KIF7-523	0			c.C1558A						.						52.0	45.0	47.0					15																	90190829		2200	4299	6499	SO:0001583	missense	374654	exon6			GCACCTGCAGTTT	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1558C>A	15.37:g.90190829G>T	ENSP00000377934:p.Gln520Lys	67	1	1273	60	27	NM_198525	0	0	0	0	0	Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	G	36	5.728353	0.96856	.	.	ENSG00000166813	ENST00000394412	T	0.75154	-0.91	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.84848	0.5563	M	0.74881	2.28	0.58432	D	0.999998	D;D	0.71674	0.998;0.997	D;D	0.78314	0.991;0.98	T	0.81145	-0.1066	10	0.14252	T	0.57	.	18.7126	0.91662	0.0:0.0:1.0:0.0	.	7;520	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	K	520	ENSP00000377934:Q520K	ENSP00000377934:Q520K	Q	-	1	0	KIF7	87991833	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.535000	0.98064	2.418000	0.82041	0.591000	0.81541	CAG	.		0.627	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525	
HAGHL	84264	hgsc.bcm.edu	37	16	778414	778414	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:778414C>A	ENST00000341413.4	+	5	668	c.387C>A	c.(385-387)gcC>gcA	p.A129A	HAGHL_ENST00000564545.1_Intron|HAGHL_ENST00000561546.1_Silent_p.A129A|HAGHL_ENST00000564537.1_Silent_p.A129A|HAGHL_ENST00000549114.1_Silent_p.A129A|HAGHL_ENST00000389703.3_Silent_p.A129A|NARFL_ENST00000562862.1_5'Flank|CCDC78_ENST00000293889.6_5'Flank			Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like	129							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			lung(3)	3		Hepatocellular(780;0.00335)				ACCCACCCGCCCTGTTCTCGG	0.746																																					p.A129A	Pancreas(46;538 1326 12403 32360)	.											.	HAGHL-90	0			c.C387A						.						5.0	6.0	6.0					16																	778414		2038	4076	6114	SO:0001819	synonymous_variant	84264	exon4			ACCCGCCCTGTTC	AK054841	CCDS32354.1	16p13.3	2008-02-05	2003-11-04						14177	protein-coding gene	gene with protein product			"""hydroxyacyl glutathione hydrolase-like"""			12477932	Standard	XM_005255629		Approved	MGC2605	uc002cjo.1	Q6PII5		ENST00000341413.4:c.387C>A	16.37:g.778414C>A		9	0		32	9	NM_032304	0	0	0	0	0	A6NCC4|D3DU64|Q59FX8|Q96BZ3|Q96NR5|Q96S11|Q9BT45	Silent	SNP	ENST00000341413.4	37		.	.	.	.	.	.	.	.	.	.	C	2.490	-0.317703	0.05386	.	.	ENSG00000103253	ENST00000389701	.	.	.	4.42	-0.77	0.11005	.	.	.	.	.	T	0.59824	0.2222	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60203	-0.7309	5	0.87932	D	0	-7.0616	6.6436	0.22923	0.0:0.3996:0.3353:0.265	.	.	.	.	T	157	.	ENSP00000374351:P157T	P	+	1	0	HAGHL	718415	0.001000	0.12720	0.058000	0.19502	0.520000	0.34377	-1.828000	0.01702	-0.016000	0.14127	0.561000	0.74099	CCT	.		0.746	HAGHL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409607.1	NM_032304	
PTX4	390667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	1537885	1537885	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:1537885G>T	ENST00000447419.2	-	2	253	c.228C>A	c.(226-228)ttC>ttA	p.F76L	PTX4_ENST00000293922.1_Missense_Mutation_p.F71L|PTX4_ENST00000440447.2_Missense_Mutation_p.F76L			Q96A99	PTX4_HUMAN	pentraxin 4, long	76						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCAGGCTCCGGAACCGGACGT	0.617																																					p.F71L		.											.	PTX4-90	0			c.C213A						.						100.0	101.0	100.0					16																	1537885		2190	4288	6478	SO:0001583	missense	390667	exon2			GCTCCGGAACCGG		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.228C>A	16.37:g.1537885G>T	ENSP00000445277:p.Phe76Leu	141	0		192	25	NM_001013658	0	0	0	0	0		Missense_Mutation	SNP	ENST00000447419.2	37		.	.	.	.	.	.	.	.	.	.	G	9.930	1.214509	0.22289	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.10763	2.93;2.84	5.78	4.82	0.62117	.	0.297978	0.31082	N	0.008281	T	0.12263	0.0298	L	0.54323	1.7	0.45806	D	0.998689	B	0.29115	0.233	B	0.25614	0.062	T	0.03051	-1.1078	10	0.48119	T	0.1	.	12.1603	0.54101	0.0:0.0:0.8288:0.1712	.	71	Q96A99-2	.	L	76;71	ENSP00000445277:F76L;ENSP00000293922:F71L	ENSP00000293922:F71L	F	-	3	2	PTX4	1477886	1.000000	0.71417	0.163000	0.22734	0.019000	0.09904	2.118000	0.41949	1.432000	0.47375	0.563000	0.77884	TTC	.		0.617	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658	
CREBBP	1387	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	3843582	3843582	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:3843582C>A	ENST00000262367.5	-	4	1830	c.1021G>T	c.(1021-1023)Gca>Tca	p.A341S	CREBBP_ENST00000382070.3_Missense_Mutation_p.A341S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	341	Interaction with SRCAP.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGCCTGTTGCAATTGCTTGT	0.413			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.A341S		.		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	CREBBP-1807	0			c.G1021T						.						179.0	145.0	156.0					16																	3843582		2197	4300	6497	SO:0001583	missense	1387	exon4			CTGTTGCAATTGC	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1021G>T	16.37:g.3843582C>A	ENSP00000262367:p.Ala341Ser	130	1		116	34	NM_001079846	0	0	2	3	1	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291526	0.59976	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83506	-1.73;-1.63	5.91	4.96	0.65561	Zinc finger, TAZ-type (1);	0.177306	0.39407	N	0.001370	T	0.66925	0.2839	N	0.04880	-0.145	0.39740	D	0.97173	B;B	0.31026	0.304;0.118	B;B	0.31547	0.132;0.082	T	0.65442	-0.6167	10	0.16420	T	0.52	-5.3158	15.2399	0.73461	0.0:0.9329:0.0:0.0671	.	409;341	Q4LE28;Q92793	.;CBP_HUMAN	S	341;409;341	ENSP00000262367:A341S;ENSP00000371502:A341S	ENSP00000262367:A341S	A	-	1	0	CREBBP	3783583	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.742000	0.38248	1.499000	0.48617	0.655000	0.94253	GCA	.		0.413	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
RSL1D1	26156	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	11940360	11940360	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:11940360G>T	ENST00000571133.1	-	5	705	c.633C>A	c.(631-633)tgC>tgA	p.C211*	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	211					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTACCTACCTGCAAGAACCAC	0.313																																					p.C211X		.											.	RSL1D1-90	0			c.C633A						.						82.0	79.0	80.0					16																	11940360		2197	4300	6497	SO:0001587	stop_gained	26156	exon5			CTACCTGCAAGAA	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.633C>A	16.37:g.11940360G>T	ENSP00000460871:p.Cys211*	65	0		113	27	NM_015659	0	0	0	0	0	B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Nonsense_Mutation	SNP	ENST00000571133.1	37	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605680	0.87157	.	.	ENSG00000171490	ENST00000355674;ENST00000396503	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.9139	10.1551	0.42818	0.0907:0.0:0.9093:0.0	.	.	.	.	X	211	.	ENSP00000347897:C211X	C	-	3	2	RSL1D1	11847861	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.491000	0.45303	2.502000	0.84385	0.555000	0.69702	TGC	.		0.313	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659	
PDXDC1	23042	ucsc.edu;bcgsc.ca;mdanderson.org	37	16	15102644	15102644	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:15102644G>T	ENST00000396410.4	+	7	685	c.588G>T	c.(586-588)ttG>ttT	p.L196F	PDXDC1_ENST00000569715.1_Missense_Mutation_p.L169F|PDXDC1_ENST00000535621.2_Missense_Mutation_p.L196F|PDXDC1_ENST00000455313.2_Intron|MIR1972-1_ENST00000459337.1_RNA|PDXDC1_ENST00000447912.2_Missense_Mutation_p.L105F|PDXDC1_ENST00000450288.2_Missense_Mutation_p.L168F|PDXDC1_ENST00000563679.1_Missense_Mutation_p.L214F|PDXDC1_ENST00000325823.7_Missense_Mutation_p.L181F	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	196					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCTCGGCTTGCCCTTCCCCT	0.463																																					p.L196F		.											.	PDXDC1-91	0			c.G588T						.						347.0	291.0	310.0					16																	15102644		2197	4300	6497	SO:0001583	missense	23042	exon7			CGGCTTGCCCTTC	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.588G>T	16.37:g.15102644G>T	ENSP00000379691:p.Leu196Phe	255	3		254	33	NM_015027	0	0	0	0	0	B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921213	0.73213	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.8	-1.53	0.08611	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.64402	D	0.000001	T	0.47192	0.1432	L	0.53671	1.685	0.53005	D	0.999965	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.45556	-0.9253	10	0.38643	T	0.18	-9.0105	2.8395	0.05525	0.4126:0.1099:0.3654:0.1121	.	168;105;181;196;168;196	E7EPL4;E7EMH5;B4DHL7;Q86XE2;B4DR55;Q6P996	.;.;.;.;.;PDXD1_HUMAN	F	181;105;196;196;168	ENSP00000322807:L181F;ENSP00000400310:L105F;ENSP00000437835:L196F;ENSP00000379691:L196F;ENSP00000391147:L168F	ENSP00000322807:L181F	L	+	3	2	PDXDC1	15010145	0.962000	0.33011	0.998000	0.56505	0.939000	0.58152	0.065000	0.14466	0.091000	0.17302	-0.142000	0.14014	TTG	.		0.463	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027	
RRN3	54700	broad.mit.edu	37	16	15188066	15188066	+	Missense_Mutation	SNP	G	G	A	rs200006712		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:15188066G>A	ENST00000198767.6	-	1	108	c.25C>T	c.(25-27)Cgt>Tgt	p.R9C	RRN3_ENST00000564131.1_Missense_Mutation_p.R9C|RRN3_ENST00000327307.7_5'Flank|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000563559.1_Missense_Mutation_p.R9C|RP11-72I8.1_ENST00000569858.1_RNA|RRN3_ENST00000429751.2_Missense_Mutation_p.R9C	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	9					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R9C(3)		NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CCCGGCAAACGCGTGTGAAGC	0.642																																					p.R9C		.											.	RRN3-91	3	Substitution - Missense(3)	lung(1)|prostate(1)|central_nervous_system(1)	c.C25T						.						15.0	13.0	14.0					16																	15188066		2194	4290	6484	SO:0001583	missense	54700	exon1			GCAAACGCGTGTG	AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.25C>T	16.37:g.15188066G>A	ENSP00000198767:p.Arg9Cys	179	0		220	7	NM_018427	0	0	1	1	0	A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	ENST00000198767.6	37	CCDS10559.1	.	.	.	.	.	.	.	.	.	.	.	18.86	3.712820	0.68730	.	.	ENSG00000085721	ENST00000198767;ENST00000429751	T;T	0.59906	0.68;0.23	3.13	3.13	0.36017	.	.	.	.	.	T	0.59032	0.2164	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.77557	0.988;0.99;0.982	T	0.62627	-0.6814	9	0.87932	D	0	.	9.8894	0.41281	0.0:0.0:1.0:0.0	.	9;9;9	F5H148;Q3MHU9;Q9NYV6	.;.;RRN3_HUMAN	C	9	ENSP00000198767:R9C;ENSP00000402027:R9C	ENSP00000198767:R9C	R	-	1	0	RRN3	15095567	1.000000	0.71417	0.965000	0.40720	0.035000	0.12851	2.717000	0.47227	1.752000	0.51891	0.305000	0.20034	CGT	G|0.997;A|0.003		0.642	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427	
ACSM3	6296	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	20787314	20787314	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:20787314C>A	ENST00000289416.5	+	3	848	c.373C>A	c.(373-375)Ctg>Atg	p.L125M	ACSM3_ENST00000450120.2_Missense_Mutation_p.L80M|ACSM3_ENST00000440284.2_Missense_Mutation_p.L125M	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	125					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TCGGGTAATTCTGATTCTGCC	0.453																																					p.L125M		.											.	ACSM3-91	0			c.C373A						.						90.0	93.0	92.0					16																	20787314		2201	4300	6501	SO:0001583	missense	6296	exon3			GTAATTCTGATTC	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.373C>A	16.37:g.20787314C>A	ENSP00000289416:p.Leu125Met	100	0		134	12	NM_005622	0	0	121	125	4	O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.817035	0.32145	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.52057	0.68;0.68;0.68	5.81	-4.33	0.03677	AMP-dependent synthetase/ligase (1);	0.790188	0.11719	N	0.536046	T	0.35219	0.0924	L	0.55103	1.725	0.09310	N	1	B;B;P	0.41366	0.287;0.287;0.747	B;B;B	0.41466	0.292;0.2;0.358	T	0.25745	-1.0123	10	0.56958	D	0.05	-10.8026	1.8911	0.03248	0.1487:0.1778:0.3194:0.354	.	80;125;125	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	M	125;125;80	ENSP00000289416:L125M;ENSP00000394565:L125M;ENSP00000395297:L80M	ENSP00000289416:L125M	L	+	1	2	ACSM3	20694815	0.000000	0.05858	0.068000	0.19968	0.725000	0.41563	-1.688000	0.01925	-0.666000	0.05310	-1.468000	0.01013	CTG	.		0.453	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622	
GGA2	23062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	23491135	23491135	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:23491135C>A	ENST00000309859.4	-	11	1162	c.1080G>T	c.(1078-1080)caG>caT	p.Q360H	GGA2_ENST00000569182.1_5'UTR|GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	360	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		CAGTCCCCATCTGCGCAGGTC	0.577																																					p.Q360H		.											.	GGA2-91	0			c.G1080T						.						125.0	91.0	102.0					16																	23491135		2197	4300	6497	SO:0001583	missense	23062	exon11			CCCCATCTGCGCA	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1080G>T	16.37:g.23491135C>A	ENSP00000311962:p.Gln360His	97	0		117	26	NM_015044	0	0	43	60	17	D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	C	2.596	-0.294026	0.05568	.	.	ENSG00000103365	ENST00000309859	T	0.15256	2.44	4.05	2.0	0.26442	.	1.580660	0.03211	N	0.176190	T	0.17238	0.0414	L	0.47716	1.5	0.22354	N	0.999172	B	0.10296	0.003	B	0.06405	0.002	T	0.24512	-1.0158	10	0.44086	T	0.13	-0.8429	4.7697	0.13150	0.2124:0.6746:0.0:0.113	.	360	Q9UJY4	GGA2_HUMAN	H	360	ENSP00000311962:Q360H	ENSP00000311962:Q360H	Q	-	3	2	GGA2	23398636	0.078000	0.21339	0.120000	0.21714	0.041000	0.13682	0.168000	0.16622	0.451000	0.26802	0.655000	0.94253	CAG	.		0.577	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1		
IL21R	50615	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	27454345	27454345	+	Missense_Mutation	SNP	C	C	A	rs146177564	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:27454345C>A	ENST00000337929.3	+	5	888	c.415C>A	c.(415-417)Cgc>Agc	p.R139S	IL21R_ENST00000395754.4_Missense_Mutation_p.R139S|IL21R_ENST00000395755.1_Missense_Mutation_p.R139S|IL21R_ENST00000564089.1_Missense_Mutation_p.R139S	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	139	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TATCTCCTGGCGCTCAGATTA	0.527			T	BCL6	NHL																																p.R161S		.		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	.	IL21R-660	0			c.C481A						.						111.0	105.0	107.0					16																	27454345		2197	4300	6497	SO:0001583	missense	50615	exon6			TCCTGGCGCTCAG	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.415C>A	16.37:g.27454345C>A	ENSP00000338010:p.Arg139Ser	175	2		221	50	NM_181079	0	0	0	1	1	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.611081	0.00835	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	D;D;D	0.95656	-3.77;-3.77;-3.77	4.7	-0.192	0.13248	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.834416	0.11201	N	0.588793	T	0.74374	0.3708	N	0.00237	-1.79	0.19945	N	0.999943	B	0.11235	0.004	B	0.09377	0.004	T	0.71220	-0.4657	10	0.07813	T	0.8	-2.3898	0.7673	0.01017	0.4063:0.2191:0.229:0.1456	.	139	Q9HBE5	IL21R_HUMAN	S	139	ENSP00000338010:R139S;ENSP00000379104:R139S;ENSP00000379103:R139S	ENSP00000338010:R139S	R	+	1	0	IL21R	27361846	0.007000	0.16637	0.165000	0.22776	0.018000	0.09664	-0.190000	0.09615	-0.313000	0.08728	-0.350000	0.07774	CGC	C|1.000;T|0.000		0.527	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078	
KCTD13	253980	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	29918291	29918291	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:29918291C>A	ENST00000568000.1	-	6	1893	c.892G>T	c.(892-894)Gaa>Taa	p.E298*		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	298					cell migration (GO:0016477)|DNA replication (GO:0006260)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)	GTP-Rho binding (GO:0017049)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						CGGTTCTCTTCATCCTCCCCG	0.637																																					p.E298X		.											.	KCTD13-90	0			c.G892T						.						99.0	94.0	96.0					16																	29918291		2197	4300	6497	SO:0001587	stop_gained	253980	exon6			TCTCTTCATCCTC	AF289573	CCDS10661.1	16p11.2	2013-06-20	2013-06-20		ENSG00000174943	ENSG00000174943			22234	protein-coding gene	gene with protein product	"""polymerase delta-interacting protein 1"", ""TNFAIP1-like"""	608947	"""potassium channel tetramerisation domain containing 13"""			11593007	Standard	NM_178863		Approved	PDIP1, FKSG86, POLDIP1	uc002duv.4	Q8WZ19	OTTHUMG00000132120	ENST00000568000.1:c.892G>T	16.37:g.29918291C>A	ENSP00000455785:p.Glu298*	110	0		147	21	NM_178863	0	0	45	51	6	A8K0R5|Q96P93|Q96SA1	Nonsense_Mutation	SNP	ENST00000568000.1	37	CCDS10661.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533919	0.85812	.	.	ENSG00000174943	ENST00000308768	.	.	.	5.0	5.0	0.66597	.	0.305918	0.23722	N	0.045217	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-5.424	17.0687	0.86567	0.0:1.0:0.0:0.0	.	.	.	.	X	298	.	ENSP00000311202:E298X	E	-	1	0	KCTD13	29825792	1.000000	0.71417	0.996000	0.52242	0.638000	0.38207	7.794000	0.85869	2.315000	0.78130	0.467000	0.42956	GAA	.		0.637	KCTD13-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255162.2	NM_178863	
GDPD3	79153	broad.mit.edu	37	16	30123477	30123477	+	Silent	SNP	C	C	A	rs150465018		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:30123477C>A	ENST00000406256.3	-	6	926	c.549G>T	c.(547-549)tcG>tcT	p.S183S	MAPK3_ENST00000494643.1_5'Flank|RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	183	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						TCTTCATGACCGAGCTCTTCT	0.622											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S183S		.											.	GDPD3-90	0			c.G549T						.						60.0	57.0	58.0					16																	30123477		2197	4300	6497	SO:0001819	synonymous_variant	79153	exon6			CATGACCGAGCTC	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.549G>T	16.37:g.30123477C>A		88	2	814	123	20	NM_024307	0	0	1	1	0	Q9H652	Silent	SNP	ENST00000406256.3	37	CCDS10671.2																																																																																			C|1.000;T|0.000		0.622	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307	
CORO1A	11151	broad.mit.edu	37	16	30198031	30198031	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:30198031G>T	ENST00000219150.5	+	3	616	c.311G>T	c.(310-312)tGc>tTc	p.C104F	CORO1A_ENST00000565497.1_Missense_Mutation_p.C104F|RP11-455F5.5_ENST00000567153.1_RNA|RP11-455F5.5_ENST00000568506.1_RNA|RP11-455F5.5_ENST00000566144.1_RNA|CORO1A_ENST00000570045.1_Missense_Mutation_p.C104F	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	104					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						TCCGAGGACTGCACAGTCATG	0.612																																					p.C104F		.											.	CORO1A-226	0			c.G311T						.						41.0	32.0	35.0					16																	30198031		2197	4300	6497	SO:0001583	missense	11151	exon4			AGGACTGCACAGT	X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"""Coronins"", ""WD repeat domain containing"""	2252	protein-coding gene	gene with protein product	"""Clabp TACO"""	605000	"""coronin, actin-binding protein, 1A"""			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.311G>T	16.37:g.30198031G>T	ENSP00000219150:p.Cys104Phe	38	1		73	4	NM_001193333	0	0	0	0	0	B2RBL1|Q2YD73	Missense_Mutation	SNP	ENST00000219150.5	37	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	18.91	3.723877	0.68959	.	.	ENSG00000102879	ENST00000219150	T	0.60797	0.16	5.67	4.66	0.58398	WD40/YVTN repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.110740	0.64402	D	0.000003	T	0.66479	0.2793	L	0.38175	1.15	0.58432	D	0.999994	D;D;D	0.76494	0.999;0.997;0.998	D;D;D	0.69824	0.926;0.966;0.926	T	0.69157	-0.5219	10	0.87932	D	0	-1.1383	15.0419	0.71796	0.0:0.1428:0.8572:0.0	.	104;138;104	B4DJS1;Q59G88;P31146	.;.;COR1A_HUMAN	F	104	ENSP00000219150:C104F	ENSP00000219150:C104F	C	+	2	0	CORO1A	30105532	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.033000	0.41136	2.697000	0.92050	0.655000	0.94253	TGC	.		0.612	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074	
ZNF768	79724	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	30535865	30535865	+	Missense_Mutation	SNP	C	C	A	rs565599059		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:30535865C>A	ENST00000380412.5	-	2	1771	c.1596G>T	c.(1594-1596)caG>caT	p.Q532H	ZNF768_ENST00000562803.1_Missense_Mutation_p.Q501H	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	532					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CGTGGGTCCGCTGGTGGCGGA	0.667																																					p.Q532H		.											.	ZNF768-90	0			c.G1596T						.						31.0	34.0	33.0					16																	30535865		2196	4296	6492	SO:0001583	missense	79724	exon2			GGTCCGCTGGTGG	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1596G>T	16.37:g.30535865C>A	ENSP00000369777:p.Gln532His	15	0		134	47	NM_024671	0	0	90	139	49	Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020303	0.54576	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.07688	3.17	4.81	3.78	0.43462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.201339	0.24962	N	0.034206	T	0.21841	0.0526	M	0.71036	2.16	0.36083	D	0.842928	D	0.61080	0.989	D	0.66847	0.947	T	0.03945	-1.0990	10	0.66056	D	0.02	-5.6033	7.1489	0.25599	0.0:0.8767:0.0:0.1233	.	532	Q9H5H4	ZN768_HUMAN	H	532;445	ENSP00000369777:Q532H	ENSP00000369777:Q532H	Q	-	3	2	ZNF768	30443366	0.000000	0.05858	1.000000	0.80357	0.941000	0.58515	0.594000	0.24014	2.518000	0.84900	0.511000	0.50034	CAG	.		0.667	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671	
BCKDK	10295	broad.mit.edu;bcgsc.ca	37	16	31121421	31121421	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:31121421C>A	ENST00000394951.1	+	6	1022	c.399C>A	c.(397-399)ttC>ttA	p.F133L	BCKDK_ENST00000219794.6_Missense_Mutation_p.F133L|BCKDK_ENST00000394950.3_Missense_Mutation_p.F133L|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000287507.3_Missense_Mutation_p.F133L			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	133					branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						TCCGTGCCTTCCAGAAGCTGA	0.582																																					p.F133L		.											.	BCKDK-765	0			c.C399A						.						111.0	106.0	108.0					16																	31121421		2197	4300	6497	SO:0001583	missense	10295	exon5			TGCCTTCCAGAAG	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.399C>A	16.37:g.31121421C>A	ENSP00000378405:p.Phe133Leu	168	0		196	8	NM_005881	0	0	134	137	3	A8MY43|Q6FGL4|Q96G95|Q96IN5	Missense_Mutation	SNP	ENST00000394951.1	37	CCDS10705.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555228	0.86231	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950;ENST00000287507	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.62	5.62	0.85841	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.048335	0.85682	D	0.000000	T	0.46946	0.1419	L	0.56199	1.76	0.54753	D	0.999985	P;P	0.52692	0.955;0.955	P;P	0.52424	0.698;0.698	T	0.15752	-1.0426	10	0.20519	T	0.43	-10.0363	18.413	0.90558	0.0:1.0:0.0:0.0	.	133;133	Q96G95;O14874	.;BCKD_HUMAN	L	133	ENSP00000378405:F133L;ENSP00000219794:F133L;ENSP00000378404:F133L;ENSP00000287507:F133L	ENSP00000219794:F133L	F	+	3	2	BCKDK	31028922	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.033000	0.57282	2.651000	0.90000	0.561000	0.74099	TTC	.		0.582	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881	
ITGAM	3684	ucsc.edu;bcgsc.ca	37	16	31336693	31336693	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:31336693G>T	ENST00000287497.8	+	20	2548	c.2473G>T	c.(2473-2475)Gac>Tac	p.D825Y	ITGAM_ENST00000544665.3_Missense_Mutation_p.D826Y			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	825					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTTCCCGCTTGACCTGTCCTA	0.577																																					p.D826Y		.											.	ITGAM-226	0			c.G2476T						.						76.0	80.0	79.0					16																	31336693		2115	4234	6349	SO:0001583	missense	3684	exon20			CCGCTTGACCTGT	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2473G>T	16.37:g.31336693G>T	ENSP00000287497:p.Asp825Tyr	162	2		190	85	NM_001145808	0	0	1	3	2	Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311888	0.40895	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.46451	0.87;0.87	5.03	5.03	0.67393	Integrin alpha-2 (1);	.	.	.	.	T	0.37839	0.1018	N	0.08118	0	0.25207	N	0.990008	P;P;P	0.43607	0.812;0.812;0.812	P;P;P	0.49477	0.612;0.612;0.612	T	0.44034	-0.9354	9	0.87932	D	0	.	17.2907	0.87156	0.0:0.0:1.0:0.0	.	231;825;825	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	Y	826;825	ENSP00000441691:D826Y;ENSP00000287497:D825Y	ENSP00000287497:D825Y	D	+	1	0	ITGAM	31244194	1.000000	0.71417	0.579000	0.28588	0.080000	0.17528	5.554000	0.67294	2.610000	0.88304	0.655000	0.94253	GAC	.		0.577	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	
ZNF267	10308	hgsc.bcm.edu	37	16	31927495	31927495	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:31927495A>G	ENST00000300870.10	+	4	2134	c.1925A>G	c.(1924-1926)aAc>aGc	p.N642S		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	642					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAGCCTTCAACTATAGGTCA	0.428																																					p.N642S		.											.	ZNF267-138	0			c.A1925G						.						74.0	76.0	75.0					16																	31927495		2197	4300	6497	SO:0001583	missense	10308	exon4			CCTTCAACTATAG	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1925A>G	16.37:g.31927495A>G	ENSP00000300870:p.Asn642Ser	102	0		99	5	NM_003414	0	0	11	11	0	A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	4.101	0.016729	0.07959	.	.	ENSG00000185947	ENST00000300870	T	0.07216	3.21	0.468	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03011	0.0089	N	0.05467	-0.045	0.09310	N	0.999997	B	0.11235	0.004	B	0.08055	0.003	T	0.45833	-0.9234	9	0.02654	T	1	.	5.2175	0.15350	0.9999:0.0:1.0E-4:0.0	.	642	Q14586	ZN267_HUMAN	S	642	ENSP00000300870:N642S	ENSP00000300870:N642S	N	+	2	0	ZNF267	31834996	0.000000	0.05858	0.166000	0.22797	0.148000	0.21650	-3.202000	0.00560	0.413000	0.25759	0.402000	0.26972	AAC	.		0.428	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414	
IRX3	79191	hgsc.bcm.edu	37	16	54318528	54318528	+	Missense_Mutation	SNP	A	A	G	rs1450355	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:54318528A>G	ENST00000329734.3	-	2	1977	c.1265T>C	c.(1264-1266)cTg>cCg	p.L422P		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	422	Pro-rich.		L -> P (in dbSNP:rs1450355). {ECO:0000269|PubMed:15489334}.		mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GAGCGGGTGCAGGCGGGGGCC	0.776													g|||	4851	0.96865	0.888	0.987	5008	,	,		8017	1.0		1.0	False		,,,				2504	1.0				p.L422P	GBM(143;1830 1866 4487 4646 37383)	.											.	IRX3-90	0			c.T1265C						.	T	PRO/LEU	1678,102		788,102,0	1.0	2.0	2.0		1265	2.5	1.0	16	dbSNP_88	2	4195,3		2096,3,0	no	missense	IRX3	NM_024336.2	98	2884,105,0	GG,GA,AA		0.0715,5.7303,1.7564	benign	422/502	54318528	5873,105	890	2099	2989	SO:0001583	missense	79191	exon2			GGGTGCAGGCGGG	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.1265T>C	16.37:g.54318528A>G	ENSP00000331608:p.Leu422Pro	0	0		6	6	NM_024336	0	0	0	0	0	Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	CCDS10750.1	2108	0.9652014652014652	433	0.8800813008130082	354	0.9779005524861878	567	0.9912587412587412	754	0.9947229551451188	g	5.642	0.303067	0.10678	0.942697	0.999285	ENSG00000177508	ENST00000329734	T	0.54279	0.58	4.4	2.45	0.29901	.	0.652897	0.14990	N	0.286760	T	0.00012	0.0000	N	0.01352	-0.895	0.29914	P	0.82336	B	0.02656	0.0	B	0.01281	0.0	T	0.21861	-1.0233	9	0.33940	T	0.23	-4.0049	5.143	0.14969	0.1733:0.0:0.6627:0.164	rs1450355;rs17852160;rs60836119	422	P78415	IRX3_HUMAN	P	422	ENSP00000331608:L422P	ENSP00000331608:L422P	L	-	2	0	IRX3	52876029	1.000000	0.71417	0.984000	0.44739	0.000000	0.00434	1.455000	0.35190	0.155000	0.19261	-1.528000	0.00924	CTG	T|0.035;G|0.004		0.776	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2		
DRC7	84229	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	57732903	57732903	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:57732903C>A	ENST00000360716.3	+	4	566	c.345C>A	c.(343-345)ctC>ctA	p.L115L	CCDC135_ENST00000336825.8_Silent_p.L115L|CCDC135_ENST00000394337.4_Silent_p.L115L|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN		115					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GCGTGCCCCTCTTCCTGCACC	0.617																																					p.L115L		.											.	CCDC135-90	0			c.C345A						.						142.0	139.0	140.0					16																	57732903		2198	4300	6498	SO:0001819	synonymous_variant	84229	exon3			GCCCCTCTTCCTG																												ENST00000360716.3:c.345C>A	16.37:g.57732903C>A		115	1		125	12	NM_032269	0	0	0	0	0	A8K943|Q8NAA0|Q9H080	Silent	SNP	ENST00000360716.3	37	CCDS10787.1																																																																																			.		0.617	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2		
CNGB1	1258	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	57935280	57935280	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:57935280C>A	ENST00000251102.8	-	29	3012	c.2952G>T	c.(2950-2952)ctG>ctT	p.L984L	CNGB1_ENST00000564448.1_Silent_p.L978L	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	984					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						AGTCGTTGGGCAGGTAGACAA	0.557																																					p.L984L	Colon(156;1293 1853 16336 28962 38659)	.											.	CNGB1-137	0			c.G2952T						.						144.0	144.0	144.0					16																	57935280		2015	4178	6193	SO:0001819	synonymous_variant	1258	exon29			GTTGGGCAGGTAG	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2952G>T	16.37:g.57935280C>A		88	0		143	16	NM_001297	0	0	0	0	0	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	CCDS42169.1																																																																																			.		0.557	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297	
LRRC29	26231	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	67241849	67241849	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:67241849A>T	ENST00000409037.1	-	3	1326	c.430T>A	c.(430-432)Tgg>Agg	p.W144R	LRRC29_ENST00000409509.1_Missense_Mutation_p.W144R|LRRC29_ENST00000393992.1_Missense_Mutation_p.W144R|LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000341546.3_Missense_Mutation_p.W144R			Q8WV35	LRC29_HUMAN	leucine rich repeat containing 29	144	F-box.									autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCCTGGGCCCAGCCCTTGTCA	0.612																																					p.W144R		.											.	LRRC29-226	0			c.T430A						.						34.0	35.0	35.0					16																	67241849		2198	4300	6498	SO:0001583	missense	26231	exon5			GGGCCCAGCCCTT	AF176701	CCDS32465.1	16q22.1	2008-02-05	2004-08-23	2004-08-26	ENSG00000125122	ENSG00000125122			13605	protein-coding gene	gene with protein product			"""F-box and leucine-rich repeat protein 9"""	FBXL9		10531037	Standard	NM_012163		Approved	FBL9	uc002esf.3	Q8WV35	OTTHUMG00000154403	ENST00000409037.1:c.430T>A	16.37:g.67241849A>T	ENSP00000387318:p.Trp144Arg	89	1		108	15	NM_001004055	0	0	4	4	0	B2RE92|Q9UKA0	Missense_Mutation	SNP	ENST00000409037.1	37	CCDS32465.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943663	0.73672	.	.	ENSG00000125122	ENST00000409509;ENST00000393992;ENST00000409037;ENST00000341546;ENST00000433915;ENST00000424285	T;T;T;T;T;T	0.02345	4.33;4.33;4.33;4.33;4.33;4.33	5.57	5.57	0.84162	.	0.493065	0.21084	N	0.080431	T	0.09202	0.0227	L	0.41236	1.265	0.26917	N	0.966755	D	0.71674	0.998	D	0.71184	0.972	T	0.07731	-1.0757	10	0.62326	D	0.03	.	12.1183	0.53878	1.0:0.0:0.0:0.0	.	144	Q8WV35	LRC29_HUMAN	R	144;144;144;144;96;144	ENSP00000386622:W144R;ENSP00000377561:W144R;ENSP00000387318:W144R;ENSP00000344364:W144R;ENSP00000413129:W96R;ENSP00000409459:W144R	ENSP00000344364:W144R	W	-	1	0	LRRC29	65799350	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.348000	0.52209	2.115000	0.64714	0.533000	0.62120	TGG	.		0.612	LRRC29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335073.1	NM_012163	
KCTD19	146212	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	67333415	67333415	+	Missense_Mutation	SNP	G	G	T	rs369820775		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:67333415G>T	ENST00000304372.5	-	6	892	c.837C>A	c.(835-837)agC>agA	p.S279R	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	279					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CGGACTCCAGGCTGGCTGTGC	0.647																																					p.S279R		.											.	KCTD19-69	0			c.C837A						.						77.0	86.0	84.0					16																	67333415		1945	4134	6079	SO:0001583	missense	146212	exon6			CTCCAGGCTGGCT	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.837C>A	16.37:g.67333415G>T	ENSP00000305702:p.Ser279Arg	57	1		86	9	NM_001100915	0	0	0	0	0	B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	G	6.375	0.437342	0.12104	.	.	ENSG00000168676	ENST00000304372	T	0.58940	0.3	5.77	1.48	0.22813	.	0.544274	0.19304	N	0.117577	T	0.25457	0.0619	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14504	-1.0470	10	0.15066	T	0.55	-10.405	4.4347	0.11545	0.2672:0.1655:0.5673:0.0	.	279	Q17RG1	KCD19_HUMAN	R	279	ENSP00000305702:S279R	ENSP00000305702:S279R	S	-	3	2	KCTD19	65890916	0.007000	0.16637	0.160000	0.22671	0.011000	0.07611	0.460000	0.21924	0.402000	0.25451	0.655000	0.94253	AGC	.		0.647	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367	
VAC14	55697	bcgsc.ca	37	16	70726795	70726795	+	Silent	SNP	C	C	A	rs2278983	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:70726795C>A	ENST00000261776.5	-	18	2375	c.2115G>T	c.(2113-2115)ccG>ccT	p.P705P	VAC14_ENST00000571759.1_5'Flank|VAC14_ENST00000536184.2_Silent_p.P137P	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	705					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CGCTGCTCTGCGGCAGGAGCA	0.667													C|||	1216	0.242812	0.028	0.3401	5008	,	,		18619	0.1657		0.4901	False		,,,				2504	0.2894				p.P705P		.											.	VAC14-227	0			c.G2115T						.	C		412,3980	188.1+/-214.6	22,368,1806	41.0	42.0	42.0		2115	-3.3	1.0	16	dbSNP_100	42	4024,4576	534.8+/-382.7	922,2180,1198	no	coding-synonymous	VAC14	NM_018052.3		944,2548,3004	AA,AC,CC		46.7907,9.3807,34.1441		705/783	70726795	4436,8556	2196	4300	6496	SO:0001819	synonymous_variant	55697	exon18			GCTCTGCGGCAGG	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.2115G>T	16.37:g.70726795C>A		59	0		133	5	NM_018052	0	0	76	76	0	B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Silent	SNP	ENST00000261776.5	37	CCDS10896.1																																																																																			A|0.318;C|0.681;T|0.000		0.667	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052	
HYDIN	54768	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	71209570	71209570	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:71209570G>T	ENST00000393567.2	-	5	606	c.456C>A	c.(454-456)caC>caA	p.H152Q	HYDIN_ENST00000541601.1_Missense_Mutation_p.H169Q|HYDIN_ENST00000448089.2_Missense_Mutation_p.H152Q|HYDIN_ENST00000393550.2_Missense_Mutation_p.H152Q|HYDIN_ENST00000538248.1_Missense_Mutation_p.H179Q|HYDIN_ENST00000288168.10_Missense_Mutation_p.H169Q|HYDIN_ENST00000321489.5_Missense_Mutation_p.H152Q|HYDIN_ENST00000448691.1_Missense_Mutation_p.H152Q	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	152					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAGCCACTTTGTGGCCAATAT	0.443																																					p.H179Q		.											.	HYDIN-92	0			c.C537A						.						125.0	127.0	126.0					16																	71209570		2198	4300	6498	SO:0001583	missense	54768	exon5			CACTTTGTGGCCA	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.456C>A	16.37:g.71209570G>T	ENSP00000377197:p.His152Gln	97	0		124	8	NM_001198542	0	0	0	1	1	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	2.484	-0.318958	0.05386	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.13657	5.64;3.81;3.81;3.81;3.8;3.8;3.45;2.57	5.07	3.08	0.35506	.	0.272871	0.18561	U	0.137630	T	0.16981	0.0408	L	0.53249	1.67	0.31624	N	0.649952	B;B;B;B;P	0.47302	0.014;0.014;0.014;0.023;0.893	B;B;B;B;P	0.48454	0.02;0.02;0.039;0.018;0.578	T	0.01956	-1.1240	10	0.14252	T	0.57	.	10.8147	0.46569	0.1768:0.0:0.8232:0.0	.	179;169;169;152;152	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	Q	152;152;152;152;152;179;169;169;152	ENSP00000377197:H152Q;ENSP00000398544:H152Q;ENSP00000394826:H152Q;ENSP00000314736:H152Q;ENSP00000444970:H179Q;ENSP00000437341:H169Q;ENSP00000288168:H169Q;ENSP00000377181:H152Q	ENSP00000288168:H169Q	H	-	3	2	HYDIN	69767071	1.000000	0.71417	0.998000	0.56505	0.146000	0.21551	1.737000	0.38197	2.337000	0.79520	0.579000	0.79373	CAC	.		0.443	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
RFWD3	55159	bcgsc.ca	37	16	74670456	74670456	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:74670456G>T	ENST00000361070.4	-	8	1311	c.1214C>A	c.(1213-1215)tCa>tAa	p.S405*	RFWD3_ENST00000571750.1_Nonsense_Mutation_p.S405*	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	405					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						ACTTTGATGTGACGTAAGTTT	0.418																																					p.S405X		.											.	RFWD3-522	0			c.C1214A						.						55.0	58.0	57.0					16																	74670456		2198	4300	6498	SO:0001587	stop_gained	55159	exon8			TGATGTGACGTAA	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1214C>A	16.37:g.74670456G>T	ENSP00000354361:p.Ser405*	49	1		75	16	NM_018124	0	0	7	8	1	A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Nonsense_Mutation	SNP	ENST00000361070.4	37	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210847	0.79240	.	.	ENSG00000168411	ENST00000361070	.	.	.	5.55	-0.151	0.13411	.	0.643608	0.16626	N	0.206260	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	0.182	5.468	0.16654	0.0:0.2552:0.2631:0.4816	.	.	.	.	X	405	.	ENSP00000354361:S405X	S	-	2	0	RFWD3	73227957	0.991000	0.36638	0.000000	0.03702	0.003000	0.03518	1.276000	0.33156	0.000000	0.14550	-0.262000	0.10625	TCA	.		0.418	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124	
PKD1L2	114780	bcgsc.ca	37	16	81249935	81249935	+	RNA	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:81249935G>T	ENST00000525539.1	-	0	377				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.D126D(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGCCGCAGGTGTCAGGGGCAG	0.657																																					p.D126E		.											.	PKD1L2-92	2	Substitution - coding silent(2)	urinary_tract(2)	c.C378A						.						57.0	72.0	67.0					16																	81249935		2066	4208	6274			114780	exon2			GCAGGTGTCAGGG	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81249935G>T		126	3		166	67	NM_001076780	0	0	0	0	0	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37		.	.	.	.	.	.	.	.	.	.	G	10.88	1.475336	0.26511	.	.	ENSG00000166473	ENST00000337114	T	0.13420	2.59	4.56	1.34	0.21922	C-type lectin fold (1);C-type lectin (3);	2.262350	0.01917	N	0.040245	T	0.05364	0.0142	.	.	.	0.09310	N	1	B;B	0.12630	0.001;0.006	B;B	0.12837	0.003;0.008	T	0.32161	-0.9917	9	0.02654	T	1	-0.0899	3.658	0.08228	0.0778:0.2543:0.4037:0.2642	.	126;126	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	E	126	ENSP00000337397:D126E	ENSP00000337397:D126E	D	-	3	2	PKD1L2	79807436	0.000000	0.05858	0.010000	0.14722	0.033000	0.12548	0.544000	0.23253	0.145000	0.18977	0.650000	0.86243	GAC	.		0.657	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2		
FOXC2	2303	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	86601196	86601196	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:86601196C>A	ENST00000320354.4	+	1	340	c.255C>A	c.(253-255)atC>atA	p.I85I	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	85					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CCATGGCCATCCAGAACGCGC	0.617									Late-onset Hereditary Lymphedema																												p.I85I		.											.	FOXC2-226	0			c.C255A						.						98.0	100.0	100.0					16																	86601196		2198	4300	6498	SO:0001819	synonymous_variant	2303	exon1	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	GGCCATCCAGAAC	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.255C>A	16.37:g.86601196C>A		312	1		415	124	NM_005251	0	0	1	1	0	C6KMR9|Q14DA6	Silent	SNP	ENST00000320354.4	37	CCDS10958.1																																																																																			.		0.617	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251	
ZFPM1	161882	hgsc.bcm.edu	37	16	88599696	88599697	+	Frame_Shift_Del	DEL	GA	GA	-	rs368520732|rs67712719	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	GA	GA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:88599696_88599697delGA	ENST00000319555.3	+	10	1652_1653	c.1330_1331delGA	c.(1330-1332)gagfs	p.E444fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGCCAGAGCGGAGCCTCTGGCC	0.743														4881	0.974641	0.9138	0.9914	5008	,	,		7261	0.996		1.0	False		,,,				2504	0.9969				p.444_444del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1330_1331del						.			2219,383		1063,93,145						-6.5	0.0		dbSNP_130	3	4709,133		2339,31,51	no	frameshift	ZFPM1	NM_153813.2		3402,124,196	A1A1,A1R,RR		2.7468,14.7194,6.9318				6928,516				SO:0001589	frameshift_variant	161882	exon10			AGAGCGGAGCCTC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1330_1331delGA	16.37:g.88599696_88599697delGA	ENSP00000326630:p.Glu444fs	1	0		17	11	NM_153813	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.743	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		
ZFPM1	161882	hgsc.bcm.edu	37	16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-	rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	1	0		18	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		
ZFPM1	161882	hgsc.bcm.edu	37	16	88599701	88599701	+	Frame_Shift_Del	DEL	T	T	-	rs67322929|rs149145771	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:88599701delT	ENST00000319555.3	+	10	1657	c.1335delT	c.(1333-1335)cctfs	p.P445fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	445				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GAGCGGAGCCTCTGGCCCAGA	0.746													-|T|-|insertion	4871	0.972644	0.9145	0.9899	5008	,	,		7405	0.995		0.994	False		,,,				2504	0.9939				p.P445fs	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1335delT						.						1.0	1.0	1.0					16																	88599701		392	657	1049	SO:0001589	frameshift_variant	161882	exon10			GGAGCCTCTGGCC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1335delT	16.37:g.88599701delT	ENSP00000326630:p.Pro445fs	0	0		17	12	NM_153813	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		
ZFPM1	161882	hgsc.bcm.edu	37	16	88599703	88599705	+	In_Frame_Del	DEL	TGG	TGG	-	rs149145771|rs67873604	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	TGG	TGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:88599703_88599705delTGG	ENST00000319555.3	+	10	1659_1661	c.1337_1339delTGG	c.(1336-1341)ctggcc>ccc	p.446_447LA>P	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	446				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCGGAGCCTCTGGCCCAGAATGG	0.739														4871	0.972644	0.9145	0.9899	5008	,	,		7191	0.995		0.994	False		,,,				2504	0.9939				p.446_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1337_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			AGCCTCTGGCCCA	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1337_1339delTGG	16.37:g.88599703_88599705delTGG	ENSP00000326630:p.Leu446_Ala447delinsPro	1	0		15	12	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.739	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		
GLTPD2	388323	hgsc.bcm.edu	37	17	4693342	4693342	+	Missense_Mutation	SNP	C	C	A	rs35910358	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:4693342C>A	ENST00000331264.7	+	4	680	c.627C>A	c.(625-627)gaC>gaA	p.D209E		NM_001014985.2	NP_001014985	A6NH11	GLTD2_HUMAN	glycolipid transfer protein domain containing 2	209				D -> E (in Ref. 2; AAI50537). {ECO:0000305}.		cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						GAGGCCCGGACGCGGGCGTGC	0.761													C|||	4904	0.979233	0.9228	1.0	5008	,	,		11019	1.0		0.998	False		,,,				2504	1.0				p.D209E		.											.	GLTPD2-68	0			c.C627A						.	C	GLU/ASP	2706,78		1314,78,0	2.0	2.0	2.0		627	0.2	0.1	17	dbSNP_126	2	6028,0		3014,0,0	no	missense	GLTPD2	NM_001014985.2	45	4328,78,0	AA,AC,CC		0.0,2.8017,0.8852	benign	209/292	4693342	8734,78	1392	3014	4406	SO:0001583	missense	388323	exon4			CCCGGACGCGGGC	BC029290	CCDS32534.1	17p13.2	2007-12-19				ENSG00000182327			33756	protein-coding gene	gene with protein product							Standard	NM_001014985		Approved		uc002fza.2	A6NH11		ENST00000331264.7:c.627C>A	17.37:g.4693342C>A	ENSP00000328070:p.Asp209Glu	0	0		8	8	NM_001014985	0	0	0	0	0	A7E2T2	Missense_Mutation	SNP	ENST00000331264.7	37	CCDS32534.1	2151	0.9848901098901099	466	0.9471544715447154	362	1.0	572	1.0	751	0.9907651715039578	C	9.155	1.017148	0.19355	0.971983	1.0	ENSG00000182327	ENST00000331264	.	.	.	4.58	0.162	0.14981	Glycolipid transfer protein domain (3);	.	.	.	.	T	0.00012	0.0000	L	0.41027	1.25	0.80722	P	0.0	B	0.22080	0.064	B	0.31614	0.133	T	0.34650	-0.9820	7	0.12103	T	0.63	-20.1635	5.889	0.18897	0.0:0.5269:0.298:0.1751	rs35910358	209	A6NH11	GLTD2_HUMAN	E	209	.	ENSP00000328070:D209E	D	+	3	2	GLTPD2	4640082	0.004000	0.15560	0.082000	0.20525	0.081000	0.17604	0.011000	0.13264	-0.068000	0.12953	0.555000	0.69702	GAC	C|0.015;A|0.985		0.761	GLTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439781.1	NM_001014985	
TP53	7157	hgsc.bcm.edu	37	17	7579521	7579521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:7579521C>A	ENST00000269305.4	-	4	355	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E56*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E56*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Nonsense_Mutation_p.E56*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E56*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E56*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	56	Interaction with HRMT1L2.		E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.E56*(7)|p.E56K(3)|p.E56fs*73(3)|p.E51fs*59(1)|p.Q52fs*67(1)|p.D48fs*55(1)|p.E56fs*67(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTGGGTCTTCAGTGAACCAT	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.E56X	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	.	TP53-70225	27	Whole gene deletion(8)|Substitution - Nonsense(7)|Deletion - Frameshift(6)|Insertion - Frameshift(3)|Substitution - Missense(3)	upper_aerodigestive_tract(4)|bone(4)|liver(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|breast(2)|pancreas(2)|large_intestine(1)|stomach(1)|endometrium(1)|lung(1)|skin(1)|prostate(1)	c.G166T						.						158.0	159.0	159.0					17																	7579521		2203	4300	6503	SO:0001587	stop_gained	7157	exon4	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	GGTCTTCAGTGAA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.166G>T	17.37:g.7579521C>A	ENSP00000269305:p.Glu56*	34	1		23	9	NM_000546	0	0	10	10	0	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594134	0.46214	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.33	0.2	0.15181	.	1.101100	0.06919	N	0.809088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.0048	3.4906	0.07636	0.0:0.5368:0.2153:0.2479	.	.	.	.	X	56	.	ENSP00000269305:E56X	E	-	1	0	TP53	7520246	0.064000	0.20934	0.001000	0.08648	0.010000	0.07245	0.714000	0.25808	0.099000	0.17552	-0.264000	0.10439	GAA	.		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	7579722	7579722	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:7579722C>A	ENST00000269305.4	-	3	264		c.e3-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L26fs*18(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCAGGAAGTCTGAAAGACAA	0.622		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											.	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	.	TP53-70225	10	Whole gene deletion(8)|Complex - frameshift(1)|Deletion - Frameshift(1)	bone(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	c.75-1G>T						.						42.0	42.0	42.0					17																	7579722		2203	4300	6503	SO:0001630	splice_region_variant	7157	exon4	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	GGAAGTCTGAAAG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.75-1G>T	17.37:g.7579722C>A		42	0		57	21	NM_000546	0	0	0	4	4	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243908	0.79912	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.06	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0486	0.53493	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520447	0.984000	0.35163	0.884000	0.34674	0.984000	0.73092	3.386000	0.52492	2.573000	0.86826	0.561000	0.74099	.	.		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron
ARHGAP44	9912	hgsc.bcm.edu;broad.mit.edu	37	17	12853032	12853032	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:12853032G>T	ENST00000379672.5	+	12	1340	c.1040G>T	c.(1039-1041)tGg>tTg	p.W347L	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.W347L|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.W347L	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	347	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TATGATGAGTGGATCCAGGCT	0.408																																					p.W347L		.											.	ARHGAP44-90	0			c.G1040T						.						112.0	103.0	106.0					17																	12853032		1860	4116	5976	SO:0001583	missense	9912	exon12			ATGAGTGGATCCA		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.1040G>T	17.37:g.12853032G>T	ENSP00000368994:p.Trp347Leu	123	0		94	7	NM_014859	0	0	0	0	0	A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997615	0.54147	.	.	ENSG00000006740	ENST00000379672;ENST00000544416;ENST00000340825;ENST00000538915	T;T	0.14266	2.52;2.52	6.15	6.15	0.99193	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.061467	0.64402	D	0.000001	T	0.33469	0.0864	L	0.47716	1.5	0.80722	D	1	P;D;P	0.76494	0.698;0.999;0.744	B;D;P	0.78314	0.405;0.991;0.582	T	0.00288	-1.1845	10	0.87932	D	0	.	18.3325	0.90274	0.0:0.0:1.0:0.0	.	347;9;347	A6NCP5;F5H6L3;Q17R89	.;.;RHG44_HUMAN	L	347;9;347;70	ENSP00000368994:W347L;ENSP00000342566:W347L	ENSP00000342566:W347L	W	+	2	0	ARHGAP44	12793757	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.932000	0.99384	0.643000	0.83706	TGG	.		0.408	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859	
MAP2K3	5606	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	21215491	21215491	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:21215491G>T	ENST00000342679.4	+	10	1061	c.812G>T	c.(811-813)tGg>tTg	p.W271L	MAP2K3_ENST00000316920.6_Missense_Mutation_p.W242L|MAP2K3_ENST00000361818.5_Missense_Mutation_p.W242L	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TACGAGTCCTGGGGGACCCCG	0.652																																					p.W271L		.											.	MAP2K3-790	0			c.G812T						.						58.0	57.0	57.0					17																	21215491		2203	4300	6503	SO:0001583	missense	5606	exon10			AGTCCTGGGGGAC	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.812G>T	17.37:g.21215491G>T	ENSP00000345083:p.Trp271Leu	102	0		81	8	NM_145109	0	0	48	50	2	B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	36	5.603894	0.96626	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.63913	-0.07;-0.07	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.63319	0.2501	N	0.03268	-0.37	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74699	-0.3577	10	0.87932	D	0	-25.1256	20.1306	0.97998	0.0:0.0:1.0:0.0	.	271	P46734	MP2K3_HUMAN	L	271;242;242;275	ENSP00000345083:W271L;ENSP00000355081:W242L	ENSP00000319139:W275L	W	+	2	0	MAP2K3	21156084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.690000	0.98676	2.751000	0.94390	0.655000	0.94253	TGG	.		0.652	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109	
VTN	7448	hgsc.bcm.edu	37	17	26699121	26699121	+	5'Flank	SNP	G	G	C	rs7212814		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:26699121G>C	ENST00000226218.4	-	0	0				SARM1_ENST00000457710.3_5'UTR|VTN_ENST00000536498.1_5'Flank|SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin						cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GGCCCACGGCGGGGCGCCGAG	0.761													C|||	5008	1.0	1.0	1.0	5008	,	,		9002	1.0		1.0	False		,,,				2504	1.0				p.R23P		.											.	.	0			c.G68C						.						2.0	2.0	2.0					17																	26699121		1378	3066	4444	SO:0001631	upstream_gene_variant	23098	exon1			CACGGCGGGGCGC	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500		17.37:g.26699121G>C	Exception_encountered	0	0		7	7	NM_015077	0	0	0	2	2	B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	CCDS11229.1	2181	0.9986263736263736	490	0.9959349593495935	362	1.0	571	0.9982517482517482	758	1.0	C	4.627	0.116613	0.08881	.	.	ENSG00000004139	ENST00000457710	.	.	.	4.93	3.94	0.45596	.	1.216040	0.06217	N	0.686070	T	0.00012	0.0000	.	.	.	0.45837	P	0.0012929999999999886	.	.	.	.	.	.	T	0.38757	-0.9646	5	0.02654	T	1	0.2642	5.2918	0.15731	0.1514:0.6261:0.1455:0.077	rs7212814	.	.	.	P	23	.	ENSP00000406738:R23P	R	+	2	0	SARM1	23723248	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.263000	0.33004	0.497000	0.27926	-1.514000	0.00941	CGG	G|0.001;C|0.999		0.761	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638	
BLMH	642	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	28601155	28601155	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:28601155G>A	ENST00000261714.6	-	7	880	c.706C>T	c.(706-708)Cga>Tga	p.R236*	BLMH_ENST00000394819.3_Nonsense_Mutation_p.R149*|BLMH_ENST00000582669.1_5'UTR	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	236					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	TCTTTGTCTCGATATTCCCAG	0.448																																					p.R236X	Pancreas(127;628 1772 12912 33293 36203)	.											.	BLMH-91	0			c.C706T						.						85.0	82.0	83.0					17																	28601155		2203	4300	6503	SO:0001587	stop_gained	642	exon7			TGTCTCGATATTC	X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.706C>T	17.37:g.28601155G>A	ENSP00000261714:p.Arg236*	75	0		55	12	NM_000386	0	0	9	9	0	B2R796|Q53F86|Q9UER9	Nonsense_Mutation	SNP	ENST00000261714.6	37	CCDS32604.1	.	.	.	.	.	.	.	.	.	.	G	35	5.553903	0.96501	.	.	ENSG00000108578	ENST00000261714;ENST00000394819	.	.	.	5.91	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7216	15.0025	0.71486	0.0:0.0:0.8572:0.1428	.	.	.	.	X	236;149	.	ENSP00000261714:R236X	R	-	1	2	BLMH	25625281	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.963000	0.29293	2.802000	0.96397	0.655000	0.94253	CGA	.		0.448	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386	
RAB11FIP4	84440	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	29848225	29848225	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:29848225C>A	ENST00000325874.8	+	5	834	c.605C>A	c.(604-606)tCt>tAt	p.S202Y	RN7SL45P_ENST00000578050.1_RNA|RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.S100Y	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	202	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TCAGACCTTTCTACACACTCC	0.602																																					p.S202Y		.											.	RAB11FIP4-91	0			c.C605A						.						180.0	160.0	167.0					17																	29848225		2203	4300	6503	SO:0001583	missense	84440	exon5			ACCTTTCTACACA	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.605C>A	17.37:g.29848225C>A	ENSP00000312837:p.Ser202Tyr	141	0		112	12	NM_032932	0	0	1	1	0	Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	C	8.670	0.902696	0.17760	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	T	0.51071	0.72	5.74	5.74	0.90152	.	0.110845	0.64402	D	0.000005	T	0.55146	0.1902	L	0.54323	1.7	0.58432	D	0.999999	P;D	0.56521	0.928;0.976	P;P	0.51229	0.663;0.656	T	0.51309	-0.8722	9	.	.	.	-26.7677	17.4128	0.87491	0.0:1.0:0.0:0.0	.	100;202	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	Y	202	ENSP00000312837:S202Y	.	S	+	2	0	RAB11FIP4	26872345	1.000000	0.71417	0.998000	0.56505	0.071000	0.16799	4.854000	0.62918	2.707000	0.92482	0.655000	0.94253	TCT	.		0.602	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932	
RAB11FIP4	84440	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	29848320	29848320	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:29848320C>A	ENST00000325874.8	+	5	929	c.700C>A	c.(700-702)Ccc>Acc	p.P234T	RN7SL45P_ENST00000578050.1_RNA|RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.P132T	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	234	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CAGCCCTTGCCCCGATGATGA	0.572																																					p.P234T		.											.	RAB11FIP4-91	0			c.C700A						.						140.0	106.0	117.0					17																	29848320		2203	4300	6503	SO:0001583	missense	84440	exon5			CCTTGCCCCGATG	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.700C>A	17.37:g.29848320C>A	ENSP00000312837:p.Pro234Thr	205	0		177	79	NM_032932	0	0	0	1	1	Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977463	0.92982	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	T	0.50277	0.75	5.89	5.89	0.94794	.	0.050805	0.85682	D	0.000000	T	0.67961	0.2949	M	0.67953	2.075	0.80722	D	1	P;D	0.89917	0.941;1.0	D;D	0.87578	0.917;0.998	T	0.65327	-0.6195	9	.	.	.	-27.6976	17.7515	0.88435	0.0:1.0:0.0:0.0	.	132;234	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	T	234	ENSP00000312837:P234T	.	P	+	1	0	RAB11FIP4	26872440	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	5.248000	0.65421	2.783000	0.95769	0.655000	0.94253	CCC	.		0.572	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932	
SLFN14	342618	broad.mit.edu;bcgsc.ca	37	17	33880003	33880003	+	Silent	SNP	C	C	G	rs28498569	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:33880003C>G	ENST00000415846.3	-	3	1685	c.1650G>C	c.(1648-1650)gtG>gtC	p.V550V	RP11-1094M14.12_ENST00000588445.1_RNA	NM_001129820.1	NP_001123292.1	P0C7P3	SLN14_HUMAN	schlafen family member 14	550							ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(3)	9						ACAGGGAGACCACCACCAGAG	0.527													C|||	1164	0.232428	0.3782	0.2046	5008	,	,		15105	0.2976		0.0964	False		,,,				2504	0.1278				p.V550V		.											.	SLFN14-1	0			c.G1650C						.	C		420,964		61,298,333	142.0	136.0	138.0		1650	-5.5	0.0	17	dbSNP_125	138	281,2901		11,259,1321	no	coding-synonymous	SLFN14	NM_001129820.1		72,557,1654	GG,GC,CC		8.8309,30.3468,15.3526		550/913	33880003	701,3865	692	1591	2283	SO:0001819	synonymous_variant	342618	exon3			GGAGACCACCACC		CCDS45650.1	17q12	2009-09-22				ENSG00000236320			32689	protein-coding gene	gene with protein product		614958				9846487	Standard	NM_001129820		Approved		uc010ctu.1	P0C7P3		ENST00000415846.3:c.1650G>C	17.37:g.33880003C>G		75	0		60	7	NM_001129820	0	0	0	0	0	B2RTW9	Silent	SNP	ENST00000415846.3	37	CCDS45650.1																																																																																			C|0.765;G|0.235		0.527	SLFN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448928.1	NM_001129820	
GAS2L2	246176	broad.mit.edu;ucsc.edu	37	17	34072812	34072812	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:34072812G>T	ENST00000254466.6	-	6	1731	c.1704C>A	c.(1702-1704)gtC>gtA	p.V568V	GAS2L2_ENST00000587565.1_Silent_p.V552V	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	568					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTCTGCCATGACCTGGATGT	0.632																																					p.V568V		.											.	GAS2L2-227	0			c.C1704A						.						53.0	52.0	52.0					17																	34072812		2203	4300	6503	SO:0001819	synonymous_variant	246176	exon6			TGCCATGACCTGG	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1704C>A	17.37:g.34072812G>T		76	1		73	7	NM_139285	0	0	0	0	0	Q8NHY4	Silent	SNP	ENST00000254466.6	37	CCDS11298.1																																																																																			.		0.632	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285	
ACACA	31	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	35468526	35468526	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:35468526C>A	ENST00000394406.2	-	52	6584	c.6394G>T	c.(6394-6396)Gat>Tat	p.D2132Y	ACACA_ENST00000353139.5_Missense_Mutation_p.D2169Y|ACACA_ENST00000335166.5_Missense_Mutation_p.D2054Y|ACACA_ENST00000361253.5_Missense_Mutation_p.D258Y|ACACA_ENST00000360679.3_Missense_Mutation_p.D2074Y	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2132	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCACCAGATCCTTTCTGCGG	0.458																																					p.D2169Y	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	.											.	ACACA-154	0			c.G6505T						.						169.0	146.0	154.0					17																	35468526		2203	4300	6503	SO:0001583	missense	31	exon52			CCAGATCCTTTCT	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6394G>T	17.37:g.35468526C>A	ENSP00000377928:p.Asp2132Tyr	92	0		65	8	NM_198834	0	0	15	15	0	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201818	0.79015	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.67	5.67	0.87782	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	T	0.65913	0.2737	M	0.90650	3.135	0.80722	D	1	D;D;D;D;D	0.89917	0.994;0.999;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.958;0.978;0.998;0.988;0.98	T	0.72640	-0.4232	10	0.87932	D	0	-19.1024	19.7848	0.96432	0.0:1.0:0.0:0.0	.	170;831;2169;2132;2074	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	Y	2169;2074;2132;2156;2054;831;258	ENSP00000344789:D2169Y;ENSP00000353898:D2074Y;ENSP00000377928:D2132Y;ENSP00000335323:D2054Y;ENSP00000354565:D258Y	ENSP00000335323:D2054Y	D	-	1	0	ACACA	32542639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.673000	0.90976	0.655000	0.94253	GAT	.		0.458	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
KRT39	390792	bcgsc.ca	37	17	39116728	39116728	+	Missense_Mutation	SNP	G	G	A	rs17843021	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:39116728G>A	ENST00000355612.2	-	6	1057	c.1022C>T	c.(1021-1023)aCg>aTg	p.T341M	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	341	Coil 2.|Rod.		T -> M (in dbSNP:rs17843021).			intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTCTGTCTCCGTTAGGATGCA	0.493													G|||	585	0.116813	0.1452	0.0548	5008	,	,		18259	0.1399		0.1322	False		,,,				2504	0.0828				p.T341M		.											.	.	0			c.C1022T						.	G	MET/THR	630,3776	274.0+/-271.7	53,524,1626	137.0	135.0	135.0		1022	-1.1	0.0	17	dbSNP_123	135	1136,7456	235.1+/-267.8	71,994,3231	yes	missense	KRT39	NM_213656.3	81	124,1518,4857	AA,AG,GG		13.2216,14.2987,13.5867	possibly-damaging	341/492	39116728	1766,11232	2203	4296	6499	SO:0001583	missense	390792	exon6			GTCTCCGTTAGGA	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.1022C>T	17.37:g.39116728G>A	ENSP00000347823:p.Thr341Met	92	0		83	5	NM_213656	0	0	0	0	0	B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	CCDS11382.1	273	0.125	69	0.1402439024390244	29	0.08011049723756906	75	0.13111888111888112	100	0.13192612137203166	G	6.273	0.418486	0.11870	0.142987	0.132216	ENSG00000196859	ENST00000355612	D	0.89050	-2.46	5.81	-1.12	0.09808	Filament (1);	1.437790	0.04585	N	0.395707	T	0.03651	0.0104	M	0.64170	1.965	0.80722	P	0.0	P	0.41947	0.766	B	0.37239	0.244	T	0.51655	-0.8678	9	0.62326	D	0.03	.	4.6774	0.12719	0.2521:0.0:0.3101:0.4378	rs17843021;rs17843021	341	Q6A163	K1C39_HUMAN	M	341	ENSP00000347823:T341M	ENSP00000347823:T341M	T	-	2	0	KRT39	36370254	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.117000	0.10708	-0.383000	0.07858	-0.218000	0.12543	ACG	G|0.868;A|0.132		0.493	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656	
KRT40	125115	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	39140279	39140279	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:39140279C>A	ENST00000398486.2	-	3	407	c.247G>T	c.(247-249)Ggg>Tgg	p.G83W	KRT40_ENST00000377755.4_Missense_Mutation_p.G83W	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	83	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GTGAACACCCCATCCTCACAC	0.557																																					p.G83W		.											.	.	0			c.G247T						.						166.0	167.0	167.0					17																	39140279		2199	4286	6485	SO:0001583	missense	125115	exon3			ACACCCCATCCTC	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.247G>T	17.37:g.39140279C>A	ENSP00000381500:p.Gly83Trp	155	0		125	54	NM_182497	0	0	0	0	0	Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416213	0.42918	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.84070	-1.8;-1.8	5.21	3.08	0.35506	.	0.000000	0.34268	N	0.004110	D	0.83041	0.5168	M	0.67953	2.075	0.33309	D	0.565851	P	0.48640	0.913	P	0.49829	0.623	D	0.86691	0.1923	10	0.72032	D	0.01	.	7.3299	0.26575	0.1668:0.7476:0.0:0.0856	.	83	Q6A162	K1C40_HUMAN	W	83	ENSP00000366984:G83W;ENSP00000381500:G83W	ENSP00000366984:G83W	G	-	1	0	KRT40	36393805	0.397000	0.25270	0.927000	0.36925	0.957000	0.61999	1.905000	0.39878	1.334000	0.45468	0.591000	0.81541	GGG	.		0.557	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497	
KRTAP1-3	81850	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	39190809	39190809	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:39190809C>A	ENST00000344363.5	-	1	298	c.265G>T	c.(265-267)Ggt>Tgt	p.G89C		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	99						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CCAATGCCACCACCAATGCCA	0.652																																					p.G89C		.											.	.	0			c.G265T						.						24.0	28.0	26.0					17																	39190809		2000	4167	6167	SO:0001583	missense	81850	exon1			TGCCACCACCAAT	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.265G>T	17.37:g.39190809C>A	ENSP00000344420:p.Gly89Cys	121	1		91	27	NM_030966	0	0	0	0	0	Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	ENST00000344363.5	37	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	C	9.670	1.146343	0.21288	.	.	ENSG00000221880	ENST00000344363	T	0.36157	1.27	3.15	-6.31	0.02001	.	.	.	.	.	T	0.18759	0.0450	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.23976	-1.0173	8	0.31617	T	0.26	.	6.6917	0.23177	0.6555:0.2358:0.0:0.1087	.	99	Q8IUG1	KRA13_HUMAN	C	89	ENSP00000344420:G89C	ENSP00000344420:G89C	G	-	1	0	KRTAP1-3	36444335	0.670000	0.27512	0.000000	0.03702	0.236000	0.25371	1.202000	0.32271	-1.097000	0.03042	0.467000	0.42956	GGT	.		0.652	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1		
KRTAP4-3	85290	bcgsc.ca	37	17	39324355	39324355	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:39324355A>T	ENST00000391356.2	-	1	69	c.70T>A	c.(70-72)Tgc>Agc	p.C24S		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	24					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGGCGGCAGCAGCTCTCCTGG	0.637																																					p.C24S		.											.	KRTAP4-3-22	0			c.T70A						.						27.0	31.0	30.0					17																	39324355		2196	4298	6494	SO:0001583	missense	85290	exon1			GGCAGCAGCTCTC	AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"""Keratin associated proteins"""	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.70T>A	17.37:g.39324355A>T	ENSP00000375151:p.Cys24Ser	168	0		164	22	NM_033187	0	0	0	0	0		Missense_Mutation	SNP	ENST00000391356.2	37	CCDS42331.1	.	.	.	.	.	.	.	.	.	.	.	12.63	1.996334	0.35226	.	.	ENSG00000196156	ENST00000391356	T	0.04406	3.63	5.15	5.15	0.70609	.	.	.	.	.	T	0.22627	0.0546	M	0.82323	2.585	0.43703	D	0.996168	D	0.89917	1.0	D	0.83275	0.996	T	0.00724	-1.1593	9	0.49607	T	0.09	.	13.2133	0.59839	1.0:0.0:0.0:0.0	.	24	Q9BYR4	KRA43_HUMAN	S	24	ENSP00000375151:C24S	ENSP00000375151:C24S	C	-	1	0	KRTAP4-3	36577881	0.767000	0.28508	0.753000	0.31225	0.100000	0.18952	1.312000	0.33574	2.039000	0.60335	0.533000	0.62120	TGC	.		0.637	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1		
KRT33B	3884	broad.mit.edu	37	17	39520197	39520197	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:39520197G>T	ENST00000251646.3	-	7	1155	c.1106C>A	c.(1105-1107)tCc>tAc	p.S369Y		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	369	Tail.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GCAGGGGTTGGAGGGCAGCCT	0.527																																					p.S369Y		.											.	KRT33B-90	0			c.C1106A						.						117.0	120.0	119.0					17																	39520197		2190	4300	6490	SO:0001583	missense	3884	exon7			GGGTTGGAGGGCA	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.1106C>A	17.37:g.39520197G>T	ENSP00000251646:p.Ser369Tyr	137	0		103	3	NM_002279	0	0	0	0	0	O76010	Missense_Mutation	SNP	ENST00000251646.3	37	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	g	8.490	0.861790	0.17178	.	.	ENSG00000131738	ENST00000251646	D	0.82984	-1.67	5.13	3.12	0.35913	.	0.521615	0.19242	N	0.119153	T	0.77519	0.4142	L	0.46157	1.445	0.23903	N	0.996518	B	0.02656	0.0	B	0.04013	0.001	T	0.69533	-0.5120	10	0.66056	D	0.02	.	12.0327	0.53406	0.0:0.646:0.354:0.0	.	369	Q14525	KT33B_HUMAN	Y	369	ENSP00000251646:S369Y	ENSP00000251646:S369Y	S	-	2	0	KRT33B	36773723	0.998000	0.40836	1.000000	0.80357	0.204000	0.24138	0.727000	0.25999	0.841000	0.35020	-0.171000	0.13296	TCC	.		0.527	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279	
RND2	8153	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	41180515	41180515	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:41180515C>A	ENST00000587250.2	+	5	609	c.502C>A	c.(502-504)Cgc>Agc	p.R168S	RND2_ENST00000544533.1_Missense_Mutation_p.R169S|CTD-3199J23.4_ENST00000225973.5_lincRNA			P52198	RND2_HUMAN	Rho family GTPase 2	168					GTP catabolic process (GO:0006184)|positive regulation of collateral sprouting (GO:0048672)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GTCCTCTGAGCGCAGCGTCAG	0.607																																					p.R168S		.											.	RND2-227	0			c.C502A						.						74.0	69.0	71.0					17																	41180515		2203	4300	6503	SO:0001583	missense	8153	exon5			TCTGAGCGCAGCG	X95456	CCDS11452.1	17q21.31	2012-10-02	2005-01-24	2005-01-24	ENSG00000108830	ENSG00000108830			18315	protein-coding gene	gene with protein product		601555	"""ras homolog gene family, member N"""	ARHN			Standard	XM_005257706		Approved	Rho7, RhoN	uc002icn.3	P52198	OTTHUMG00000180817	ENST00000587250.2:c.502C>A	17.37:g.41180515C>A	ENSP00000466680:p.Arg168Ser	152	0		107	9	NM_005440	0	0	5	5	0	A8K2D4|O00690|O00734|Q5U0P6|Q99535	Missense_Mutation	SNP	ENST00000587250.2	37	CCDS11452.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801056	0.50315	.	.	ENSG00000108830	ENST00000544533;ENST00000225973	T	0.69040	-0.37	5.55	4.57	0.56435	.	0.157696	0.64402	D	0.000019	T	0.53642	0.1809	N	0.25485	0.75	0.31607	N	0.652036	B	0.23128	0.08	B	0.28991	0.097	T	0.61118	-0.7127	10	0.72032	D	0.01	.	9.0437	0.36333	0.3979:0.4701:0.132:0.0	.	168	P52198	RND2_HUMAN	S	169;168	ENSP00000439328:R169S	ENSP00000225973:R168S	R	+	1	0	RND2	38434041	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.563000	0.60823	1.559000	0.49555	0.655000	0.94253	CGC	.		0.607	RND2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453111.2	NM_005440	
FMNL1	752	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	43322367	43322367	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:43322367G>T	ENST00000331495.3	+	21	2956	c.2620G>T	c.(2620-2622)Gat>Tat	p.D874Y	MAP3K14-AS1_ENST00000588698.1_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.D874Y|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|CTD-2020K17.4_ENST00000591361.1_RNA|CTD-2020K17.4_ENST00000420431.2_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|CTD-2020K17.4_ENST00000589518.1_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.D452Y	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	874	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GAAGTCGACTGATCGCAAGCA	0.602																																					p.D874Y	GBM(164;1247 1997 8702 11086 51972)	.											.	FMNL1-91	0			c.G2620T						.						95.0	88.0	91.0					17																	43322367		2203	4300	6503	SO:0001583	missense	752	exon21			TCGACTGATCGCA	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2620G>T	17.37:g.43322367G>T	ENSP00000329219:p.Asp874Tyr	105	2		97	41	NM_005892	0	0	1	2	1	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637432	0.87760	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.69685	-0.42;-0.42	4.52	4.52	0.55395	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	D	0.85754	0.5770	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89430	0.3716	10	0.87932	D	0	.	15.1166	0.72407	0.0:0.0:1.0:0.0	.	874	O95466	FMNL_HUMAN	Y	874;874;529	ENSP00000327442:D874Y;ENSP00000329219:D874Y	ENSP00000327442:D874Y	D	+	1	0	FMNL1	40678150	1.000000	0.71417	0.993000	0.49108	0.949000	0.60115	9.585000	0.98223	2.511000	0.84671	0.455000	0.32223	GAT	.		0.602	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892	
NPEPPS	9520	broad.mit.edu;bcgsc.ca	37	17	45668234	45668234	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:45668234G>T	ENST00000322157.4	+	10	1484	c.1247G>T	c.(1246-1248)aGc>aTc	p.S416I	NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.S336I|NPEPPS_ENST00000530173.1_Missense_Mutation_p.S412I	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	416					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TTAGATAACAGCCATCCTATT	0.408																																					p.S416I		.											.	NPEPPS-90	0			c.G1247T						.						147.0	101.0	115.0					17																	45668234		1891	4099	5990	SO:0001583	missense	9520	exon10			ATAACAGCCATCC	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1247G>T	17.37:g.45668234G>T	ENSP00000320324:p.Ser416Ile	287	0		217	17	NM_006310	0	0	39	45	6	B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961238	0.92791	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360	T;T;T;T;T	0.05855	3.38;3.38;3.38;3.38;3.38	5.58	5.58	0.84498	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.32852	0.0843	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.991;0.991	T	0.13124	-1.0521	10	0.87932	D	0	.	19.5562	0.95349	0.0:0.0:1.0:0.0	.	416;412;416	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	I	412;416;403;336;99;113	ENSP00000433287:S412I;ENSP00000320324:S416I;ENSP00000442461:S336I;ENSP00000435639:S99I;ENSP00000435966:S113I	ENSP00000320324:S416I	S	+	2	0	NPEPPS	43023233	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.714000	0.98744	2.622000	0.88805	0.591000	0.81541	AGC	.		0.408	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310	
SNF8	11267	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	47007866	47007866	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:47007866C>A	ENST00000502492.1	-	8	1130	c.748G>T	c.(748-750)Gct>Tct	p.A250S	SNF8_ENST00000290330.3_Missense_Mutation_p.A249S|SNF8_ENST00000514089.1_5'UTR|AC091133.1_ENST00000435491.1_RNA			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	250				A -> P (in Ref. 1; AAD46560). {ECO:0000305}.	endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|lung(1)	3						GCCTCCTCAGCTGTAATCTCC	0.602																																					p.A250S		.											.	SNF8-90	0			c.G748T						.						27.0	26.0	26.0					17																	47007866		2203	4300	6503	SO:0001583	missense	11267	exon8			CCTCAGCTGTAAT	AF156102	CCDS11541.1	17q21.32	2013-06-05	2013-06-05		ENSG00000159210	ENSG00000159210			17028	protein-coding gene	gene with protein product		610904	"""SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)"""			10419521, 15329733	Standard	NM_007241		Approved	EAP30, VPS22, Dot3	uc002ioj.3	Q96H20	OTTHUMG00000160569	ENST00000502492.1:c.748G>T	17.37:g.47007866C>A	ENSP00000421380:p.Ala250Ser	21	0		20	6	NM_007241	0	0	38	42	4	Q8IXY3|Q9UN50	Missense_Mutation	SNP	ENST00000502492.1	37	CCDS11541.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454539	0.43634	.	.	ENSG00000159210	ENST00000502492;ENST00000290330	.	.	.	5.87	4.91	0.64330	.	0.215793	0.49916	D	0.000129	T	0.38026	0.1025	N	0.14661	0.345	0.44635	D	0.997618	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.003	T	0.30031	-0.9992	9	0.87932	D	0	-7.6294	6.9939	0.24772	0.0:0.6615:0.1858:0.1527	.	249;250	Q96H20-2;Q96H20	.;SNF8_HUMAN	S	250;249	.	ENSP00000290330:A249S	A	-	1	0	SNF8	44362865	1.000000	0.71417	0.915000	0.36163	0.976000	0.68499	4.523000	0.60545	1.630000	0.50440	0.655000	0.94253	GCT	.		0.602	SNF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361172.1	NM_007241	
PRKAR1A	5573	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	66526420	66526420	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:66526420G>T	ENST00000589228.1	+	11	1104	c.976G>T	c.(976-978)Gaa>Taa	p.E326*	PRKAR1A_ENST00000586397.1_Nonsense_Mutation_p.E326*|PRKAR1A_ENST00000588188.2_Intron|PRKAR1A_ENST00000392711.1_Nonsense_Mutation_p.E326*|PRKAR1A_ENST00000536854.2_Nonsense_Mutation_p.E326*|PRKAR1A_ENST00000358598.2_Nonsense_Mutation_p.E326*	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	326					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					TTCTCCAGGTGAAATTGCACT	0.438			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												p.E326X	Ovarian(167;637 1670 33025 39608 46699 51856)	.	yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""		"""E, M"""	.	PRKAR1A-1141	0			c.G976T						.						190.0	170.0	177.0					17																	66526420		2203	4300	6503	SO:0001587	stop_gained	5573	exon11	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	CCAGGTGAAATTG		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.976G>T	17.37:g.66526420G>T	ENSP00000464977:p.Glu326*	139	1		112	29	NM_212472	0	0	0	0	0	K7ER48|Q567S7	Nonsense_Mutation	SNP	ENST00000589228.1	37	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	G	37	6.219589	0.97385	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.8524	20.2704	0.98474	0.0:0.0:1.0:0.0	.	.	.	.	X	326	.	ENSP00000351410:E326X	E	+	1	0	PRKAR1A	64038015	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	9.841000	0.99482	2.793000	0.96121	0.591000	0.81541	GAA	.		0.438	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1		
MAP2K6	5608	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	67515498	67515498	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:67515498G>T	ENST00000590474.1	+	5	578	c.291G>T	c.(289-291)ctG>ctT	p.L97L	MAP2K6_ENST00000589647.1_Silent_p.L41L	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	97	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					AACGGCTACTGATGGATTTGG	0.473																																					p.L97L		.											.	MAP2K6-1404	0			c.G291T						.						158.0	147.0	151.0					17																	67515498		2203	4300	6503	SO:0001819	synonymous_variant	5608	exon5			GCTACTGATGGAT	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.291G>T	17.37:g.67515498G>T		252	3		189	89	NM_002758	0	0	0	0	0		Silent	SNP	ENST00000590474.1	37	CCDS11686.1																																																																																			.		0.473	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758	
KCNJ2	3759	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	68171641	68171641	+	Missense_Mutation	SNP	G	G	T	rs199473380		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:68171641G>T	ENST00000243457.3	+	2	844	c.461G>T	c.(460-462)tGc>tTc	p.C154F	KCNJ2_ENST00000535240.1_Missense_Mutation_p.C154F	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	154					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ACGGATGAATGCCCAATTGCT	0.507																																					p.C154F		.											.	KCNJ2-90	0			c.G461T	GRCh37	CM055968	KCNJ2	M		.						189.0	176.0	180.0					17																	68171641		2203	4300	6503	SO:0001583	missense	3759	exon2			ATGAATGCCCAAT	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.461G>T	17.37:g.68171641G>T	ENSP00000243457:p.Cys154Phe	105	0		87	36	NM_000891	0	0	0	0	0	O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329073	0.60743	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.97378	-4.36;-4.36	5.82	5.82	0.92795	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.99165	0.9711	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98925	1.0785	9	.	.	.	.	20.1041	0.97884	0.0:0.0:1.0:0.0	.	154	P63252	IRK2_HUMAN	F	154	ENSP00000441848:C154F;ENSP00000243457:C154F	.	C	+	2	0	KCNJ2	65683236	1.000000	0.71417	0.997000	0.53966	0.774000	0.43823	9.869000	0.99810	2.755000	0.94549	0.555000	0.69702	TGC	.		0.507	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891	
SSTR2	6752	ucsc.edu;bcgsc.ca	37	17	71166384	71166384	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:71166384C>A	ENST00000357585.2	+	2	1295	c.926C>A	c.(925-927)cCt>cAt	p.P309H	SSTR2_ENST00000315332.2_Missense_Mutation_p.P309H|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	309					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	TGTGCCAACCCTATCCTATAT	0.522																																					p.P309H		.											.	SSTR2-522	0			c.C926A						.						144.0	124.0	131.0					17																	71166384		2203	4300	6503	SO:0001583	missense	6752	exon2			CCAACCCTATCCT		CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"""GPCR / Class A : Somatostatin receptors"""	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.926C>A	17.37:g.71166384C>A	ENSP00000350198:p.Pro309His	178	2		135	54	NM_001050	0	0	0	0	0	A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870846	0.72065	.	.	ENSG00000180616	ENST00000357585;ENST00000315332	D;D	0.98807	-5.15;-5.15	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99645	0.9869	H	0.99820	4.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97142	0.9825	10	0.87932	D	0	.	18.677	0.91532	0.0:1.0:0.0:0.0	.	309	P30874	SSR2_HUMAN	H	309	ENSP00000350198:P309H;ENSP00000326616:P309H	ENSP00000326616:P309H	P	+	2	0	SSTR2	68677979	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.577000	0.86979	0.655000	0.94253	CCT	.		0.522	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1		
MRPS7	51081	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	73258729	73258729	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:73258729G>T	ENST00000245539.6	+	2	462	c.235G>T	c.(235-237)Gca>Tca	p.A79S	GGA3_ENST00000245541.6_5'Flank|GGA3_ENST00000582486.1_5'Flank|MRPS7_ENST00000579002.1_Missense_Mutation_p.A108S|GGA3_ENST00000582717.1_5'Flank|GGA3_ENST00000579743.1_5'Flank|MRPS7_ENST00000579761.1_Missense_Mutation_p.A79S|GGA3_ENST00000537686.1_5'Flank|GGA3_ENST00000351904.7_5'Flank|GGA3_ENST00000578348.1_5'Flank|GGA3_ENST00000538886.1_5'Flank	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	79					translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AGCTGCTCCAGCAGGGAAAAC	0.468																																					p.A79S		.											.	MRPS7-90	0			c.G235T						.						126.0	133.0	131.0					17																	73258729		2203	4300	6503	SO:0001583	missense	51081	exon2			GCTCCAGCAGGGA	AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"""Mitochondrial ribosomal proteins / small subunits"""	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.235G>T	17.37:g.73258729G>T	ENSP00000245539:p.Ala79Ser	82	0		50	19	NM_015971	0	0	24	43	19	B2R9N5|Q53GD6	Missense_Mutation	SNP	ENST00000245539.6	37	CCDS11718.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480834	0.26598	.	.	ENSG00000125445	ENST00000245539	T	0.43688	0.94	5.83	-0.047	0.13845	Ribosomal protein S7 domain (2);	0.588557	0.19579	N	0.110905	T	0.13670	0.0331	N	0.04203	-0.255	0.09310	N	1	B	0.15930	0.015	B	0.10450	0.005	T	0.30822	-0.9965	10	0.02654	T	1	-10.375	5.0985	0.14747	0.0624:0.2097:0.3299:0.398	.	79	Q9Y2R9	RT07_HUMAN	S	79	ENSP00000245539:A79S	ENSP00000245539:A79S	A	+	1	0	MRPS7	70770324	0.003000	0.15002	0.002000	0.10522	0.862000	0.49288	0.393000	0.20817	0.065000	0.16485	0.650000	0.86243	GCA	.		0.468	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446666.1	NM_015971	
MRPL38	64978	broad.mit.edu;bcgsc.ca	37	17	73898152	73898152	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:73898152G>T	ENST00000309352.3	-	3	868	c.331C>A	c.(331-333)Cag>Aag	p.Q111K	MRPL38_ENST00000585475.1_5'UTR|MRPL38_ENST00000409963.3_5'UTR|RP11-552F3.10_ENST00000587267.1_RNA	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	111						mitochondrion (GO:0005739)|ribosome (GO:0005840)				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGAAGCTCCTGGATGGCCTGT	0.592																																					p.Q111K		.											.	MRPL38-46	0			c.C331A						.						79.0	71.0	74.0					17																	73898152		2202	4299	6501	SO:0001583	missense	64978	exon3			GCTCCTGGATGGC	AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316		"""Mitochondrial ribosomal proteins / large subunits"""	14033	protein-coding gene	gene with protein product		611844				11543634	Standard	NM_032478		Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.331C>A	17.37:g.73898152G>T	ENSP00000308275:p.Gln111Lys	165	2		110	22	NM_032478	0	0	42	45	3	B3KN96|Q96Q66|Q9P0B9	Missense_Mutation	SNP	ENST00000309352.3	37	CCDS11733.2	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.964781	0.00461	.	.	ENSG00000204316	ENST00000309352	T	0.21543	2.0	5.15	4.12	0.48240	.	0.581184	0.18301	N	0.145411	T	0.07458	0.0188	N	0.03194	-0.395	0.19575	N	0.999962	B	0.02656	0.0	B	0.01281	0.0	T	0.31223	-0.9951	10	0.02654	T	1	.	9.7574	0.40510	0.0:0.1227:0.6532:0.2241	.	111	Q96DV4	RM38_HUMAN	K	111	ENSP00000308275:Q111K	ENSP00000308275:Q111K	Q	-	1	0	MRPL38	71409747	0.020000	0.18652	0.004000	0.12327	0.001000	0.01503	2.100000	0.41777	2.372000	0.80975	0.650000	0.86243	CAG	.		0.592	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1	NM_032478	
AFMID	125061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	76202078	76202078	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:76202078G>T	ENST00000327898.5	+	10	856	c.847G>T	c.(847-849)Gac>Tac	p.D283Y	AFMID_ENST00000409257.5_Missense_Mutation_p.D278Y|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000588800.1_Missense_Mutation_p.W85C					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CCACGATGTGGACCACTTTGA	0.572																																					p.D283Y		.											.	AFMID-136	0			c.G847T						.						83.0	72.0	75.0					17																	76202078		2203	4300	6503	SO:0001583	missense	125061	exon10			GATGTGGACCACT	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.847G>T	17.37:g.76202078G>T	ENSP00000328938:p.Asp283Tyr	106	0		83	21	NM_001145526	0	0	12	14	2		Missense_Mutation	SNP	ENST00000327898.5	37	CCDS45801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.02|16.02	3.003749|3.003749	0.54254|0.54254	.|.	.|.	ENSG00000183077|ENSG00000183077	ENST00000409257;ENST00000327898|ENST00000409722	T|.	0.11063|.	2.81|.	4.14|4.14	4.14|4.14	0.48551|0.48551	Alpha/beta hydrolase fold-3 (1);|.	0.206931|.	0.48767|.	D|.	0.000173|.	D|D	0.84561|0.84561	0.5499|0.5499	M|M	0.92555|0.92555	3.32|3.32	0.80722|0.80722	D|D	1|1	D;D|D	0.89917|0.89917	1.0;1.0|1.0	D;D|D	0.73708|0.80764	0.981;0.967|0.994	D|D	0.88316|0.88316	0.2959|0.2959	10|8	0.72032|0.87932	D|D	0.01|0	-20.5752|-20.5752	13.2364|13.2364	0.59971|0.59971	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	278;283|85	Q63HM1;Q63HM1-2|B8ZZB1	AFMID_HUMAN;.|.	Y|C	278;283|85	ENSP00000386890:D278Y|.	ENSP00000328938:D283Y|ENSP00000387283:W85C	D|W	+|+	1|3	0|0	AFMID|AFMID	73713673|73713673	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.421000|0.421000	0.31385|0.31385	6.176000|6.176000	0.71955|0.71955	2.124000|2.124000	0.65301|0.65301	0.561000|0.561000	0.74099|0.74099	GAC|TGG	.		0.572	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333203.1	XM_058889	
TIMP2	7077	broad.mit.edu	37	17	76886822	76886822	+	Intron	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:76886822C>A	ENST00000262768.7	-	2	429				TIMP2_ENST00000536189.2_Intron|DDC8_ENST00000322630.2_Missense_Mutation_p.M588I	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2						aging (GO:0007568)|cellular response to organic substance (GO:0071310)|central nervous system development (GO:0007417)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of proteolysis (GO:0045861)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|regulation of Rap protein signal transduction (GO:0032487)|response to cytokine (GO:0034097)|response to drug (GO:0042493)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			GGTCTCGGATCATCTGACTGT	0.562																																					p.M588I		.											.	.	0			c.G1764T						.																																			SO:0001627	intron_variant	0	exon3			TCGGATCATCTGA		CCDS11758.1	17q25	2008-07-18	2005-08-08		ENSG00000035862	ENSG00000035862			11821	protein-coding gene	gene with protein product		188825	"""tissue inhibitor of metalloproteinase 2"""			1427908	Standard	NM_003255		Approved	CSC-21K	uc002jwf.3	P16035	OTTHUMG00000154517	ENST00000262768.7:c.131-16821G>T	17.37:g.76886822C>A		57	2		52	10	NM_001243540	0	0	0	0	0	Q16121|Q93006|Q9UDF7	Missense_Mutation	SNP	ENST00000262768.7	37	CCDS11758.1	.	.	.	.	.	.	.	.	.	.	C	9.485	1.099265	0.20552	.	.	ENSG00000178404	ENST00000322630	T	0.32753	1.44	4.31	3.33	0.38152	.	0.283891	0.25490	N	0.030306	T	0.32941	0.0846	.	.	.	0.80722	D	1	P	0.50943	0.94	P	0.47015	0.534	T	0.08911	-1.0699	9	0.45353	T	0.12	-8.0179	10.3123	0.43716	0.0:0.8005:0.1995:0.0	.	588	Q96MC4	.	I	588	ENSP00000312767:M588I	ENSP00000312767:M588I	M	-	3	0	AC100788.1	74398417	0.673000	0.27539	0.942000	0.38095	0.026000	0.11368	1.605000	0.36815	1.377000	0.46286	0.655000	0.94253	ATG	.		0.562	TIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335662.1	NM_003255	
TBC1D16	125058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	77984098	77984098	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:77984098C>A	ENST00000310924.2	-	3	755	c.640G>T	c.(640-642)Gaa>Taa	p.E214*		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	214	Ser-rich.						Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCTGACAGTTCCAAAGAGCCA	0.667																																					p.E214X	Ovarian(14;397 562 4850 31922 49378)	.											.	TBC1D16-90	0			c.G640T						.						56.0	54.0	55.0					17																	77984098		2203	4299	6502	SO:0001587	stop_gained	125058	exon3			ACAGTTCCAAAGA	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.640G>T	17.37:g.77984098C>A	ENSP00000309794:p.Glu214*	174	0		152	75	NM_019020	0	0	0	1	1	B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Nonsense_Mutation	SNP	ENST00000310924.2	37	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091389	0.94149	.	.	ENSG00000167291	ENST00000310924	.	.	.	4.86	4.86	0.63082	.	0.382963	0.31772	N	0.007084	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-17.0463	17.9874	0.89159	0.0:1.0:0.0:0.0	.	.	.	.	X	214	.	ENSP00000309794:E214X	E	-	1	0	TBC1D16	75598693	1.000000	0.71417	0.991000	0.47740	0.061000	0.15899	6.997000	0.76270	2.244000	0.73946	0.591000	0.81541	GAA	.		0.667	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020	
FSCN2	25794	hgsc.bcm.edu	37	17	79504073	79504073	+	Silent	SNP	C	C	T	rs143561119	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:79504073C>T	ENST00000417245.2	+	5	1582	c.1446C>T	c.(1444-1446)gaC>gaT	p.D482D	FSCN2_ENST00000334850.7_Silent_p.D506D	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	482					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCGATGCCGACGCCCCGGCCG	0.736													C|||	110	0.0219649	0.0061	0.0331	5008	,	,		8422	0.0		0.0736	False		,,,				2504	0.0051				p.D506D		.											.	.	0			c.C1518T						.						1.0	2.0	2.0					17																	79504073		1028	2406	3434	SO:0001819	synonymous_variant	25794	exon5			TGCCGACGCCCCG	AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"""Fascins"""	3960	protein-coding gene	gene with protein product		607643	"""fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)"", ""fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"""			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.1446C>T	17.37:g.79504073C>T		0	0		7	6	NM_001077182	0	0	0	0	0	A0AVC4|A8MRA6	Silent	SNP	ENST00000417245.2	37	CCDS45811.1																																																																																			C|0.964;T|0.036		0.736	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1	NM_012418	
TMEM200C	645369	hgsc.bcm.edu	37	18	5890571	5890571	+	Missense_Mutation	SNP	T	T	C	rs7506026	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:5890571T>C	ENST00000581347.2	-	3	2137	c.1492A>G	c.(1492-1494)Agc>Ggc	p.S498G	RP11-945C19.4_ENST00000582939.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.S498G|RP11-945C19.4_ENST00000580845.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	498	Pro-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GCCAGAGGGCTGGAGTCCGGG	0.791													T|||	237	0.0473243	0.0847	0.0375	5008	,	,		7356	0.001		0.0775	False		,,,				2504	0.0204				p.S498G		.											.	.	0			c.A1492G						.	T	GLY/SER	155,2477		3,149,1164	3.0	3.0	3.0		1492	-1.2	0.0	18	dbSNP_116	3	267,5869		4,259,2805	no	missense	TMEM200C	NM_001080209.1	56	7,408,3969	CC,CT,TT		4.3514,5.8891,4.813	benign	498/622	5890571	422,8346	1316	3068	4384	SO:0001583	missense	645369	exon1			GAGGGCTGGAGTC		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.1492A>G	18.37:g.5890571T>C	ENSP00000463375:p.Ser498Gly	0	0		9	7	NM_001080209	0	0	0	0	0		Missense_Mutation	SNP	ENST00000581347.2	37	CCDS45825.1	128	0.05860805860805861	46	0.09349593495934959	17	0.04696132596685083	3	0.005244755244755245	62	0.08179419525065963	T	13.97	2.397165	0.42512	0.058891	0.043514	ENSG00000206432	ENST00000383490	.	.	.	4.37	-1.18	0.09617	.	.	.	.	.	T	0.00496	0.0016	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22800	-1.0206	8	0.08599	T	0.76	.	4.9842	0.14182	0.1362:0.3204:0.0:0.5434	rs7506026	498	A6NKL6	T200C_HUMAN	G	498	.	ENSP00000372982:S498G	S	-	1	0	TMEM200C	5880571	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.166000	0.09954	-0.178000	0.10672	0.459000	0.35465	AGC	T|0.941;C|0.059		0.791	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209	
TWSG1	57045	broad.mit.edu	37	18	9399488	9399488	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:9399488G>T	ENST00000262120.5	+	5	826	c.635G>T	c.(634-636)gGt>gTt	p.G212V		NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	212					BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						ATTGACTATGGTAGTAAAACT	0.358																																					p.G212V		.											.	TWSG1-92	0			c.G635T						.						99.0	94.0	96.0					18																	9399488		2203	4300	6503	SO:0001583	missense	57045	exon5			ACTATGGTAGTAA	AA486291	CCDS11844.1	18p11.3	2013-10-03	2013-10-03		ENSG00000128791	ENSG00000128791			12429	protein-coding gene	gene with protein product		605049	"""twisted gastrulation homolog 1 (Drosophila)"""			11260715	Standard	NM_020648		Approved	TSG	uc002knz.3	Q9GZX9	OTTHUMG00000131597	ENST00000262120.5:c.635G>T	18.37:g.9399488G>T	ENSP00000262120:p.Gly212Val	92	0		62	4	NM_020648	0	0	5	5	0	B2RE08|D3DUH9|Q8NBI7|Q96K46	Missense_Mutation	SNP	ENST00000262120.5	37	CCDS11844.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768316	0.90020	.	.	ENSG00000128791	ENST00000262120	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.83825	0.5338	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86867	0.2033	9	0.87932	D	0	-31.1142	17.3385	0.87289	0.0:0.0:1.0:0.0	.	212	Q9GZX9	TWSG1_HUMAN	V	212	.	ENSP00000262120:G212V	G	+	2	0	TWSG1	9389488	1.000000	0.71417	0.972000	0.41901	0.986000	0.74619	9.771000	0.98977	2.341000	0.79615	0.455000	0.32223	GGT	.		0.358	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254480.2		
ANKRD30B	374860	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	14748544	14748544	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:14748544C>A	ENST00000358984.4	+	1	306	c.126C>A	c.(124-126)atC>atA	p.I42I	ANKRD30B_ENST00000447268.2_Silent_p.I42I|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	42										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAGGGAAGATCCATACAGCTG	0.577																																					p.I42I		.											.	ANKRD30B-24	0			c.C126A						.						38.0	40.0	39.0					18																	14748544		692	1591	2283	SO:0001819	synonymous_variant	374860	exon1			GAAGATCCATACA	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.126C>A	18.37:g.14748544C>A		100	1		79	51	NM_001145029	0	0	0	0	0	B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	CCDS54182.1																																																																																			.		0.577	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029	
ROCK1	6093	broad.mit.edu	37	18	18586509	18586509	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:18586509C>A	ENST00000399799.2	-	16	2628	c.1688G>T	c.(1687-1689)aGa>aTa	p.R563I		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	563	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTTCCTCAATCTTACAGCTGT	0.368																																					p.R563I		.											.	ROCK1-1026	0			c.G1688T						.						130.0	113.0	119.0					18																	18586509		2203	4300	6503	SO:0001583	missense	6093	exon16			CTCAATCTTACAG		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1688G>T	18.37:g.18586509C>A	ENSP00000382697:p.Arg563Ile	61	2		60	9	NM_005406	0	0	3	6	3	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996324	0.93167	.	.	ENSG00000067900	ENST00000399799	T	0.66280	-0.2	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.81574	0.4851	M	0.82517	2.595	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.83496	0.0072	10	0.87932	D	0	.	19.4568	0.94895	0.0:1.0:0.0:0.0	.	563	Q13464	ROCK1_HUMAN	I	563	ENSP00000382697:R563I	ENSP00000382697:R563I	R	-	2	0	ROCK1	16840507	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.320000	0.79064	2.832000	0.97577	0.655000	0.94253	AGA	.		0.368	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406	
DSC3	1825	broad.mit.edu	37	18	28610987	28610987	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:28610987C>A	ENST00000360428.4	-	3	386	c.306G>T	c.(304-306)agG>agT	p.R102S	DSC3_ENST00000434452.1_Missense_Mutation_p.R102S	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	102			R -> K (in dbSNP:rs276938).		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GTGTCTGTTTCCTTTTGTCAG	0.358																																					p.R102S		.											.	DSC3-94	0			c.G306T						.						102.0	92.0	96.0					18																	28610987		2203	4300	6503	SO:0001583	missense	1825	exon3			CTGTTTCCTTTTG	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.306G>T	18.37:g.28610987C>A	ENSP00000353608:p.Arg102Ser	95	1		99	4	NM_024423	0	0	0	0	0	A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	C	4.060	0.008861	0.07912	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.59638	0.25;0.25	5.28	3.51	0.40186	Cadherin prodomain-like (1);Cadherin-like (1);	.	.	.	.	T	0.42988	0.1227	N	0.19112	0.55	0.09310	N	1	B;B	0.15141	0.002;0.012	B;B	0.17979	0.02;0.012	T	0.37731	-0.9693	9	0.56958	D	0.05	.	10.6142	0.45441	0.0:0.8427:0.0:0.1573	.	102;102	Q14574;Q14574-2	DSC3_HUMAN;.	S	102	ENSP00000353608:R102S;ENSP00000392068:R102S	ENSP00000353608:R102S	R	-	3	2	DSC3	26864985	0.009000	0.17119	0.022000	0.16811	0.007000	0.05969	0.631000	0.24568	0.816000	0.34421	0.555000	0.69702	AGG	.		0.358	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423	
FHOD3	80206	broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	34320707	34320707	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:34320707C>A	ENST00000359247.4	+	17	3089	c.3089C>A	c.(3088-3090)gCa>gAa	p.A1030E	FHOD3_ENST00000445677.1_Missense_Mutation_p.A1009E|FHOD3_ENST00000257209.4_Missense_Mutation_p.A1047E|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1222E|FHOD3_ENST00000591635.1_Missense_Mutation_p.A243E|FHOD3_ENST00000592128.1_Missense_Mutation_p.A26E	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1030	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CTGGGCAGTGCAGAGCAGTTC	0.498																																					p.A1047E		.											.	FHOD3-139	0			c.C3140A						.						87.0	77.0	80.0					18																	34320707		2203	4300	6503	SO:0001583	missense	80206	exon18			GCAGTGCAGAGCA	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3089C>A	18.37:g.34320707C>A	ENSP00000352186:p.Ala1030Glu	167	2		160	35	NM_025135	0	0	24	27	3	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	C	26.1	4.700512	0.88924	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.20200	2.09;2.09;2.09	6.04	6.04	0.98038	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	M	0.85041	2.73	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;1.0	T	0.53746	-0.8395	10	0.52906	T	0.07	.	19.1729	0.93588	0.0:1.0:0.0:0.0	.	251;1009;1030;1047	E7ETX5;Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;.;FHOD3_HUMAN;.	E	1047;1030;1009	ENSP00000257209:A1047E;ENSP00000352186:A1030E;ENSP00000411430:A1009E	ENSP00000257209:A1047E	A	+	2	0	FHOD3	32574705	1.000000	0.71417	0.907000	0.35723	0.577000	0.36160	7.798000	0.85924	2.873000	0.98535	0.563000	0.77884	GCA	.		0.498	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	
SLC14A2	8170	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	43221304	43221304	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:43221304C>A	ENST00000255226.6	+	8	1938	c.1122C>A	c.(1120-1122)atC>atA	p.I374I	SLC14A2_ENST00000586448.1_Silent_p.I374I	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	374					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGCCCTCATCTGTGGTAGGT	0.522																																					p.I374I		.											.	SLC14A2-93	0			c.C1122A						.						105.0	83.0	90.0					18																	43221304		2203	4300	6503	SO:0001819	synonymous_variant	8170	exon9			CCTCATCTGTGGT	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1122C>A	18.37:g.43221304C>A		102	0		79	30	NM_001242692	0	0	0	0	0	A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	CCDS11924.1																																																																																			.		0.522	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		
SKA1	220134	ucsc.edu	37	18	47908517	47908517	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:47908517G>T	ENST00000285116.3	+	4	443	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	SKA1_ENST00000488454.1_5'UTR|SKA1_ENST00000417656.2_Nonsense_Mutation_p.E78*|SKA1_ENST00000398452.2_Nonsense_Mutation_p.E78*	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	78					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						TGAATCTCTTGAAGAAGATTA	0.348																																					p.E78X		.											.	SKA1-90	0			c.G232T						.						71.0	74.0	73.0					18																	47908517		2203	4300	6503	SO:0001587	stop_gained	220134	exon4			TCTCTTGAAGAAG	BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 24"""	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.232G>T	18.37:g.47908517G>T	ENSP00000285116:p.Glu78*	128	3		171	16	NM_001039535	0	0	2	2	0	B2R9Y6|B4E0P4	Nonsense_Mutation	SNP	ENST00000285116.3	37	CCDS11946.1	.	.	.	.	.	.	.	.	.	.	G	37	6.598228	0.97692	.	.	ENSG00000154839	ENST00000285116;ENST00000417656;ENST00000398452	.	.	.	5.66	4.77	0.60923	.	0.221576	0.46442	D	0.000297	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-1.2306	12.8265	0.57723	0.0803:0.0:0.9197:0.0	.	.	.	.	X	78	.	ENSP00000285116:E78X	E	+	1	0	SKA1	46162515	1.000000	0.71417	0.989000	0.46669	0.963000	0.63663	3.370000	0.52372	1.360000	0.45960	0.561000	0.74099	GAA	.		0.348	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255982.2	NM_145060	
ALPK2	115701	broad.mit.edu	37	18	56171296	56171296	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:56171296C>A	ENST00000361673.3	-	11	6327	c.6114G>T	c.(6112-6114)gtG>gtT	p.V2038V		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2038	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGGAATACTTCACAAATTCTC	0.438																																					p.V2038V		.											.	ALPK2-765	0			c.G6114T						.						182.0	175.0	177.0					18																	56171296		2203	4300	6503	SO:0001819	synonymous_variant	115701	exon11			ATACTTCACAAAT	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.6114G>T	18.37:g.56171296C>A		114	1		86	4	NM_052947	0	0	0	0	0	Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	CCDS11966.2																																																																																			.		0.438	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
TNFRSF11A	8792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	60036497	60036497	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:60036497C>G	ENST00000586569.1	+	9	1385	c.1347C>G	c.(1345-1347)tgC>tgG	p.C449W	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	449					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GCACAGGCTGCCGGAACCCTC	0.617																																					p.C449W		.											.	TNFRSF11A-659	0			c.C1347G						.						33.0	35.0	34.0					18																	60036497		2202	4300	6502	SO:0001583	missense	8792	exon9			AGGCTGCCGGAAC	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.1347C>G	18.37:g.60036497C>G	ENSP00000465500:p.Cys449Trp	48	0		42	35	NM_003839	0	0	0	0	0	I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891669	0.52014	.	.	ENSG00000141655	ENST00000269485	.	.	.	4.55	1.72	0.24424	.	13.009000	0.00769	U	0.001188	T	0.61489	0.2351	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	D	0.69142	0.962	T	0.21008	-1.0258	8	.	.	.	-8.485	7.262	0.26209	0.0:0.6181:0.0:0.3819	.	449	Q9Y6Q6	TNR11_HUMAN	W	449	.	.	C	+	3	2	TNFRSF11A	58187477	0.006000	0.16342	0.005000	0.12908	0.499000	0.33736	-0.145000	0.10265	0.038000	0.15604	0.563000	0.77884	TGC	.		0.617	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2		
CCDC102B	79839	broad.mit.edu	37	18	66505987	66505987	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:66505987G>T	ENST00000360242.5	+	3	768	c.651G>T	c.(649-651)atG>atT	p.M217I	CCDC102B_ENST00000319445.6_Missense_Mutation_p.M217I|CCDC102B_ENST00000358653.5_Missense_Mutation_p.M217I|CCDC102B_ENST00000584156.1_Missense_Mutation_p.M217I|CCDC102B_ENST00000577772.1_3'UTR	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	217										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GTGAGGAGATGAAGCCCAATC	0.373																																					p.M217I		.											.	CCDC102B-93	0			c.G651T						.						98.0	99.0	99.0					18																	66505987		2203	4300	6503	SO:0001583	missense	79839	exon5			GGAGATGAAGCCC	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.651G>T	18.37:g.66505987G>T	ENSP00000353377:p.Met217Ile	81	3		101	15	NM_001093729	0	0	0	0	0	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	G	2.308	-0.358497	0.05138	.	.	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.59502	0.26;0.26;0.26	5.37	4.27	0.50696	.	0.669320	0.14135	N	0.339102	T	0.46483	0.1395	L	0.42245	1.32	0.20307	N	0.999912	B;B	0.24426	0.009;0.103	B;B	0.21546	0.005;0.035	T	0.35226	-0.9797	10	0.34782	T	0.22	-0.2479	6.8079	0.23788	0.2653:0.0:0.7347:0.0	.	217;217	Q68D86-3;Q68D86	.;C102B_HUMAN	I	217	ENSP00000316237:M217I;ENSP00000351479:M217I;ENSP00000353377:M217I	ENSP00000316237:M217I	M	+	3	0	CCDC102B	64656967	0.703000	0.27826	0.248000	0.24265	0.038000	0.13279	0.740000	0.26188	0.964000	0.38108	0.591000	0.81541	ATG	.		0.373	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781	
NFATC1	4772	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	18	77246918	77246918	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:77246918C>A	ENST00000427363.2	+	9	2763	c.2763C>A	c.(2761-2763)gaC>gaA	p.D921E	NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000329101.4_Missense_Mutation_p.D908E|NFATC1_ENST00000545796.1_Missense_Mutation_p.D449E|NFATC1_ENST00000253506.5_Intron			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	921	Trans-activation domain B (TAD-B).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	AAGAGTTGGACCAGTTGTACC	0.637																																					p.D908E	GBM(151;1210 2593 28719 45011)	.											.	NFATC1-290	0			c.C2724A						.						51.0	43.0	46.0					18																	77246918		2091	4115	6206	SO:0001583	missense	4772	exon9			GTTGGACCAGTTG	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.2763C>A	18.37:g.77246918C>A	ENSP00000389377:p.Asp921Glu	61	0		98	6	NM_172387	0	0	0	0	0	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37		.	.	.	.	.	.	.	.	.	.	C	18.78	3.697699	0.68386	.	.	ENSG00000131196	ENST00000318065;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	T;T	0.54479	1.66;0.57	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	L	0.45352	1.415	0.47819	D	0.999527	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.59521	-0.7439	9	.	.	.	-39.5862	11.2413	0.48970	0.0:0.9155:0.0:0.0845	.	921;908	O95644;B5B2M5	NFAC1_HUMAN;.	E	921;908;449;908;885	ENSP00000327850:D908E;ENSP00000439992:D449E	.	D	+	3	2	NFATC1	75347906	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	2.426000	0.44731	2.246000	0.74042	0.561000	0.74099	GAC	.		0.637	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390	
ABCA7	10347	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	1047284	1047284	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:1047284C>A	ENST00000263094.6	+	15	2205	c.1974C>A	c.(1972-1974)gcC>gcA	p.A658A	ABCA7_ENST00000435683.2_Silent_p.A520A|ABCA7_ENST00000433129.1_Silent_p.A658A|ABCA7_ENST00000533574.1_3'UTR	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	658					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCTGCGGCCTGCGGCGGCC	0.706																																					p.A658A		.											.	ABCA7-98	0			c.C1974A						.						24.0	22.0	23.0					19																	1047284		2196	4296	6492	SO:0001819	synonymous_variant	10347	exon15			TGCGGCCTGCGGC	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1974C>A	19.37:g.1047284C>A		34	0		60	9	NM_019112	0	0	1	1	0	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																			.		0.706	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	
ADAT3	113179	hgsc.bcm.edu	37	19	1912817	1912817	+	Silent	SNP	C	C	T	rs35870594	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:1912817C>T	ENST00000602400.1	+	2	951	c.723C>T	c.(721-723)taC>taT	p.Y241Y	ADAT3_ENST00000329478.2_Silent_p.Y257Y|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000316097.8_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	241					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCACCTACGACTTCAGAC	0.741													C|||	483	0.0964457	0.0968	0.1527	5008	,	,		9567	0.122		0.0636	False		,,,				2504	0.0634				p.Y257Y		.											.	ADAT3-154	0			c.C771T						.	C	,	245,3961		8,229,1866	7.0	9.0	8.0		,723	-9.6	0.0	19	dbSNP_126	8	305,7811		7,291,3760	no	intron,coding-synonymous	SCAMP4,ADAT3	NM_079834.2,NM_138422.1	,	15,520,5626	TT,TC,CC		3.758,5.825,4.4636	,	,241/352	1912817	550,11772	2103	4058	6161	SO:0001819	synonymous_variant	113179	exon2			CACCTACGACTTC	BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"""tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"""	615302	"""adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"""			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	ENST00000602400.1:c.723C>T	19.37:g.1912817C>T		0	0		5	4	NM_138422	0	0	1	2	1		Silent	SNP	ENST00000602400.1	37																																																																																				C|0.899;T|0.101		0.741	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138422	
LMNB2	84823	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	2434856	2434856	+	Missense_Mutation	SNP	C	C	T	rs567796688		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:2434856C>T	ENST00000582871.1	-	6	937	c.851G>A	c.(850-852)cGc>cAc	p.R284H	LMNB2_ENST00000325327.3_Missense_Mutation_p.R304H	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	284	Coil 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCTCCTCGCGAGCCGCACT	0.706																																					p.R304H		.											.	LMNB2-290	0			c.G911A						.						17.0	15.0	16.0					19																	2434856		2187	4268	6455	SO:0001583	missense	84823	exon6			TCCTCGCGAGCCG	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.851G>A	19.37:g.2434856C>T	ENSP00000462730:p.Arg284His	41	0		105	26	NM_032737	0	0	10	12	2	O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37		.	.	.	.	.	.	.	.	.	.	C	13.31	2.198508	0.38806	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.43	3.39	0.38822	Filament (1);	0.000000	0.85682	D	0.000000	T	0.58075	0.2097	M	0.63208	1.945	0.58432	D	0.999996	D	0.56521	0.976	P	0.49085	0.6	T	0.54906	-0.8223	9	0.25106	T	0.35	.	10.8346	0.46679	0.0:0.9053:0.0:0.0947	.	284	Q03252	LMNB2_HUMAN	H	284	.	ENSP00000327054:R284H	R	-	2	0	LMNB2	2385856	0.965000	0.33210	0.176000	0.23000	0.824000	0.46624	2.397000	0.44477	0.844000	0.35094	0.561000	0.74099	CGC	.		0.706	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737	
PIP5K1C	23396	broad.mit.edu	37	19	3644184	3644184	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:3644184G>T	ENST00000335312.3	-	12	1499	c.1411C>A	c.(1411-1413)Ccc>Acc	p.P471T	PIP5K1C_ENST00000539785.1_Missense_Mutation_p.P471T|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.P471T|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.P471T	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	471					actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GCAGCGGTGGGCCCCAGCGGT	0.697																																					p.P471T	Esophageal Squamous(135;99 1744 12852 27186 39851)	.											.	PIP5K1C-267	0			c.C1411A						.						33.0	39.0	37.0					19																	3644184		2202	4298	6500	SO:0001583	missense	23396	exon12			CGGTGGGCCCCAG	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1411C>A	19.37:g.3644184G>T	ENSP00000335333:p.Pro471Thr	33	1		129	6	NM_001195733	0	0	12	13	1	B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	ENST00000335312.3	37	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492391	0.26774	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.27104	1.72;1.72;1.69	4.66	4.66	0.58398	.	0.056271	0.64402	D	0.000001	T	0.19327	0.0464	L	0.31065	0.9	0.51233	D	0.999915	B;B	0.25955	0.138;0.085	B;B	0.23852	0.049;0.022	T	0.04255	-1.0965	10	0.48119	T	0.1	-33.0976	11.746	0.51819	0.0:0.0:0.8238:0.1762	.	471;471	O60331-3;O60331	.;PI51C_HUMAN	T	471	ENSP00000335333:P471T;ENSP00000445992:P471T;ENSP00000444779:P471T	ENSP00000335333:P471T	P	-	1	0	PIP5K1C	3595184	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	7.295000	0.78780	2.146000	0.66826	0.491000	0.48974	CCC	.		0.697	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398	
TICAM1	148022	bcgsc.ca	37	19	4817397	4817397	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:4817397C>A	ENST00000248244.5	-	2	1222	c.993G>T	c.(991-993)caG>caT	p.Q331H		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	331	Pro-rich.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGAGTGGCGTCTGGTCTTTGA	0.582																																					p.Q331H		.											.	TICAM1-153	0			c.G993T						.						52.0	55.0	54.0					19																	4817397		2199	4290	6489	SO:0001583	missense	148022	exon2			TGGCGTCTGGTCT	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.993G>T	19.37:g.4817397C>A	ENSP00000248244:p.Gln331His	62	2		96	42	NM_182919	0	0	2	2	0	B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625267	0.46840	.	.	ENSG00000127666	ENST00000248244	T	0.48522	0.81	4.49	1.82	0.25136	.	1.172480	0.06616	U	0.756554	T	0.42765	0.1217	L	0.60455	1.87	0.09310	N	1	B	0.24186	0.099	B	0.17433	0.018	T	0.39781	-0.9597	10	0.54805	T	0.06	-1.887	5.644	0.17579	0.0:0.65:0.1956:0.1544	.	331	Q8IUC6	TCAM1_HUMAN	H	331	ENSP00000248244:Q331H	ENSP00000248244:Q331H	Q	-	3	2	TICAM1	4768397	0.000000	0.05858	0.024000	0.17045	0.013000	0.08279	0.014000	0.13333	0.969000	0.38237	0.297000	0.19635	CAG	.		0.582	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261	
ARHGEF18	23370	broad.mit.edu	37	19	7516148	7516148	+	Silent	SNP	G	G	A	rs549053506		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:7516148G>A	ENST00000359920.6	+	6	1540	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.R387Q|ARHGEF18_ENST00000319670.9_Silent_p.T271T	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	429	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TCCAGAACACGGAAGGTAGGC	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14646	0.0		0.0	False		,,,				2504	0.0				p.T429T		.											.	ARHGEF18-228	0			c.G1287A						.						85.0	59.0	67.0					19																	7516148		2203	4300	6503	SO:0001819	synonymous_variant	23370	exon6			GAACACGGAAGGT	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1287G>A	19.37:g.7516148G>A		117	0		164	5	NM_001130955	0	0	0	0	0	A8MV62|B5ME81|O60274|Q6DD92	Silent	SNP	ENST00000359920.6	37	CCDS45946.1																																																																																			.		0.582	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318	
STXBP2	6813	broad.mit.edu;bcgsc.ca	37	19	7708095	7708095	+	Silent	SNP	C	C	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:7708095C>T	ENST00000221283.5	+	13	1102	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	STXBP2_ENST00000602355.1_5'Flank|STXBP2_ENST00000441779.2_Silent_p.F368F|STXBP2_ENST00000414284.2_Silent_p.F354F	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	357					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGAAGCACTTCAAGGGCTCGG	0.602																																					p.F368F		.											.	STXBP2-91	0			c.C1104T						.						88.0	73.0	78.0					19																	7708095		2203	4300	6503	SO:0001819	synonymous_variant	6813	exon13			GCACTTCAAGGGC	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1071C>T	19.37:g.7708095C>T		52	1		86	26	NM_001272034	0	0	36	44	8	B4E175|E7EQD5|Q9BU65	Silent	SNP	ENST00000221283.5	37	CCDS12181.1																																																																																			.		0.602	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949	
LRRC8E	80131	broad.mit.edu	37	19	7964190	7964190	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:7964190G>T	ENST00000306708.6	+	3	884	c.783G>T	c.(781-783)ctG>ctT	p.L261L	AC010336.1_ENST00000539278.1_3'UTR|RN7SL115P_ENST00000392196.5_RNA	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	261					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						AGACGGTGCTGAAAGTGTGTA	0.537																																					p.L261L		.											.	LRRC8E-92	0			c.G783T						.						142.0	115.0	124.0					19																	7964190		2203	4300	6503	SO:0001819	synonymous_variant	80131	exon4			GGTGCTGAAAGTG		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.783G>T	19.37:g.7964190G>T		199	1		257	10	NM_001268284	0	0	2	5	3	B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	ENST00000306708.6	37	CCDS12189.1																																																																																			.		0.537	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061	
CDC37	11140	broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	10503780	10503780	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:10503780G>T	ENST00000222005.2	-	7	1016	c.963C>A	c.(961-963)atC>atA	p.I321I		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	321					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CCATCTTGCTGATGGCGTCCT	0.662																																					p.I321I		.											.	CDC37-522	0			c.C963A						.						54.0	52.0	52.0					19																	10503780		2203	4300	6503	SO:0001819	synonymous_variant	11140	exon7			CTTGCTGATGGCG	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.963C>A	19.37:g.10503780G>T		56	1		70	18	NM_007065	0	0	297	375	78	Q53YA2	Silent	SNP	ENST00000222005.2	37	CCDS12237.1																																																																																			.		0.662	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065	
PDE4A	5141	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	10574513	10574513	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:10574513C>A	ENST00000352831.6	+	14	1898	c.1788C>A	c.(1786-1788)acC>acA	p.T596T	PDE4A_ENST00000344979.3_Silent_p.T357T|PDE4A_ENST00000440014.2_Silent_p.T535T|PDE4A_ENST00000380702.2_Silent_p.T574T|PDE4A_ENST00000592685.1_Silent_p.T574T|PDE4A_ENST00000293683.5_Silent_p.T570T	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	596	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	GCAACCCCACCAAGCCGCTGG	0.622																																					p.T596T		.											.	PDE4A-523	0			c.C1788A						.						99.0	78.0	85.0					19																	10574513		2203	4300	6503	SO:0001819	synonymous_variant	5141	exon14			CCCCACCAAGCCG		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1788C>A	19.37:g.10574513C>A		249	4		324	91	NM_001111307	0	0	0	0	0	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	37	CCDS45961.1																																																																																			.		0.622	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1		
PLPPR2	64748	broad.mit.edu	37	19	11472132	11472132	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:11472132G>T	ENST00000251473.5	+	6	1007	c.631G>T	c.(631-633)Gcc>Tcc	p.A211S	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.A186S	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CAAGGATGCGGCCCTCTGCGC	0.692																																					p.A211S		.											.	LPPR2-153	0			c.G631T						.						26.0	29.0	28.0					19																	11472132		2199	4277	6476	SO:0001583	missense	0	exon6			GATGCGGCCCTCT																												ENST00000251473.5:c.631G>T	19.37:g.11472132G>T	ENSP00000251473:p.Ala211Ser	15	0		118	7	NM_022737	0	0	15	17	2		Missense_Mutation	SNP	ENST00000251473.5	37	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	g	33	5.243323	0.95272	.	.	ENSG00000105520	ENST00000251473	T	0.75477	-0.94	5.36	5.36	0.76844	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70613	0.3244	N	0.16166	0.38	0.80722	D	1	P;P	0.45902	0.851;0.868	P;P	0.59012	0.58;0.85	T	0.64415	-0.6413	10	0.02654	T	1	-25.3512	17.8761	0.88825	0.0:0.0:1.0:0.0	.	186;211	Q96GM1-2;Q96GM1	.;LPPR2_HUMAN	S	211	ENSP00000251473:A211S	ENSP00000251473:A211S	A	+	1	0	AC024575.1	11333132	1.000000	0.71417	0.969000	0.41365	0.979000	0.70002	7.161000	0.77505	2.524000	0.85096	0.550000	0.68814	GCC	.		0.692	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1		
CNN1	1264	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	11657510	11657510	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:11657510C>A	ENST00000252456.2	+	3	417	c.206C>A	c.(205-207)cCa>cAa	p.P69Q	CNN1_ENST00000544952.1_Missense_Mutation_p.P49Q|CNN1_ENST00000592923.1_Missense_Mutation_p.P19Q|CNN1_ENST00000535659.2_Missense_Mutation_p.P19Q	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	69	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						AAGCTGCAGCCAGGCTCCGTG	0.557																																					p.P69Q		.											.	CNN1-90	0			c.C206A						.						120.0	105.0	110.0					19																	11657510		2203	4300	6503	SO:0001583	missense	1264	exon3			TGCAGCCAGGCTC	U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.206C>A	19.37:g.11657510C>A	ENSP00000252456:p.Pro69Gln	69	0		138	45	NM_001299	0	0	10	10	0	B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Missense_Mutation	SNP	ENST00000252456.2	37	CCDS12263.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732244	0.69189	.	.	ENSG00000130176	ENST00000252456;ENST00000535659;ENST00000544952	D;D;D	0.97378	-4.36;-4.36;-4.36	4.46	4.46	0.54185	Calponin homology domain (5);	0.054211	0.85682	D	0.000000	D	0.98836	0.9607	H	0.95437	3.67	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.99577	1.0972	10	0.87932	D	0	-21.5793	14.6202	0.68579	0.0:1.0:0.0:0.0	.	69	P51911	CNN1_HUMAN	Q	69;19;49	ENSP00000252456:P69Q;ENSP00000442031:P19Q;ENSP00000437470:P49Q	ENSP00000252456:P69Q	P	+	2	0	CNN1	11518510	1.000000	0.71417	0.993000	0.49108	0.599000	0.36880	7.488000	0.81441	2.047000	0.60756	0.543000	0.68304	CCA	.		0.557	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458854.1	NM_001299	
CACNA1A	773	hgsc.bcm.edu	37	19	13409696	13409696	+	Missense_Mutation	SNP	C	C	G	rs16022	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:13409696C>G	ENST00000360228.5	-	19	2750	c.2751G>C	c.(2749-2751)gaG>gaC	p.E917D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E918D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	918					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.E918D(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGCCTCGCCCTCCCAGAACC	0.776													C|||	530	0.105831	0.0605	0.1254	5008	,	,		10618	0.1171		0.1471	False		,,,				2504	0.0992				p.E918D		.											.	CACNA1A-67	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	c.G2754C						.	C	ASP/GLU,ASP/GLU,ASP/GLU,ASP/GLU,ASP/GLU	206,3316		5,196,1560	8.0	9.0	8.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2763,2754,2751,2754,2763	1.5	0.9	19	dbSNP_54	8	883,6727		33,817,2955	no	missense,missense,missense,missense,missense	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	45,45,45,45,45	38,1013,4515	GG,GC,CC		11.6032,5.8489,9.7826	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	921/2267,918/2262,917/2507,918/2264,921/2513	13409696	1089,10043	1761	3805	5566	SO:0001583	missense	773	exon19			CTCGCCCTCCCAG	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2751G>C	19.37:g.13409696C>G	ENSP00000353362:p.Glu917Asp	0	0		13	5	NM_001127221	0	0	0	0	0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	247	0.1130952380952381	27	0.054878048780487805	43	0.11878453038674033	69	0.12062937062937062	108	0.1424802110817942	C	2.711	-0.268795	0.05716	0.058489	0.116032	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96265	-3.96	3.79	1.49	0.22878	.	4.032560	0.00550	N	0.000240	T	0.06508	0.0167	N	0.03608	-0.345	0.58432	P	9.99999999995449E-6	B;B;B	0.24963	0.0;0.001;0.115	B;B;B	0.24848	0.001;0.003;0.056	T	0.70303	-0.4909	9	0.30854	T	0.27	.	5.84	0.18629	0.0:0.484:0.3995:0.1165	rs16022;rs3752173	918;921;917	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	D	917;921;918;918	ENSP00000353362:E917D	ENSP00000317661:E918D	E	-	3	2	CACNA1A	13270696	0.372000	0.25064	0.886000	0.34754	0.118000	0.20060	0.109000	0.15417	0.091000	0.17302	0.462000	0.41574	GAG	C|0.363;G|0.637		0.776	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
PALM3	342979	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	14169968	14169968	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:14169968C>A	ENST00000340790.4	-	1	3	c.4G>T	c.(4-6)Gcg>Tcg	p.A2S		NM_001145028.1	NP_001138500.1	A6NDB9	PALM3_HUMAN	paralemmin 3	2					negative regulation of cytokine-mediated signaling pathway (GO:0001960)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)			endometrium(1)|kidney(2)|pancreas(1)|skin(1)	5						GAGCTCTCCGCCATGGGCCTG	0.637											OREG0025304	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A2S		.											.	PALM3-24	0			c.G4T						.						18.0	25.0	23.0					19																	14169968		692	1591	2283	SO:0001583	missense	342979	exon1			TCTCCGCCATGGG		CCDS46001.1	19p13.12	2010-04-15			ENSG00000187867	ENSG00000187867			33274	protein-coding gene	gene with protein product							Standard	NM_001145028		Approved		uc010xnk.1	A6NDB9		ENST00000340790.4:c.4G>T	19.37:g.14169968C>A	ENSP00000344996:p.Ala2Ser	84	0	693	111	7	NM_001145028	0	0	0	0	0		Missense_Mutation	SNP	ENST00000340790.4	37	CCDS46001.1	.	.	.	.	.	.	.	.	.	.	c	25.5	4.646866	0.87958	.	.	ENSG00000187867	ENST00000340790	T	0.32515	1.45	5.4	5.4	0.78164	.	.	.	.	.	T	0.49064	0.1535	L	0.46157	1.445	0.25920	N	0.983128	D	0.89917	1.0	D	0.74674	0.984	T	0.38628	-0.9652	9	0.56958	D	0.05	-4.2479	14.6471	0.68769	0.0:1.0:0.0:0.0	.	2	A6NDB9	PALM3_HUMAN	S	2	ENSP00000344996:A2S	ENSP00000344996:A2S	A	-	1	0	PALM3	14030968	0.997000	0.39634	1.000000	0.80357	0.982000	0.71751	2.736000	0.47385	2.534000	0.85438	0.491000	0.48974	GCG	.		0.637	PALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458540.1	NM_001145028	
ZNF333	84449	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	14815966	14815966	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:14815966G>T	ENST00000292530.6	+	6	498	c.407G>T	c.(406-408)tGg>tTg	p.W136L	ZNF333_ENST00000601134.1_Missense_Mutation_p.L76F|ZNF333_ENST00000540689.2_Missense_Mutation_p.W136L|ZNF333_ENST00000536363.1_Missense_Mutation_p.W27L	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GAGCCGCCTTGGTCTCTGGGA	0.617																																					p.W136L	NSCLC(60;75 1281 16985 25154 29885)	.											.	ZNF333-92	0			c.G407T						.						50.0	45.0	46.0					19																	14815966		2203	4300	6503	SO:0001583	missense	84449	exon6			CGCCTTGGTCTCT		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.407G>T	19.37:g.14815966G>T	ENSP00000292530:p.Trp136Leu	53	2		94	28	NM_032433	0	0	1	2	1	Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478031	0.26511	.	.	ENSG00000160961	ENST00000392987;ENST00000536363;ENST00000540689;ENST00000292530	T;T;T	0.05925	3.37;5.82;3.39	1.82	1.82	0.25136	.	.	.	.	.	T	0.10121	0.0248	L	0.27053	0.805	0.09310	N	1	D;D	0.76494	0.994;0.999	D;D	0.79108	0.931;0.992	T	0.32079	-0.9920	9	0.12766	T	0.61	.	7.1574	0.25645	0.0:0.0:1.0:0.0	.	136;136	Q96JL9;Q6P2E6	ZN333_HUMAN;.	L	136;27;136;136	ENSP00000439749:W27L;ENSP00000438130:W136L;ENSP00000292530:W136L	ENSP00000292530:W136L	W	+	2	0	ZNF333	14676966	0.044000	0.20184	0.143000	0.22291	0.066000	0.16364	0.728000	0.26013	1.361000	0.45981	0.591000	0.81541	TGG	.		0.617	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433	
AKAP8	10270	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	15482785	15482785	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:15482785G>T	ENST00000269701.2	-	7	1076	c.1016C>A	c.(1015-1017)tCa>tAa	p.S339*		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	339					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTCATCTCCTGAGCGGAAGTC	0.532																																					p.S339X	GBM(190;1671 2163 3274 27186 30476)	.											.	AKAP8-290	0			c.C1016A						.						81.0	73.0	76.0					19																	15482785		2203	4300	6503	SO:0001587	stop_gained	10270	exon7			TCTCCTGAGCGGA	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1016C>A	19.37:g.15482785G>T	ENSP00000269701:p.Ser339*	110	1		149	18	NM_005858	0	0	12	13	1		Nonsense_Mutation	SNP	ENST00000269701.2	37	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	G	39	7.515656	0.98332	.	.	ENSG00000105127	ENST00000269701;ENST00000537303	.	.	.	5.44	4.19	0.49359	.	0.368803	0.20210	N	0.096933	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-13.9319	12.047	0.53485	0.0974:0.0:0.9026:0.0	.	.	.	.	X	339;88	.	ENSP00000269701:S339X	S	-	2	0	AKAP8	15343785	0.995000	0.38212	0.944000	0.38274	0.908000	0.53690	3.671000	0.54576	2.549000	0.85964	0.563000	0.77884	TCA	.		0.532	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858	
AKAP8L	26993	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	15507978	15507978	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:15507978G>T	ENST00000397410.5	-	12	1649	c.1519C>A	c.(1519-1521)Cac>Aac	p.H507N	AKAP8L_ENST00000595879.1_5'Flank|AKAP8L_ENST00000595465.2_Missense_Mutation_p.H446N	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	507						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TTCCGGTTGTGATCCATGGTC	0.557																																					p.H507N		.											.	AKAP8L-1	0			c.C1519A						.						153.0	162.0	159.0					19																	15507978		2040	4194	6234	SO:0001583	missense	26993	exon12			GGTTGTGATCCAT	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1519C>A	19.37:g.15507978G>T	ENSP00000380557:p.His507Asn	141	0		188	22	NM_014371	0	0	174	203	29	B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.173924	0.78452	.	.	ENSG00000011243	ENST00000397410	T	0.63255	-0.03	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.78836	0.4346	M	0.71036	2.16	0.43863	D	0.996463	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	T	0.81226	-0.1029	10	0.87932	D	0	-24.4434	17.6561	0.88178	0.0:0.0:1.0:0.0	.	446;507	B4DJ74;Q9ULX6	.;AKP8L_HUMAN	N	507	ENSP00000380557:H507N	ENSP00000380557:H507N	H	-	1	0	AKAP8L	15368978	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	9.085000	0.94083	2.467000	0.83353	0.580000	0.79431	CAC	.		0.557	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371	
CYP4F12	66002	broad.mit.edu;ucsc.edu	37	19	15789193	15789193	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:15789193C>A	ENST00000550308.1	+	3	701	c.321C>A	c.(319-321)atC>atA	p.I107I	CYP4F12_ENST00000324632.10_Silent_p.I107I	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	107					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CTGACACCATCCGGTCTATCA	0.557																																					p.I107I		.											.	CYP4F12-95	0			c.C321A						.						124.0	120.0	122.0					19																	15789193		2196	4299	6495	SO:0001819	synonymous_variant	66002	exon3			CACCATCCGGTCT	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.321C>A	19.37:g.15789193C>A		126	2		188	19	NM_023944	0	0	0	0	0	E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	CCDS42517.1																																																																																			.		0.557	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9		
CYP4F2	8529	ucsc.edu;bcgsc.ca	37	19	16000335	16000335	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:16000335C>A	ENST00000221700.6	-	7	911	c.816G>T	c.(814-816)caG>caT	p.Q272H	CYP4F2_ENST00000011989.7_Missense_Mutation_p.Q123H	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCGCCGCTCCTGGATGACGG	0.562																																					p.Q272H		.											.	CYP4F2-92	0			c.G816T						.						96.0	92.0	94.0					19																	16000335		2203	4300	6503	SO:0001583	missense	8529	exon7			CCGCTCCTGGATG	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.816G>T	19.37:g.16000335C>A	ENSP00000221700:p.Gln272His	298	3		398	110	NM_001082	0	0	0	0	0		Missense_Mutation	SNP	ENST00000221700.6	37	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	14.33	2.503574	0.44558	.	.	ENSG00000186115	ENST00000221700;ENST00000392846;ENST00000011989	T;T	0.69685	-0.42;-0.42	2.72	0.524	0.17066	.	0.187629	0.35179	U	0.003395	T	0.74199	0.3685	M	0.71920	2.185	0.33062	D	0.534162	P;D	0.56035	0.767;0.974	P;D	0.67900	0.692;0.954	T	0.76313	-0.3005	10	0.66056	D	0.02	.	6.2677	0.20936	0.0:0.7102:0.0:0.2898	.	123;272	B4DV75;P78329	.;CP4F2_HUMAN	H	272;123;123	ENSP00000221700:Q272H;ENSP00000011989:Q123H	ENSP00000011989:Q123H	Q	-	3	2	CYP4F2	15861335	0.986000	0.35501	0.896000	0.35187	0.817000	0.46193	1.027000	0.30115	0.445000	0.26639	0.305000	0.20034	CAG	.		0.562	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082	
ANKLE1	126549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	17394631	17394631	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:17394631G>T	ENST00000394458.3	+	5	1334	c.1058G>T	c.(1057-1059)tGc>tTc	p.C353F	ANKLE1_ENST00000433424.2_Missense_Mutation_p.C407F|ANKLE1_ENST00000404085.1_Missense_Mutation_p.C375F|ANKLE1_ENST00000594072.1_Missense_Mutation_p.C342F|ANKLE1_ENST00000598347.1_Missense_Mutation_p.C353F	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	353										large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GTCGGCCCTTGCCGGCACCTG	0.587																																					p.C353F		.											.	.	0			c.G1058T						.						41.0	41.0	41.0					19																	17394631		2203	4300	6503	SO:0001583	missense	126549	exon5			GCCCTTGCCGGCA	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1058G>T	19.37:g.17394631G>T	ENSP00000377971:p.Cys353Phe	81	0		86	10	NM_152363	0	0	0	0	0	A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	CCDS12354.2	.	.	.	.	.	.	.	.	.	.	G	0.243	-1.012424	0.02095	.	.	ENSG00000160117	ENST00000404261;ENST00000433424;ENST00000404085;ENST00000394458;ENST00000438921	T;T;T	0.74106	-0.69;-0.81;-0.65	3.49	-3.4	0.04853	LEM-like domain (1);	3.798300	0.00832	N	0.001670	T	0.57315	0.2045	L	0.27053	0.805	0.09310	N	1	B;B;B;P	0.46277	0.099;0.053;0.012;0.875	B;B;B;B	0.38327	0.019;0.008;0.002;0.271	T	0.56481	-0.7972	10	0.54805	T	0.06	-28.4606	3.9677	0.09439	0.3565:0.3549:0.2886:0.0	.	353;339;353;342	E7ETZ9;Q8NAG6-1;Q8NAG6;A0JLW0	.;.;ANKL1_HUMAN;.	F	353;407;375;342;353	ENSP00000384753:C353F;ENSP00000394460:C407F;ENSP00000384008:C375F	ENSP00000377971:C342F	C	+	2	0	ANKLE1	17255631	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.176000	0.16782	-0.145000	0.11294	0.313000	0.20887	TGC	.		0.587	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363	
SLC27A1	376497	ucsc.edu;bcgsc.ca	37	19	17599870	17599870	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:17599870C>T	ENST00000252595.7	+	6	1037	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	SLC27A1_ENST00000598424.1_Missense_Mutation_p.R135C|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.R314C	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	314	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGTCGTCCTCCGCAAGAAATT	0.627																																					p.R314C		.											.	SLC27A1-226	0			c.C940T						.						71.0	69.0	69.0					19																	17599870		2203	4300	6503	SO:0001583	missense	376497	exon6			GTCCTCCGCAAGA	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.940C>T	19.37:g.17599870C>T	ENSP00000252595:p.Arg314Cys	212	10		332	151	NM_198580	0	0	2	7	5	A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945708	0.73672	.	.	ENSG00000130304	ENST00000442725;ENST00000252595;ENST00000300969	T;T	0.41400	1.0;1.0	4.25	3.09	0.35607	AMP-dependent synthetase/ligase (1);	0.120488	0.51477	D	0.000094	T	0.67664	0.2917	M	0.91038	3.17	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.996	T	0.73739	-0.3888	10	0.66056	D	0.02	.	10.1478	0.42774	0.2955:0.7045:0.0:0.0	.	135;314;314	B7Z662;Q6PCB7;B7Z3U1	.;S27A1_HUMAN;.	C	314;314;176	ENSP00000413424:R314C;ENSP00000252595:R314C	ENSP00000252595:R314C	R	+	1	0	SLC27A1	17460870	0.993000	0.37304	0.983000	0.44433	0.983000	0.72400	1.649000	0.37281	1.915000	0.55452	0.491000	0.48974	CGC	.		0.627	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580	
FAM129C	199786	broad.mit.edu	37	19	17648324	17648324	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:17648324G>T	ENST00000335393.4	+	6	798	c.660G>T	c.(658-660)ctG>ctT	p.L220L	FAM129C_ENST00000300971.2_Silent_p.L220L|FAM129C_ENST00000332386.5_Silent_p.L220L|FAM129C_ENST00000600871.1_Silent_p.L166L|FAM129C_ENST00000599124.1_Silent_p.L189L|FAM129C_ENST00000352727.3_Silent_p.L220L|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000595684.1_Silent_p.L220L|FAM129C_ENST00000601861.1_Silent_p.L189L|FAM129C_ENST00000599164.1_Silent_p.L189L	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	220										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GGCTGGCCCTGCAGGGTGGCA	0.637																																					p.L220L		.											.	FAM129C-90	0			c.G660T						.						37.0	40.0	39.0					19																	17648324		2203	4300	6503	SO:0001819	synonymous_variant	199786	exon6			GGCCCTGCAGGGT	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.660G>T	19.37:g.17648324G>T		20	0		37	4	NM_001098524	0	0	0	0	0	B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Silent	SNP	ENST00000335393.4	37	CCDS12362.1																																																																																			.		0.637	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544	
MAST3	23031	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	18241370	18241370	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:18241370G>T	ENST00000262811.6	+	13	1203	c.1203G>T	c.(1201-1203)caG>caT	p.Q401H		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	401	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCAACAAACAGAACTTGATCC	0.567																																					p.Q401H		.											.	MAST3-502	0			c.G1203T						.						90.0	83.0	85.0					19																	18241370		2203	4299	6502	SO:0001583	missense	23031	exon13			CAAACAGAACTTG	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1203G>T	19.37:g.18241370G>T	ENSP00000262811:p.Gln401His	196	1		232	25	NM_015016	0	0	2	2	0	Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.692930	0.48202	.	.	ENSG00000099308	ENST00000262811	T	0.65916	-0.18	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052153	0.85682	D	0.000000	T	0.56630	0.1998	L	0.32530	0.975	0.53688	D	0.999974	B	0.25105	0.118	B	0.31245	0.126	T	0.58973	-0.7541	10	0.66056	D	0.02	-37.8146	17.0135	0.86413	0.0:0.0:1.0:0.0	.	401	O60307	MAST3_HUMAN	H	401	ENSP00000262811:Q401H	ENSP00000262811:Q401H	Q	+	3	2	MAST3	18102370	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.808000	0.47963	2.244000	0.73946	0.561000	0.74099	CAG	.		0.567	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150	
ZNF676	163223	hgsc.bcm.edu;broad.mit.edu	37	19	22363229	22363229	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:22363229G>T	ENST00000397121.2	-	3	1607	c.1290C>A	c.(1288-1290)ttC>ttA	p.F430L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGGACCAGCTGAAGGCTTTGC	0.448																																					p.F430L		.											.	ZNF676-90	0			c.C1290A						.						72.0	71.0	71.0					19																	22363229		2047	4194	6241	SO:0001583	missense	163223	exon3			CCAGCTGAAGGCT	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1290C>A	19.37:g.22363229G>T	ENSP00000380310:p.Phe430Leu	29	0		60	8	NM_001001411	0	0	0	0	0	A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	10.21	1.287733	0.23478	.	.	ENSG00000196109	ENST00000397121	T	0.46063	0.88	0.81	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56949	0.2020	M	0.75447	2.3	0.09310	N	1	D	0.71674	0.998	D	0.77557	0.99	T	0.50516	-0.8819	9	0.87932	D	0	.	5.5212	0.16933	0.6007:0.0:0.3993:0.0	.	430	Q8N7Q3	ZN676_HUMAN	L	430	ENSP00000380310:F430L	ENSP00000380310:F430L	F	-	3	2	ZNF676	22155069	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-2.054000	0.01399	-1.122000	0.02945	-1.109000	0.02080	TTC	.		0.448	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
ZNF254	9534	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	24309378	24309378	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:24309378C>A	ENST00000357002.4	+	4	691	c.576C>A	c.(574-576)tgC>tgA	p.C192*	ZNF254_ENST00000342944.6_Nonsense_Mutation_p.C107*	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	192					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AATTATTTTGCATGCTTTCAC	0.289																																					p.C192X		.											.	ZNF254-90	0			c.C576A						.						56.0	63.0	60.0					19																	24309378		2203	4290	6493	SO:0001587	stop_gained	9534	exon4			ATTTTGCATGCTT	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.576C>A	19.37:g.24309378C>A	ENSP00000349494:p.Cys192*	66	0		111	10	NM_203282	0	0	7	8	1	A4QPC0|Q86XL7	Nonsense_Mutation	SNP	ENST00000357002.4	37	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561995	0.27915	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	6.2532	0.20859	0.0:0.9997:0.0:3.0E-4	.	.	.	.	X	107;192;192	.	ENSP00000445527:C107X	C	+	3	2	ZNF254	24101218	0.000000	0.05858	0.120000	0.21714	0.128000	0.20619	-0.704000	0.05058	0.308000	0.22923	0.313000	0.20887	TGC	.		0.289	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876	
LRP3	4037	hgsc.bcm.edu;broad.mit.edu	37	19	33696766	33696766	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:33696766G>T	ENST00000253193.7	+	5	1292	c.1090G>T	c.(1090-1092)Gtg>Ttg	p.V364L	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	364	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CACCTACCAGGTGAAGGGCTA	0.716																																					p.V364L		.											.	LRP3-92	0			c.G1090T						.						10.0	12.0	11.0					19																	33696766		2171	4227	6398	SO:0001583	missense	4037	exon5			TACCAGGTGAAGG	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1090G>T	19.37:g.33696766G>T	ENSP00000253193:p.Val364Leu	35	0		83	6	NM_002333	0	0	19	27	8	B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730308	0.69074	.	.	ENSG00000130881	ENST00000431491;ENST00000253193	T	0.50813	0.73	5.28	5.28	0.74379	CUB (4);	0.000000	0.85682	D	0.000000	T	0.70245	0.3202	M	0.79926	2.475	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.999	D;D;D	0.78314	0.987;0.978;0.991	T	0.69472	-0.5136	10	0.33940	T	0.23	-29.9854	17.8916	0.88874	0.0:0.0:1.0:0.0	.	238;364;282	C9J8W0;O75074;B7ZAJ9	.;LRP3_HUMAN;.	L	238;364	ENSP00000253193:V364L	ENSP00000253193:V364L	V	+	1	0	LRP3	38388606	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	9.812000	0.99227	2.487000	0.83934	0.305000	0.20034	GTG	.		0.716	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4		
FFAR3	2865	broad.mit.edu;mdanderson.org	37	19	35850698	35850698	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:35850698G>T	ENST00000327809.4	+	2	1107	c.906G>T	c.(904-906)caG>caT	p.Q302H	FFAR3_ENST00000594310.1_Missense_Mutation_p.Q302H	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	302					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GCCAGTGGCAGCAGGAGAGCA	0.592																																					p.Q302H	Esophageal Squamous(185;1742 2042 21963 24215 27871)	.											.	FFAR3-90	0			c.G906T						.						23.0	19.0	20.0					19																	35850698		2200	4274	6474	SO:0001583	missense	2865	exon2			GTGGCAGCAGGAG	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.906G>T	19.37:g.35850698G>T	ENSP00000328230:p.Gln302His	645	1		923	106	NM_005304	0	0	0	0	0	B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	G	6.941	0.543410	0.13250	.	.	ENSG00000185897	ENST00000327809	T	0.36878	1.23	4.23	1.36	0.22044	.	2.260690	0.02897	U	0.134829	T	0.23014	0.0556	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.25222	-1.0138	10	0.41790	T	0.15	-3.6319	9.3835	0.38329	0.0:0.0:0.4667:0.5333	.	302	O14843	FFAR3_HUMAN	H	302	ENSP00000328230:Q302H	ENSP00000328230:Q302H	Q	+	3	2	FFAR3	40542538	0.000000	0.05858	0.024000	0.17045	0.064000	0.16182	0.365000	0.20348	0.061000	0.16311	0.455000	0.32223	CAG	.		0.592	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304	
ZFP14	57677	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	36831144	36831144	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:36831144C>A	ENST00000270001.7	-	5	1699	c.1584G>T	c.(1582-1584)aaG>aaT	p.K528N		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CATTATGAATCTTCTGATGCT	0.353																																					p.K528N		.											.	ZFP14-91	0			c.G1584T						.						52.0	54.0	54.0					19																	36831144		2203	4300	6503	SO:0001583	missense	57677	exon5			ATGAATCTTCTGA	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.1584G>T	19.37:g.36831144C>A	ENSP00000270001:p.Lys528Asn	83	0		102	16	NM_020917	0	0	4	4	0	A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	c	11.67	1.709195	0.30322	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.08720	3.06	3.37	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000275	T	0.10508	0.0257	L	0.35593	1.075	0.80722	D	1	P;P	0.49358	0.923;0.858	P;P	0.54499	0.754;0.517	T	0.10823	-1.0613	10	0.72032	D	0.01	.	5.2929	0.15737	0.0:0.3873:0.0:0.6127	.	528;528	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	N	528	ENSP00000270001:K528N	ENSP00000270001:K528N	K	-	3	2	ZFP14	41522984	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.098000	0.11024	0.233000	0.21120	0.551000	0.68910	AAG	.		0.353	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917	
WDR87	83889	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	38378662	38378662	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:38378662C>A	ENST00000303868.5	-	6	5756	c.5532G>T	c.(5530-5532)aaG>aaT	p.K1844N	WDR87_ENST00000447313.2_Missense_Mutation_p.K1883N	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1844	Glu-rich.									NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						GGGCCAGATTCTTCTTTTCCT	0.408																																					p.K1844N		.											.	.	0			c.G5532T						.						208.0	145.0	164.0					19																	38378662		692	1591	2283	SO:0001583	missense	83889	exon6			CAGATTCTTCTTT	AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.5532G>T	19.37:g.38378662C>A	ENSP00000368025:p.Lys1844Asn	81	0		104	23	NM_031951	0	0	0	0	0	Q9BWV9	Missense_Mutation	SNP	ENST00000303868.5	37	CCDS46063.1	.	.	.	.	.	.	.	.	.	.	C	6.757	0.508524	0.12883	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.22945	1.93;1.93	4.76	0.812	0.18744	.	.	.	.	.	T	0.13372	0.0324	N	0.14661	0.345	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.003	T	0.26538	-1.0100	9	0.34782	T	0.22	.	6.8705	0.24119	0.0:0.6203:0.1992:0.1805	.	1844;1883	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	N	1883;1844	ENSP00000405012:K1883N;ENSP00000368025:K1844N	ENSP00000368025:K1844N	K	-	3	2	WDR87	43070502	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.598000	0.24074	0.374000	0.24650	0.542000	0.68232	AAG	.		0.408	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314628.2	XM_940478	
SIPA1L3	23094	hgsc.bcm.edu	37	19	38573333	38573333	+	Silent	SNP	C	C	T	rs61729132	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:38573333C>T	ENST00000222345.6	+	3	1637	c.1128C>T	c.(1126-1128)tcC>tcT	p.S376S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	376					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGCCGCTTCCGCCGCCTCGG	0.687													C|||	5	0.000998403	0.0023	0.0029	5008	,	,		13047	0.0		0.0	False		,,,				2504	0.0				p.S376S		.											.	SIPA1L3-91	0			c.C1128T						.	C		10,4390		0,10,2190	20.0	21.0	21.0		1128	-3.5	0.6	19	dbSNP_129	21	0,8592		0,0,4296	no	coding-synonymous	SIPA1L3	NM_015073.1		0,10,6486	TT,TC,CC		0.0,0.2273,0.077		376/1782	38573333	10,12982	2200	4296	6496	SO:0001819	synonymous_variant	23094	exon3			CGCTTCCGCCGCC	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1128C>T	19.37:g.38573333C>T		3	0		65	35	NM_015073	0	0	1	1	0	Q2TV87	Silent	SNP	ENST00000222345.6	37	CCDS33007.1																																																																																			C|0.998;T|0.002		0.687	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	
CATSPERG	57828	bcgsc.ca;mdanderson.org	37	19	38858328	38858328	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:38858328C>A	ENST00000409235.3	+	25	2957	c.2842C>A	c.(2842-2844)Ctg>Atg	p.L948M	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.L908M	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	948					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TAGCTATGTTCTGCTGGTGGT	0.602																																					p.L948M		.											.	CATSPERG-92	0			c.C2842A						.						264.0	285.0	278.0					19																	38858328		2203	4300	6503	SO:0001583	missense	57828	exon25			TATGTTCTGCTGG	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2842C>A	19.37:g.38858328C>A	ENSP00000386962:p.Leu948Met	101	4		188	78	NM_021185	0	0	0	0	0	A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762301	0.31228	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.35048	1.33;1.33	3.99	1.71	0.24356	.	0.000000	0.32563	N	0.005938	T	0.40670	0.1126	L	0.36672	1.1	0.80722	D	1	P;D	0.76494	0.94;0.999	P;D	0.66979	0.638;0.948	T	0.28933	-1.0028	10	0.72032	D	0.01	-11.9421	4.7787	0.13192	0.2117:0.6716:0.0:0.1167	.	948;908	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	M	908;948;948	ENSP00000387057:L908M;ENSP00000386962:L948M	ENSP00000386962:L948M	L	+	1	2	CATSPERG	43550168	0.641000	0.27251	0.936000	0.37596	0.025000	0.11179	0.872000	0.28037	0.830000	0.34757	0.484000	0.47621	CTG	.		0.602	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185	
FBXO17	115290	hgsc.bcm.edu	37	19	39440918	39440918	+	Silent	SNP	T	T	C	rs2304117	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:39440918T>C	ENST00000292852.4	-	2	383	c.42A>G	c.(40-42)ccA>ccG	p.P14P	SARS2_ENST00000448145.2_5'Flank|CTC-360G5.8_ENST00000599996.1_5'Flank|FBXO17_ENST00000595329.1_Silent_p.P14P	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	14						SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCCAGGGATGGGTCCGCCG	0.731													c|||	2378	0.47484	0.3336	0.3746	5008	,	,		11867	0.6796		0.4195	False		,,,				2504	0.5828				p.P23P		.											.	FBXO17-226	0			c.A69G						.		,	1052,2556		213,626,965	3.0	4.0	3.0		42,69	0.5	0.0	19	dbSNP_100	3	2265,4819		496,1273,1773	no	coding-synonymous,coding-synonymous	FBXO17	NM_024907.5,NM_148169.1	,	709,1899,2738	CC,CT,TT		31.9735,29.1574,31.0232	,	14/279,23/288	39440918	3317,7375	1804	3542	5346	SO:0001819	synonymous_variant	115290	exon2			CAGGGATGGGTCC	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"""F-boxes /  ""other"""""	18754	protein-coding gene	gene with protein product	"""F-box only protein 26"""	609094	"""F-box only protein 17"""	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.42A>G	19.37:g.39440918T>C		0	0		20	9	NM_148169	0	0	0	0	0	Q96LQ4	Silent	SNP	ENST00000292852.4	37	CCDS12526.1																																																																																			T|0.545;C|0.455		0.731	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907	
CYP2B6	1555	broad.mit.edu;ucsc.edu	37	19	41518259	41518259	+	Missense_Mutation	SNP	C	C	A	rs138030127	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:41518259C>A	ENST00000324071.4	+	7	1028	c.1021C>A	c.(1021-1023)Cat>Aat	p.H341N	CYP2B6_ENST00000593831.1_Missense_Mutation_p.H105N|CYP2B6_ENST00000330446.5_Missense_Mutation_p.H141N	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	341					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	TCCAGAGCTTCATGACCGAGC	0.478																																					p.H341N		.											.	CYP2B6-92	0			c.C1021A						.						99.0	78.0	85.0					19																	41518259		2203	4300	6503	SO:0001583	missense	1555	exon7			GAGCTTCATGACC	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.1021C>A	19.37:g.41518259C>A	ENSP00000324648:p.His341Asn	74	2		126	16	NM_000767	0	0	0	0	0	B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	4.596	0.110686	0.08780	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	T;T	0.67171	5.15;-0.25	4.3	0.833	0.18875	.	0.246095	0.39615	N	0.001305	T	0.32615	0.0835	N	0.01493	-0.835	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30909	-0.9962	10	0.72032	D	0.01	.	5.1785	0.15148	0.2209:0.1807:0.5984:0.0	.	141;341	B4DWP3;P20813	.;CP2B6_HUMAN	N	341;141	ENSP00000324648:H341N;ENSP00000330650:H141N	ENSP00000324648:H341N	H	+	1	0	CYP2B6	46210099	0.045000	0.20229	0.007000	0.13788	0.116000	0.19942	2.032000	0.41127	0.457000	0.26962	-0.759000	0.03464	CAT	C|0.999;G|0.001		0.478	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767	
ARHGEF1	9138	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	42410903	42410903	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:42410903G>T	ENST00000354532.3	+	28	2852	c.2704G>T	c.(2704-2706)Ggg>Tgg	p.G902W	ARHGEF1_ENST00000599846.1_Missense_Mutation_p.G958W|CTD-2575K13.6_ENST00000597630.1_RNA|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.G869W|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.G917W|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.W829L	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	902					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GTCTCAGCTTGGGGGGAACTC	0.667																																					p.G917W		.											.	ARHGEF1-293	0			c.G2749T						.						38.0	35.0	36.0					19																	42410903		2203	4300	6503	SO:0001583	missense	9138	exon28			CAGCTTGGGGGGA	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2704G>T	19.37:g.42410903G>T	ENSP00000346532:p.Gly902Trp	79	0		137	31	NM_199002	0	0	30	37	7	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	CCDS12591.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.36|15.36	2.809744|2.809744	0.50421|0.50421	.|.	.|.	ENSG00000076928|ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665|ENST00000378152	T;T;T|T	0.70869|0.67523	-0.51;-0.45;-0.52|-0.27	4.09|4.09	-0.024|-0.024	0.13941|0.13941	.|.	.|2.190990	.|0.02215	.|N	.|0.063485	T|T	0.50103|0.50103	0.1596|0.1596	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	D;D;D|B	0.61697|0.17667	0.99;0.99;0.983|0.023	P;P;P|B	0.59171|0.11329	0.797;0.853;0.632|0.006	T|T	0.42447|0.42447	-0.9451|-0.9451	9|10	0.87932|0.62326	D|D	0|0.03	7.7225|7.7225	2.8802|2.8802	0.05645|0.05645	0.3269:0.2396:0.4335:0.0|0.3269:0.2396:0.4335:0.0	.|.	917;869;902|829	Q92888-3;Q92888-2;Q92888|Q6NX52	.;.;ARHG1_HUMAN|.	W|L	902;869;917|829	ENSP00000346532:G902W;ENSP00000344429:G869W;ENSP00000337261:G917W|ENSP00000367394:W829L	ENSP00000337261:G917W|ENSP00000367394:W829L	G|W	+|+	1|2	0|0	ARHGEF1|ARHGEF1	47102743|47102743	0.563000|0.563000	0.26594|0.26594	0.422000|0.422000	0.26621|0.26621	0.927000|0.927000	0.56198|0.56198	0.784000|0.784000	0.26816|0.26816	0.285000|0.285000	0.22329|0.22329	0.485000|0.485000	0.47835|0.47835	GGG|TGG	.		0.667	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002	
CKM	1158	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	45822926	45822926	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:45822926G>T	ENST00000221476.3	-	2	220	c.46C>A	c.(46-48)Cct>Act	p.P16T		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	16	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	TCCTCCTCAGGCTTGTAATTC	0.522																																					p.P16T		.											.	CKM-91	0			c.C46A						.						283.0	239.0	254.0					19																	45822926		2203	4300	6503	SO:0001583	missense	1158	exon2			CCTCAGGCTTGTA	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.46C>A	19.37:g.45822926G>T	ENSP00000221476:p.Pro16Thr	283	1		372	106	NM_001824	0	0	0	0	0	Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	G	8.348	0.830321	0.16749	.	.	ENSG00000104879	ENST00000221476	T	0.63255	-0.03	4.69	-3.81	0.04294	ATP:guanido phosphotransferase, N-terminal (3);	0.437004	0.24759	N	0.035839	T	0.52256	0.1723	M	0.78456	2.415	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.42716	-0.9435	10	0.33940	T	0.23	-0.8011	5.2557	0.15546	0.4199:0.2584:0.3217:0.0	.	16	P06732	KCRM_HUMAN	T	16	ENSP00000221476:P16T	ENSP00000221476:P16T	P	-	1	0	CKM	50514766	0.000000	0.05858	0.086000	0.20670	0.599000	0.36880	-0.228000	0.09114	-0.793000	0.04475	-0.165000	0.13383	CCT	.		0.522	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1		
PTGIR	5739	hgsc.bcm.edu	37	19	47127324	47127324	+	Silent	SNP	C	C	G	rs2229128	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:47127324C>G	ENST00000291294.2	-	2	292	c.159G>C	c.(157-159)gtG>gtC	p.V53V	PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000596260.1_Silent_p.V53V|PTGIR_ENST00000598865.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	53					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	CCAGTCCGGTCACCAGCACCG	0.731													G|||	1139	0.227436	0.1362	0.2133	5008	,	,		13968	0.3313		0.2465	False		,,,				2504	0.2342				p.V53V		.											.	PTGIR-522	0			c.G159C						.	G		523,3103		62,399,1352	3.0	5.0	5.0		159	2.2	1.0	19	dbSNP_98	5	1678,5498		231,1216,2141	no	coding-synonymous	PTGIR	NM_000960.3		293,1615,3493	GG,GC,CC		23.3835,14.4236,20.3759		53/387	47127324	2201,8601	1813	3588	5401	SO:0001819	synonymous_variant	5739	exon2			TCCGGTCACCAGC		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"""GPCR / Class A : Prostanoid receptors"""	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.159G>C	19.37:g.47127324C>G		1	0		16	16	NM_000960	0	0	0	2	2		Silent	SNP	ENST00000291294.2	37	CCDS12686.1																																																																																			C|0.254;G|0.746		0.731	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1		
RASIP1	54922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	49227597	49227597	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:49227597G>T	ENST00000222145.4	-	10	2745	c.2541C>A	c.(2539-2541)ctC>ctA	p.L847L		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	847	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GAGTCACCTTGAGCAGGGAAG	0.582																																					p.L847L		.											.	RASIP1-228	0			c.C2541A						.						69.0	63.0	65.0					19																	49227597		2203	4300	6503	SO:0001819	synonymous_variant	54922	exon10			CACCTTGAGCAGG	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2541C>A	19.37:g.49227597G>T		137	0		189	51	NM_017805	0	0	0	1	1	Q6U676	Silent	SNP	ENST00000222145.4	37	CCDS12731.1																																																																																			.		0.582	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805	
KCNA7	3743	hgsc.bcm.edu	37	19	49575618	49575618	+	Silent	SNP	A	A	G	rs71352730	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:49575618A>G	ENST00000221444.1	-	1	580	c.225T>C	c.(223-225)ggT>ggC	p.G75G		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	75					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	GCAGCCGCCCACCGGACTGGT	0.731													a|||	708	0.141374	0.2837	0.1398	5008	,	,		7174	0.0486		0.0875	False		,,,				2504	0.1012				p.G75G	Colon(74;686 1235 3793 23366 48562)	.											.	KCNA7-90	0			c.T225C						.			790,3356		66,658,1349	9.0	12.0	11.0		225	-0.4	1.0	19	dbSNP_130	11	613,7491		29,555,3468	no	coding-synonymous	KCNA7	NM_031886.2		95,1213,4817	GG,GA,AA		7.5642,19.0545,11.4531		75/457	49575618	1403,10847	2073	4052	6125	SO:0001819	synonymous_variant	3743	exon1			CCGCCCACCGGAC	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.225T>C	19.37:g.49575618A>G		4	0		32	14	NM_031886	0	0	0	0	0	A1KYX7|Q9BYS4	Silent	SNP	ENST00000221444.1	37	CCDS12755.1																																																																																			A|0.868;G|0.132		0.731	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886	
SLC6A16	28968	broad.mit.edu;bcgsc.ca	37	19	49793931	49793931	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:49793931G>T	ENST00000335875.4	-	11	2113	c.1872C>A	c.(1870-1872)atC>atA	p.I624I	SLC6A16_ENST00000454748.3_Silent_p.I624I	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	624					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TCACAAAGATGATTAGCAGCA	0.542																																					p.I624I		.											.	SLC6A16-94	0			c.C1872A						.						49.0	49.0	49.0					19																	49793931		1988	4169	6157	SO:0001819	synonymous_variant	28968	exon11			AAAGATGATTAGC	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1872C>A	19.37:g.49793931G>T		161	1		193	14	NM_014037	0	0	0	0	0	Q8IYV4|Q9Y5I9	Silent	SNP	ENST00000335875.4	37	CCDS42590.1																																																																																			.		0.542	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037	
SCAF1	58506	broad.mit.edu;bcgsc.ca	37	19	50157655	50157655	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:50157655G>T	ENST00000360565.3	+	8	3490	c.3366G>T	c.(3364-3366)gcG>gcT	p.A1122A		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1122					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CGAGCCGAGCGAAGGCCCAGG	0.597																																					p.A1122A		.											.	SCAF1-68	0			c.G3366T						.						29.0	28.0	28.0					19																	50157655		2202	4298	6500	SO:0001819	synonymous_variant	58506	exon8			CCGAGCGAAGGCC	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3366G>T	19.37:g.50157655G>T		176	0		230	10	NM_021228	1	0	104	110	5	Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	ENST00000360565.3	37	CCDS33074.1																																																																																			.		0.597	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228	
ASPDH	554235	hgsc.bcm.edu	37	19	51015404	51015404	+	Missense_Mutation	SNP	T	T	C	rs12977172	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:51015404T>C	ENST00000389208.4	-	6	858	c.797A>G	c.(796-798)cAg>cGg	p.Q266R	JOSD2_ENST00000601423.1_5'Flank|ASPDH_ENST00000597030.1_5'Flank|JOSD2_ENST00000391815.3_5'Flank|JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000595669.1_5'Flank|ASPDH_ENST00000376916.3_Missense_Mutation_p.Q161R	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	266			Q -> R (in dbSNP:rs12977172). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.		NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						CAGGAGGCTCTGCCAGAAGGC	0.706													C|||	3986	0.795927	0.9728	0.7781	5008	,	,		10864	0.7143		0.6849	False		,,,				2504	0.7679				p.Q266R		.											.	ASPDH-90	0			c.A797G						.	C	ARG/GLN,ARG/GLN	3799,331		1771,257,37	6.0	9.0	8.0		482,797	1.9	1.0	19	dbSNP_121	8	5527,2593		1919,1689,452	no	missense,missense	ASPDH	NM_001024656.2,NM_001114598.1	43,43	3690,1946,489	CC,CT,TT		31.9335,8.0145,23.8694	benign,benign	161/179,266/284	51015404	9326,2924	2065	4060	6125	SO:0001583	missense	554235	exon6			AGGCTCTGCCAGA		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.797A>G	19.37:g.51015404T>C	ENSP00000373860:p.Gln266Arg	0	0		19	19	NM_001114598	0	0	0	0	0	Q6NZ37	Missense_Mutation	SNP	ENST00000389208.4	37	CCDS46153.1	1681	0.7696886446886447	481	0.9776422764227642	273	0.7541436464088398	412	0.7202797202797203	515	0.679419525065963	C	3.606	-0.080592	0.07141	0.919855	0.680665	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.39997	1.05;1.05	2.95	1.88	0.25563	Aspartate dehydrogenase (1);	1.158050	0.06646	N	0.761872	T	0.00012	0.0000	N	0.01705	-0.755	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30794	-0.9966	9	0.06099	T	0.92	-1.7519	4.8935	0.13738	0.0:0.6813:0.0:0.3187	rs12977172	266;161	A6ND91;A6ND91-2	ASPD_HUMAN;.	R	161;266	ENSP00000366114:Q161R;ENSP00000373860:Q266R	ENSP00000366114:Q161R	Q	-	2	0	ASPDH	55707216	0.916000	0.31088	0.989000	0.46669	0.553000	0.35397	0.171000	0.16685	0.125000	0.18397	-0.355000	0.07637	CAG	T|0.228;C|0.772		0.706	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464861.1	NM_001024656	
VSIG10L	147645	broad.mit.edu	37	19	51844464	51844464	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:51844464C>A	ENST00000335624.4	-	2	837	c.838G>T	c.(838-840)Gag>Tag	p.E280*	CTD-2616J11.16_ENST00000601148.1_RNA|CTD-2616J11.16_ENST00000594311.1_RNA	NM_001163922.1	NP_001157394.1	Q86VR7	VS10L_HUMAN	V-set and immunoglobulin domain containing 10 like	280						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)	4						CGGATGACCTCAGCCGTGTAG	0.677																																					p.E280X		.											.	.	0			c.G838T						.						17.0	25.0	22.0					19																	51844464		691	1590	2281	SO:0001587	stop_gained	147645	exon2			TGACCTCAGCCGT		CCDS54300.1	19q13.41	2013-01-11				ENSG00000186806		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27111	protein-coding gene	gene with protein product						12477932	Standard	NM_001163922		Approved		uc002pwf.3	Q86VR7		ENST00000335624.4:c.838G>T	19.37:g.51844464C>A	ENSP00000335623:p.Glu280*	86	0		143	4	NM_001163922	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000335624.4	37	CCDS54300.1	.	.	.	.	.	.	.	.	.	.	C	35	5.430911	0.96150	.	.	ENSG00000186806	ENST00000335624	.	.	.	3.73	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	10.869	0.46872	0.0:1.0:0.0:0.0	.	.	.	.	X	280	.	ENSP00000335623:E280X	E	-	1	0	VSIG10L	56536276	0.955000	0.32602	0.796000	0.32109	0.621000	0.37620	2.246000	0.43142	1.894000	0.54839	0.313000	0.20887	GAG	.		0.677	VSIG10L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464535.1	NM_001163922	
NKG7	4818	hgsc.bcm.edu;broad.mit.edu	37	19	51875493	51875493	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:51875493G>T	ENST00000221978.5	-	2	405	c.226C>A	c.(226-228)Ctg>Atg	p.L76M	NKG7_ENST00000600427.1_Intron|NKG7_ENST00000595217.1_Intron	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	76						integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GACAGGACCAGGAAGCTCACG	0.607																																					p.L76M		.											.	NKG7-90	0			c.C226A						.						142.0	134.0	137.0					19																	51875493		2203	4300	6503	SO:0001583	missense	4818	exon2			GGACCAGGAAGCT		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"""granule membrane protein 17"""	606008	"""natural killer cell group 7 sequence"""			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.226C>A	19.37:g.51875493G>T	ENSP00000221978:p.Leu76Met	80	0		98	5	NM_005601	0	0	1	1	0		Missense_Mutation	SNP	ENST00000221978.5	37	CCDS12830.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206181	0.58343	.	.	ENSG00000105374	ENST00000221978	T	0.07567	3.18	5.12	4.08	0.47627	.	0.206655	0.24490	N	0.038070	T	0.16300	0.0392	M	0.66939	2.045	0.27595	N	0.94915	D	0.56521	0.976	P	0.51918	0.684	T	0.04386	-1.0955	10	0.34782	T	0.22	-12.338	10.9192	0.47154	0.0:0.0:0.8131:0.1869	.	76	Q16617	NKG7_HUMAN	M	76	ENSP00000221978:L76M	ENSP00000221978:L76M	L	-	1	2	NKG7	56567305	0.914000	0.31030	0.962000	0.40283	0.696000	0.40369	2.240000	0.43088	1.380000	0.46344	0.491000	0.48974	CTG	.		0.607	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	NM_005601	
ZNF880	400713	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	52888417	52888417	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:52888417C>A	ENST00000422689.2	+	4	1599	c.1584C>A	c.(1582-1584)gtC>gtA	p.V528V		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	528					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GTGGCAAGGTCTTCAGCCACA	0.393																																					p.V528V		.											.	.	0			c.C1584A						.						60.0	55.0	57.0					19																	52888417		692	1591	2283	SO:0001819	synonymous_variant	400713	exon4			CAAGGTCTTCAGC	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.1584C>A	19.37:g.52888417C>A		146	0		180	17	NM_001145434	0	0	21	23	2	B4DNA6	Silent	SNP	ENST00000422689.2	37	CCDS46164.1																																																																																			.		0.393	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434	
CNOT3	4849	ucsc.edu;bcgsc.ca	37	19	54656063	54656063	+	Splice_Site	SNP	G	G	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:54656063G>A	ENST00000406403.1	+	13	3308		c.e13+1		CNOT3_ENST00000358389.3_Splice_Site|CNOT3_ENST00000221232.5_Splice_Site|CNOT3_ENST00000496327.1_Splice_Site			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACCGAGCGAGGTGAGGGACCC	0.672																																					.		.											.	CNOT3-93	0			c.1705+1G>A						.						62.0	63.0	62.0					19																	54656063		2203	4300	6503	SO:0001630	splice_region_variant	4849	exon14			AGCGAGGTGAGGG	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1705+1G>A	19.37:g.54656063G>A		167	3		268	33	NM_014516	0	0	1	3	2	Q9NZN7|Q9UF76	Splice_Site	SNP	ENST00000406403.1	37	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019095	0.75275	.	.	ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403;ENST00000457463	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7333	0.77822	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNOT3	59347875	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.376000	0.90138	2.056000	0.61249	0.655000	0.94253	.	.		0.672	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516	Intron
RPS9	6203	broad.mit.edu	37	19	54705408	54705408	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:54705408G>T	ENST00000302907.4	+	3	323	c.151G>T	c.(151-153)Gcc>Tcc	p.A51S	RPS9_ENST00000391753.2_Missense_Mutation_p.A51S|RPS9_ENST00000441429.1_Missense_Mutation_p.A51S|RPS9_ENST00000402367.1_Missense_Mutation_p.A51S|RPS9_ENST00000391751.3_Missense_Mutation_p.A51S|AC012314.20_ENST00000426213.1_RNA|RPS9_ENST00000391752.1_Missense_Mutation_p.A51S	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	51					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		ATTTACCCTGGCCAAGATCCG	0.602																																					p.A51S		.											.	RPS9-153	0			c.G151T						.						38.0	36.0	37.0					19																	54705408		2203	4300	6503	SO:0001583	missense	6203	exon3			ACCCTGGCCAAGA	U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889		"""S ribosomal proteins"""	10442	protein-coding gene	gene with protein product	"""40S ribosomal protein S9"""	603631				7772601, 9582194	Standard	XM_005259135		Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.151G>T	19.37:g.54705408G>T	ENSP00000302896:p.Ala51Ser	56	0		107	4	NM_001013	1	2	1903	1906	0	A9C4C1|Q4QRK7|Q9BVZ0	Missense_Mutation	SNP	ENST00000302907.4	37	CCDS12884.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041628	0.55003	.	.	ENSG00000170889	ENST00000302907;ENST00000391752;ENST00000402367;ENST00000391751;ENST00000391753;ENST00000441429	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	4.51	4.51	0.55191	Ribosomal protein S4/S9, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.33147	0.0853	N	0.16130	0.375	0.80722	D	1	B;B;P;B	0.39551	0.005;0.005;0.678;0.005	B;B;P;B	0.48815	0.04;0.072;0.591;0.055	T	0.04752	-1.0929	10	0.05525	T	0.97	-25.8805	15.5125	0.75795	0.0:0.0:1.0:0.0	.	51;51;51;51	B5MCT8;C9JM19;A8MXK4;P46781	.;.;.;RS9_HUMAN	S	51	ENSP00000302896:A51S;ENSP00000375632:A51S;ENSP00000383937:A51S;ENSP00000375631:A51S;ENSP00000375633:A51S;ENSP00000414314:A51S	ENSP00000302896:A51S	A	+	1	0	RPS9	59397220	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.874000	0.92363	2.459000	0.83118	0.462000	0.41574	GCC	.		0.602	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142834.3	NM_001013	
LILRA3	11026	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	54803031	54803031	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:54803031C>A	ENST00000251390.3	-	4	737	c.646G>T	c.(646-648)Ggg>Tgg	p.G216W	LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000391745.1_Missense_Mutation_p.G233W	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	216	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACCAGGAGCCCCAGGAGATCA	0.627																																					p.G216W		.											.	LILRA3-91	0			c.G646T						.						96.0	87.0	90.0					19																	54803031		2194	4159	6353	SO:0001583	missense	11026	exon4			GGAGCCCCAGGAG	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.646G>T	19.37:g.54803031C>A	ENSP00000251390:p.Gly216Trp	174	1		228	29	NM_006865	0	0	2	2	0	J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799216	0.31869	.	.	ENSG00000170866	ENST00000251390;ENST00000391745	T;T	0.00730	5.77;5.77	2.21	-0.302	0.12796	Immunoglobulin-like fold (1);	0.537818	0.16855	N	0.196789	T	0.00724	0.0024	N	0.03608	-0.345	0.09310	N	1	P	0.42556	0.783	P	0.50378	0.639	T	0.55289	-0.8164	10	0.87932	D	0	.	7.7462	0.28871	0.0:0.4817:0.5183:0.0	.	216	Q8N6C8	LIRA3_HUMAN	W	216;233	ENSP00000251390:G216W;ENSP00000375625:G233W	ENSP00000251390:G216W	G	-	1	0	LILRA3	59494843	0.000000	0.05858	0.000000	0.03702	0.228000	0.25075	-0.353000	0.07691	0.031000	0.15407	0.586000	0.80456	GGG	.		0.627	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1		
SYT5	6861	hgsc.bcm.edu	37	19	55684927	55684927	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:55684927G>T	ENST00000354308.3	-	9	1455	c.1086C>A	c.(1084-1086)gcC>gcA	p.A362A	SYT5_ENST00000592935.1_5'Flank|SYT5_ENST00000590851.1_Silent_p.A358A|SYT5_ENST00000537500.1_Silent_p.A362A|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	362					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GCCGCGGGTTGGCCAGCATGT	0.746																																					p.A362A		.											.	SYT5-90	0			c.C1086A						.						4.0	5.0	5.0					19																	55684927		1922	3697	5619	SO:0001819	synonymous_variant	6861	exon9			CGGGTTGGCCAGC	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.1086C>A	19.37:g.55684927G>T		1	0		14	5	NM_003180	0	0	0	0	0	B3KWJ8|B7Z300|Q86X72	Silent	SNP	ENST00000354308.3	37	CCDS12919.1																																																																																			.		0.746	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180	
SSC5D	284297	broad.mit.edu;bcgsc.ca	37	19	56024505	56024505	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:56024505C>A	ENST00000389623.6	+	13	2936	c.2913C>A	c.(2911-2913)ggC>ggA	p.G971G		NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	971	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						GGAGCCCAGGCAGTCCTCCAA	0.607																																					p.G971G		.											.	.	0			c.C2913A						.						34.0	37.0	36.0					19																	56024505		692	1591	2283	SO:0001819	synonymous_variant	284297	exon13			CCCAGGCAGTCCT		CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.2913C>A	19.37:g.56024505C>A		101	1		204	12	NM_001144950	0	0	0	0	0	B5MDQ5|C7S7T9|C7S7U0|K7EP70	Silent	SNP	ENST00000389623.6	37	CCDS46196.1																																																																																			.		0.607	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453345.2	XM_001718392	
NLRP13	126204	broad.mit.edu	37	19	56410249	56410249	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:56410249G>T	ENST00000342929.3	-	10	2843	c.2844C>A	c.(2842-2844)ctC>ctA	p.L948L	NLRP13_ENST00000588751.1_Silent_p.L948L	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	948							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GATTATGGCTGAGGGCATTAG	0.438																																					p.L948L		.											.	NLRP13-211	0			c.C2844A						.						144.0	127.0	133.0					19																	56410249		2203	4300	6503	SO:0001819	synonymous_variant	126204	exon10			ATGGCTGAGGGCA	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2844C>A	19.37:g.56410249G>T		70	0		125	5	NM_176810	0	0	0	0	0	Q7RTR5	Silent	SNP	ENST00000342929.3	37	CCDS33119.1																																																																																			.		0.438	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810	
ZNF787	126208	hgsc.bcm.edu	37	19	56599438	56599440	+	In_Frame_Del	DEL	TCG	TCG	-	rs5828672|rs71696054	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	TCG	TCG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:56599438_56599440delTCG	ENST00000270459.3	-	3	1219_1221	c.1101_1103delCGA	c.(1099-1104)gacgag>gag	p.D367del		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GCCCGCGGCCTCGTCGTCGTCGT	0.778														4509	0.900359	0.9939	0.732	5008	,	,		3238	0.7252		0.9821	False		,,,				2504	0.9898				p.367_368del		.											.	ZNF787-69	0			c.1101_1103del						.																																			SO:0001651	inframe_deletion	126208	exon3			GCGGCCTCGTCGT	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.1101_1103delCGA	19.37:g.56599447_56599449delTCG	ENSP00000270459:p.Asp367del	0	0		15	12	NM_001002836	0	0	0	0	0	O00455	In_Frame_Del	DEL	ENST00000270459.3	37	CCDS42634.1																																																																																			.		0.778	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836	
ZNF667	63934	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	56952598	56952598	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:56952598C>A	ENST00000504904.3	-	7	2485	c.1766G>T	c.(1765-1767)gGg>gTg	p.G589V	ZNF667_ENST00000342634.3_Missense_Mutation_p.G717V|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.G589V			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ATATGCCTTCCCACATTTACT	0.383																																					p.G589V		.											.	ZNF667-91	0			c.G1766T						.						121.0	116.0	118.0					19																	56952598		2203	4300	6503	SO:0001583	missense	63934	exon5			GCCTTCCCACATT		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1766G>T	19.37:g.56952598C>A	ENSP00000439402:p.Gly589Val	65	0		111	27	NM_022103	0	0	7	13	6	B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348114	0.41599	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518;ENST00000360227	T;T;T	0.66460	-0.21;-0.21;-0.21	4.98	1.65	0.23941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.165528	0.28889	N	0.013816	T	0.81692	0.4876	M	0.94063	3.49	0.54753	D	0.99998	D;D	0.69078	0.997;0.997	D;P	0.65140	0.932;0.902	T	0.81562	-0.0876	10	0.87932	D	0	-3.1773	7.1238	0.25461	0.0:0.7127:0.0:0.2873	.	717;589	E7EPS0;Q5HYK9	.;ZN667_HUMAN	V	717;589;589;371;304	ENSP00000344699:G717V;ENSP00000439402:G589V;ENSP00000292069:G589V	ENSP00000292069:G589V	G	-	2	0	ZNF667	61644410	0.089000	0.21612	0.713000	0.30519	0.488000	0.33401	1.504000	0.35726	0.698000	0.31739	-0.251000	0.11542	GGG	.		0.383	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103	
ZNF835	90485	hgsc.bcm.edu	37	19	57175988	57175988	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:57175988C>A	ENST00000537055.2	-	2	810	c.579G>T	c.(577-579)ccG>ccT	p.P193P		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGCAGCGGTGCGGCTTCTCGC	0.726																																					p.P193P		.											.	ZNF835-72	0			c.G579T						.						11.0	13.0	12.0					19																	57175988		2191	4259	6450	SO:0001819	synonymous_variant	90485	exon2			GCGGTGCGGCTTC	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.579G>T	19.37:g.57175988C>A		2	0		55	33	NM_001005850	0	0	0	0	0	B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	CCDS56105.1																																																																																			.		0.726	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850	
ZNF419	79744	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	58004403	58004403	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:58004403C>A	ENST00000221735.7	+	5	664	c.478C>A	c.(478-480)Caa>Aaa	p.Q160K	ZNF419_ENST00000424930.2_Missense_Mutation_p.Q161K|ZNF419_ENST00000442920.2_Missense_Mutation_p.Q147K|ZNF419_ENST00000426954.2_Missense_Mutation_p.Q148K|ZNF419_ENST00000347466.6_Missense_Mutation_p.Q128K|ZNF419_ENST00000415379.2_Missense_Mutation_p.Q114K|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Missense_Mutation_p.Q148K			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	160					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		GAAGTCCTTGCAAAGCAGGGA	0.507																																					p.Q161K		.											.	ZNF419-90	0			c.C481A						.						49.0	52.0	51.0					19																	58004403		2201	4300	6501	SO:0001583	missense	79744	exon5			TCCTTGCAAAGCA	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.478C>A	19.37:g.58004403C>A	ENSP00000221735:p.Gln160Lys	291	0		448	43	NM_001098491	0	0	6	8	2	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	CCDS54326.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.49|13.49	2.253947|2.253947	0.39896|0.39896	.|.	.|.	ENSG00000105136|ENSG00000105136	ENST00000427558|ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000521754;ENST00000221735;ENST00000521137	.|T;T;T;T;T;T;T;T;T	.|0.13420	.|2.59;2.59;2.59;2.59;2.59;2.59;5.63;2.59;2.59	1.95|1.95	-2.42|-2.42	0.06542|0.06542	.|.	.|.	.|.	.|.	.|.	T|T	0.06005|0.06005	0.0156|0.0156	N|N	0.00996|0.00996	-1.065|-1.065	0.09310|0.09310	N|N	1|1	.|P;P;P;P;P;P;P	.|0.49447	.|0.458;0.713;0.924;0.634;0.458;0.73;0.713	.|P;P;P;B;P;B;P	.|0.62298	.|0.678;0.678;0.9;0.117;0.678;0.28;0.678	T|T	0.14727|0.14727	-1.0462|-1.0462	6|9	0.30854|0.06365	T|T	0.27|0.9	.|.	1.6819|1.6819	0.02833|0.02833	0.2023:0.4487:0.2003:0.1487|0.2023:0.4487:0.2003:0.1487	.|.	.|114;114;147;148;161;128;160	.|E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.|.;.;.;.;.;.;ZN419_HUMAN	E|K	91|163;161;148;148;147;161;128;114;115;160;127	.|ENSP00000388864:Q161K;ENSP00000390916:Q148K;ENSP00000346136:Q148K;ENSP00000414709:Q147K;ENSP00000299860:Q128K;ENSP00000392129:Q114K;ENSP00000428523:Q115K;ENSP00000221735:Q160K;ENSP00000429628:Q127K	ENSP00000415213:A91E|ENSP00000221735:Q160K	A|Q	+|+	2|1	0|0	ZNF419|ZNF419	62696215|62696215	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.195000|0.195000	0.23768|0.23768	-2.609000|-2.609000	0.00886|0.00886	-0.318000|-0.318000	0.08665|0.08665	0.205000|0.205000	0.17691|0.17691	GCA|CAA	.		0.507	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691	
ZNF814	730051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	58384936	58384936	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:58384936C>A	ENST00000435989.2	-	3	2056	c.1822G>T	c.(1822-1824)Gaa>Taa	p.E608*	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	608					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCCCACATTCTCCACACTCA	0.468																																					p.E608X		.											.	.	0			c.G1822T						.						85.0	71.0	75.0					19																	58384936		692	1591	2283	SO:0001587	stop_gained	730051	exon3			CACATTCTCCACA		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1822G>T	19.37:g.58384936C>A	ENSP00000410545:p.Glu608*	100	0		116	31	NM_001144989	0	0	2	5	3	A6NF35	Nonsense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	39	7.415334	0.98269	.	.	ENSG00000204514	ENST00000435989	.	.	.	2.18	-0.492	0.12041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	6.0565	0.19815	0.0:0.6704:0.1934:0.1362	.	.	.	.	X	608	.	ENSP00000410545:E608X	E	-	1	0	ZNF814	63076748	0.000000	0.05858	0.020000	0.16555	0.746000	0.42486	-0.647000	0.05397	0.267000	0.21916	0.305000	0.20034	GAA	.		0.468	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
ZNF814	730051	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	58385748	58385748	+	Missense_Mutation	SNP	G	G	A	rs145250945		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:58385748G>A	ENST00000435989.2	-	3	1244	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	337					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A337V(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACTGAAGCTAGCATATTTGCT	0.353																																					p.A337V		.											.	.	2	Substitution - Missense(2)	prostate(2)	c.C1010T						.						58.0	51.0	53.0					19																	58385748		692	1591	2283	SO:0001583	missense	730051	exon3			AAGCTAGCATATT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1010C>T	19.37:g.58385748G>A	ENSP00000410545:p.Ala337Val	91	0		218	88	NM_001144989	0	0	2	2	0	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	3.777	-0.046344	0.07407	.	.	ENSG00000204514	ENST00000435989	T	0.15372	2.43	2.11	-4.21	0.03812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07728	0.0194	N	0.21142	0.635	0.09310	N	1	B	0.32781	0.384	B	0.18561	0.022	T	0.05649	-1.0872	9	0.66056	D	0.02	.	3.5015	0.07674	0.0936:0.1206:0.3016:0.4843	.	337	B7Z6K7	ZN814_HUMAN	V	337	ENSP00000410545:A337V	ENSP00000410545:A337V	A	-	2	0	ZNF814	63077560	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.230000	0.01207	-3.525000	0.00147	-3.867000	0.00017	GCT	.		0.353	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
ZNF814	730051	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																					p.S332S		.											.	.	2	Substitution - coding silent(2)	kidney(2)	c.G996C						.						25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051	exon3			GCTAAACGATTTC		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G		81	0		173	55	NM_001144989	0	0	1	1	0	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
C19orf18	147685	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	58485719	58485719	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:58485719C>A	ENST00000314391.3	-	1	183	c.82G>T	c.(82-84)Gat>Tat	p.D28Y		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	28						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		TGGAGTCCATCTGCATACGGC	0.413																																					p.D28Y		.											.	C19orf18-91	0			c.G82T						.						130.0	123.0	126.0					19																	58485719		2203	4300	6503	SO:0001583	missense	147685	exon1			GTCCATCTGCATA	BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.82G>T	19.37:g.58485719C>A	ENSP00000321519:p.Asp28Tyr	102	1		138	32	NM_152474	0	0	0	0	0		Missense_Mutation	SNP	ENST00000314391.3	37	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	C	8.466	0.856458	0.17106	.	.	ENSG00000177025	ENST00000314391	T	0.59224	0.28	4.29	3.23	0.37069	.	0.906704	0.09119	N	0.845962	T	0.54498	0.1862	N	0.24115	0.695	0.09310	N	1	D	0.60160	0.987	P	0.55303	0.773	T	0.42799	-0.9430	10	0.66056	D	0.02	-1.3103	6.9828	0.24711	0.0:0.8674:0.0:0.1326	.	28	Q8NEA5	CS018_HUMAN	Y	28	ENSP00000321519:D28Y	ENSP00000321519:D28Y	D	-	1	0	C19orf18	63177531	0.008000	0.16893	0.046000	0.18839	0.003000	0.03518	0.581000	0.23819	1.312000	0.45043	0.655000	0.94253	GAT	.		0.413	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474	
RPS5	6193	broad.mit.edu;bcgsc.ca	37	19	58905869	58905869	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:58905869C>A	ENST00000596046.1	+	4	1302	c.453C>A	c.(451-453)atC>atA	p.I151I	RPS5_ENST00000598098.1_Silent_p.I81I|RPS5_ENST00000601521.1_Silent_p.I151I|RPS5_ENST00000598495.1_Silent_p.I172I|AC012313.1_ENST00000601382.1_5'Flank|RPS5_ENST00000196551.3_Silent_p.I151I			P46782	RS5_HUMAN	ribosomal protein S5	151					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		CCTAGGCCATCTGGCTGCTGT	0.602																																					p.I151I		.											.	RPS5-90	0			c.C453A						.						45.0	45.0	45.0					19																	58905869		2203	4299	6502	SO:0001819	synonymous_variant	6193	exon5			GGCCATCTGGCTG	U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"""S ribosomal proteins"""	10426	protein-coding gene	gene with protein product	"""40S ribosomal protein S5"""	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.453C>A	19.37:g.58905869C>A		203	1		247	15	NM_001009	0	0	2	2	0	B2R4T2|Q96BN0	Silent	SNP	ENST00000596046.1	37	CCDS12978.1																																																																																			.		0.602	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467016.1	NM_001009	
ZNF584	201514	bcgsc.ca	37	19	58929136	58929136	+	Missense_Mutation	SNP	G	G	T	rs3764534	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:58929136G>T	ENST00000306910.4	+	4	1774	c.1251G>T	c.(1249-1251)aaG>aaT	p.K417N	CTD-2619J13.16_ENST00000596296.1_lincRNA|ZNF584_ENST00000593920.1_Missense_Mutation_p.K372N|ZNF584_ENST00000599238.1_3'UTR	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		CACATGGGAAGGTCGTTAGCT	0.512																																					p.K417N		.											.	ZNF584-90	0			c.G1251T						.						80.0	81.0	81.0					19																	58929136		2203	4300	6503	SO:0001583	missense	201514	exon4			TGGGAAGGTCGTT	AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"""Zinc fingers, C2H2-type"", ""-"""	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.1251G>T	19.37:g.58929136G>T	ENSP00000306756:p.Lys417Asn	188	1		258	24	NM_173548	0	0	39	44	5	A8K203	Missense_Mutation	SNP	ENST00000306910.4	37	CCDS12979.1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.903410	0.52333	.	.	ENSG00000171574	ENST00000306910	T	0.06933	3.24	4.64	-0.234	0.13074	.	.	.	.	.	T	0.11707	0.0285	M	0.82923	2.615	0.58432	P	1.0000000000287557E-6	B	0.14805	0.011	B	0.12156	0.007	T	0.13575	-1.0504	8	0.87932	D	0	.	4.4065	0.11411	0.4142:0.0:0.4199:0.166	.	417	Q8IVC4	ZN584_HUMAN	N	417	ENSP00000306756:K417N	ENSP00000306756:K417N	K	+	3	2	ZNF584	63620948	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.179000	0.09768	-0.145000	0.11294	-0.490000	0.04691	AAG	G|0.453;A|0.547		0.512	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1	NM_173548	
C2orf50	130813	bcgsc.ca	37	2	11284210	11284210	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:11284210G>T	ENST00000381585.3	+	3	744	c.462G>T	c.(460-462)aaG>aaT	p.K154N	C2orf50_ENST00000405022.3_Missense_Mutation_p.K154N			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	154										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		GGAAGAAGAAGCTGGAGGACC	0.617																																					p.K154N		.											.	C2orf50-90	0			c.G462T						.						40.0	40.0	40.0					2																	11284210		2203	4300	6503	SO:0001583	missense	130813	exon3			GAAGAAGCTGGAG	AK057872	CCDS1678.1	2p25.1	2012-08-02			ENSG00000150873	ENSG00000150873			26324	protein-coding gene	gene with protein product						12477932	Standard	NM_182500		Approved	FLJ25143	uc010yjj.1	Q96LR7	OTTHUMG00000119057	ENST00000381585.3:c.462G>T	2.37:g.11284210G>T	ENSP00000370997:p.Lys154Asn	218	4		172	33	NM_182500	0	0	0	0	0	A8K9W3|D6W503	Missense_Mutation	SNP	ENST00000381585.3	37	CCDS1678.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806803	0.50421	.	.	ENSG00000150873	ENST00000381585;ENST00000405022	.	.	.	4.23	3.17	0.36434	.	0.175809	0.37955	N	0.001872	T	0.65709	0.2717	M	0.79475	2.455	0.46521	D	0.999083	D	0.61080	0.989	P	0.55824	0.785	T	0.68731	-0.5331	9	0.72032	D	0.01	-2.0486	5.9743	0.19369	0.2572:0.0:0.7428:0.0	.	154	Q96LR7	CB050_HUMAN	N	154	.	ENSP00000370997:K154N	K	+	3	2	C2orf50	11201661	1.000000	0.71417	0.998000	0.56505	0.553000	0.35397	2.903000	0.48711	1.917000	0.55516	0.561000	0.74099	AAG	.		0.617	C2orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239268.1	NM_182500	
AGBL5	60509	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	27290394	27290394	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:27290394C>A	ENST00000360131.4	+	12	2281	c.2122C>A	c.(2122-2124)Cag>Aag	p.Q708K		NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	708					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGGCAGCAGCAGCCCCTGAA	0.587																																					p.Q708K		.											.	AGBL5-154	0			c.C2122A						.						94.0	89.0	91.0					2																	27290394		2203	4300	6503	SO:0001583	missense	60509	exon12			CAGCAGCAGCCCC	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.2122C>A	2.37:g.27290394C>A	ENSP00000353249:p.Gln708Lys	118	1		102	32	NM_021831	0	0	2	5	3	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971139	0.92919	.	.	ENSG00000084693	ENST00000360131;ENST00000441931	T	0.14516	2.5	6.07	6.07	0.98685	.	0.330547	0.30820	N	0.008815	T	0.29684	0.0741	L	0.36672	1.1	0.49687	D	0.999814	D	0.54964	0.969	D	0.64877	0.93	T	0.00162	-1.1971	10	0.66056	D	0.02	-13.3479	19.4308	0.94765	0.0:1.0:0.0:0.0	.	708	Q8NDL9	CBPC5_HUMAN	K	708;58	ENSP00000353249:Q708K	ENSP00000353249:Q708K	Q	+	1	0	AGBL5	27143898	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	3.756000	0.55205	2.885000	0.99019	0.655000	0.94253	CAG	.		0.587	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831	
CRIM1	51232	hgsc.bcm.edu;broad.mit.edu	37	2	36583544	36583544	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:36583544T>G	ENST00000280527.2	+	1	476	c.109T>G	c.(109-111)Tgc>Ggc	p.C37G	RP11-490M8.1_ENST00000565283.1_lincRNA	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	37	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGCGCTGGTCTGCCTGCCCTG	0.731																																					p.C37G		.											.	CRIM1-118	0			c.T109G						.						14.0	19.0	17.0					2																	36583544		2198	4285	6483	SO:0001583	missense	51232	exon1			CTGGTCTGCCTGC	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.109T>G	2.37:g.36583544T>G	ENSP00000280527:p.Cys37Gly	14	0		53	8	NM_016441	0	0	1	1	0	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	t	20.9	4.073294	0.76415	.	.	ENSG00000150938	ENST00000280527	T	0.69806	-0.43	3.0	3.0	0.34707	Insulin-like growth factor-binding protein, IGFBP (2);	0.000000	0.85682	U	0.000000	T	0.81361	0.4806	M	0.87180	2.865	0.58432	D	0.999992	D	0.65815	0.995	D	0.70487	0.969	D	0.83617	0.0137	10	0.87932	D	0	-3.6025	10.6917	0.45875	0.0:0.0:0.0:1.0	.	37	Q9NZV1	CRIM1_HUMAN	G	37	ENSP00000280527:C37G	ENSP00000280527:C37G	C	+	1	0	CRIM1	36437048	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.046000	0.71029	1.165000	0.42670	0.446000	0.29264	TGC	.		0.731	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441	
HEATR5B	54497	broad.mit.edu	37	2	37215999	37215999	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:37215999G>T	ENST00000233099.5	-	35	5796	c.5701C>A	c.(5701-5703)Caa>Aaa	p.Q1901K	HEATR5B_ENST00000354531.2_Missense_Mutation_p.Q1812K	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1901						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CATTTGGCTTGAACCTATATA	0.343																																					p.Q1901K		.											.	HEATR5B-142	0			c.C5701A						.						70.0	75.0	74.0					2																	37215999		2203	4300	6503	SO:0001583	missense	54497	exon35			TGGCTTGAACCTA	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5701C>A	2.37:g.37215999G>T	ENSP00000233099:p.Gln1901Lys	53	2		33	6	NM_019024	0	0	0	0	0	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530674	0.64860	.	.	ENSG00000008869	ENST00000425467;ENST00000233099;ENST00000354531	T;T	0.64260	-0.09;-0.09	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.184337	0.47093	D	0.000248	T	0.52933	0.1765	L	0.43923	1.385	0.32372	N	0.555685	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.004	T	0.53012	-0.8498	10	0.02654	T	1	-12.2041	19.2784	0.94040	0.0:0.0:1.0:0.0	.	1901;1901	Q9P2D3;B9EK47	HTR5B_HUMAN;.	K	2;1901;1812	ENSP00000233099:Q1901K;ENSP00000346531:Q1812K	ENSP00000233099:Q1901K	Q	-	1	0	HEATR5B	37069503	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	9.495000	0.97964	2.630000	0.89119	0.491000	0.48974	CAA	.		0.343	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	
SLC8A1	6546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	40657111	40657111	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:40657111C>A	ENST00000403092.1	-	2	343	c.310G>T	c.(310-312)Gaa>Taa	p.E104*	SLC8A1_ENST00000332839.4_Nonsense_Mutation_p.E104*|SLC8A1_ENST00000542024.1_Nonsense_Mutation_p.E104*|SLC8A1_ENST00000405269.1_Nonsense_Mutation_p.E104*|SLC8A1_ENST00000406785.2_Nonsense_Mutation_p.E104*|SLC8A1_ENST00000408028.2_Nonsense_Mutation_p.E104*|SLC8A1_ENST00000406391.2_Nonsense_Mutation_p.E104*|SLC8A1_ENST00000542756.1_Nonsense_Mutation_p.E104*|SLC8A1_ENST00000405901.3_Nonsense_Mutation_p.E104*|SLC8A1_ENST00000402441.1_Nonsense_Mutation_p.E104*			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	104					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTGATGACTTCTATAGAGGAC	0.398																																					p.E104X		.											.	SLC8A1-93	0			c.G310T						.						112.0	117.0	115.0					2																	40657111		2203	4300	6503	SO:0001587	stop_gained	6546	exon1			TGACTTCTATAGA		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.310G>T	2.37:g.40657111C>A	ENSP00000384763:p.Glu104*	60	0		60	32	NM_001252624	0	0	0	0	0	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Nonsense_Mutation	SNP	ENST00000403092.1	37	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333789	0.81801	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000542640;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.1057	0.86662	0.0:1.0:0.0:0.0	.	.	.	.	X	104	.	ENSP00000332931:E104X	E	-	1	0	SLC8A1	40510615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.663000	0.83820	2.648000	0.89879	0.563000	0.77884	GAA	.		0.398	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097	
ASPRV1	151516	ucsc.edu;bcgsc.ca	37	2	70188113	70188113	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:70188113C>A	ENST00000320256.4	-	1	1284	c.708G>T	c.(706-708)ctG>ctT	p.L236L	PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CAAAGGGCTGCAGGGTGTCCA	0.572																																					p.L236L		.											.	ASPRV1-69	0			c.G708T						.						82.0	78.0	79.0					2																	70188113		2203	4300	6503	SO:0001819	synonymous_variant	151516	exon1			GGGCTGCAGGGTG	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.708G>T	2.37:g.70188113C>A		158	2		123	21	NM_152792	0	0	4	4	0		Silent	SNP	ENST00000320256.4	37	CCDS1897.1																																																																																			.		0.572	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792	
ANKRD53	79998	hgsc.bcm.edu	37	2	71206267	71206267	+	Missense_Mutation	SNP	G	G	A	rs57527165	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:71206267G>A	ENST00000360589.3	+	2	245	c.211G>A	c.(211-213)Gcg>Acg	p.A71T	ANKRD53_ENST00000441349.1_Intron|ANKRD53_ENST00000457410.1_Intron|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000272421.6_Missense_Mutation_p.A71T	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	71										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CAGTGCGCAGGCGACTGCCCT	0.751													G|||	672	0.134185	0.208	0.2781	5008	,	,		10821	0.0516		0.0497	False		,,,				2504	0.1043				p.A71T		.											.	ANKRD53-90	0			c.G211A						.	G	THR/ALA,THR/ALA	738,3520		65,608,1456	14.0	17.0	16.0		211,211	-1.5	0.0	2	dbSNP_129	16	406,7904		12,382,3761	no	missense,missense	ANKRD53	NM_001115116.1,NM_024933.3	58,58	77,990,5217	AA,AG,GG		4.8857,17.3321,9.1025	possibly-damaging,possibly-damaging	71/531,71/344	71206267	1144,11424	2129	4155	6284	SO:0001583	missense	79998	exon2			GCGCAGGCGACTG	BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"""Ankyrin repeat domain containing"""	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.211G>A	2.37:g.71206267G>A	ENSP00000353796:p.Ala71Thr	0	0		8	7	NM_001115116	0	0	0	0	0	Q8IYP8	Missense_Mutation	SNP	ENST00000360589.3	37	CCDS46321.1	259	0.11858974358974358	105	0.21341463414634146	89	0.24585635359116023	27	0.0472027972027972	38	0.05013192612137203	G	12.61	1.989396	0.35131	0.173321	0.048857	ENSG00000144031	ENST00000272421;ENST00000360589	T;T	0.64991	-0.13;-0.09	1.95	-1.51	0.08664	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;P	0.36354	0.414;0.549	B;B	0.35353	0.099;0.201	T	0.06041	-1.0849	8	0.46703	T	0.11	0.6536	5.2416	0.15475	0.0:0.3409:0.4939:0.1652	rs57527165	71;71	Q8N9V6;Q8N9V6-2	ANR53_HUMAN;.	T	71	ENSP00000272421:A71T;ENSP00000353796:A71T	ENSP00000272421:A71T	A	+	1	0	ANKRD53	71059775	0.009000	0.17119	0.000000	0.03702	0.013000	0.08279	0.505000	0.22642	-0.454000	0.07066	0.561000	0.74099	GCG	G|0.893;A|0.107		0.751	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330275.2	NM_024933	
SNRNP200	23020	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	96948949	96948949	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:96948949G>T	ENST00000323853.5	-	34	4982	c.4905C>A	c.(4903-4905)ctC>ctA	p.L1635L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1635	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTGAGCTGAAGAGCTGCTCCA	0.567																																					p.L1635L		.											.	SNRNP200-162	0			c.C4905A						.						95.0	84.0	88.0					2																	96948949		2203	4300	6503	SO:0001819	synonymous_variant	23020	exon34			GCTGAAGAGCTGC	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.4905C>A	2.37:g.96948949G>T		74	0		68	22	NM_014014	0	0	0	0	0	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	CCDS2020.1																																																																																			.		0.567	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014	
IL1RL1	9173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	102964457	102964457	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:102964457G>T	ENST00000233954.1	+	9	1294	c.1023G>T	c.(1021-1023)atG>atT	p.M341I		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	341					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TATTTTTAATGCTAATCAATG	0.333																																					p.M341I		.											.	IL1RL1-517	0			c.G1023T						.						131.0	125.0	127.0					2																	102964457		2203	4300	6503	SO:0001583	missense	9173	exon9			TTTAATGCTAATC	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.1023G>T	2.37:g.102964457G>T	ENSP00000233954:p.Met341Ile	81	0		73	12	NM_016232	0	0	0	0	0	A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	G	1.046	-0.677260	0.03378	.	.	ENSG00000115602	ENST00000233954	T	0.59638	0.25	5.53	-0.0869	0.13679	.	0.610365	0.17704	N	0.164820	T	0.35799	0.0944	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09552	-1.0669	10	0.26408	T	0.33	.	0.4107	0.00440	0.246:0.1729:0.3307:0.2504	.	341	Q01638	ILRL1_HUMAN	I	341	ENSP00000233954:M341I	ENSP00000233954:M341I	M	+	3	0	IL1RL1	102330889	0.001000	0.12720	0.007000	0.13788	0.002000	0.02628	-0.060000	0.11712	0.106000	0.17784	-1.031000	0.02408	ATG	.		0.333	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232	
MRPS9	64965	broad.mit.edu	37	2	105654631	105654631	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:105654631G>T	ENST00000258455.3	+	1	191	c.81G>T	c.(79-81)aaG>aaT	p.K27N	AC010884.1_ENST00000456519.1_RNA	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	27					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCGCCCGGAAGCAAGGCCTCT	0.622																																					p.K27N		.											.	MRPS9-90	0			c.G81T						.						31.0	30.0	30.0					2																	105654631		2203	4300	6503	SO:0001583	missense	64965	exon1			CCGGAAGCAAGGC		CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"""Mitochondrial ribosomal proteins / small subunits"""	14501	protein-coding gene	gene with protein product	"""28S ribosomal protein S9, mitochondrial"""	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.81G>T	2.37:g.105654631G>T	ENSP00000258455:p.Lys27Asn	108	2		113	23	NM_182640	0	0	6	9	3	Q6PG40	Missense_Mutation	SNP	ENST00000258455.3	37	CCDS2065.1	.	.	.	.	.	.	.	.	.	.	G	9.774	1.173613	0.21704	.	.	ENSG00000135972	ENST00000258455	T	0.42900	0.96	4.82	-9.64	0.00541	.	1.538920	0.03113	N	0.162801	T	0.20659	0.0497	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13229	-1.0517	10	0.17832	T	0.49	-9.353	0.7541	0.00996	0.2603:0.3061:0.1264:0.3071	.	27	P82933	RT09_HUMAN	N	27	ENSP00000258455:K27N	ENSP00000258455:K27N	K	+	3	2	MRPS9	105021063	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.515000	0.06290	-1.607000	0.01589	-1.045000	0.02358	AAG	.		0.622	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253352.1	NM_182640	
TGFBRAP1	9392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	105886085	105886085	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:105886085G>T	ENST00000393359.2	-	11	2476	c.2050C>A	c.(2050-2052)Cat>Aat	p.H684N	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.H684N			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	684					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						ACCAGGATATGCAGCGCCTTC	0.642																																					p.H684N	Esophageal Squamous(183;794 2019 9730 21801 48859)	.											.	TGFBRAP1-91	0			c.C2050A						.						27.0	27.0	27.0					2																	105886085		2203	4300	6503	SO:0001583	missense	9392	exon11			GGATATGCAGCGC	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.2050C>A	2.37:g.105886085G>T	ENSP00000377027:p.His684Asn	56	0		58	30	NM_004257	0	0	2	7	5	A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248571	0.39797	.	.	ENSG00000135966	ENST00000393359;ENST00000258449;ENST00000543724	T;T	0.16897	2.31;2.31	5.54	4.64	0.57946	.	0.388763	0.31031	N	0.008390	T	0.15955	0.0384	L	0.50333	1.59	0.44402	D	0.997319	B;B	0.23990	0.095;0.004	B;B	0.17979	0.02;0.016	T	0.03981	-1.0987	10	0.27082	T	0.32	-8.0679	11.254	0.49043	0.0:0.138:0.7185:0.1435	.	139;684	B3KMM9;Q8WUH2	.;TGFA1_HUMAN	N	684;684;139	ENSP00000377027:H684N;ENSP00000258449:H684N	ENSP00000258449:H684N	H	-	1	0	TGFBRAP1	105252517	1.000000	0.71417	0.948000	0.38648	0.616000	0.37450	3.594000	0.54008	1.308000	0.44962	0.462000	0.41574	CAT	.		0.642	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257	
SLC5A7	60482	ucsc.edu;bcgsc.ca	37	2	108609540	108609540	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:108609540G>T	ENST00000264047.2	+	4	681	c.405G>T	c.(403-405)ctG>ctT	p.L135L	SLC5A7_ENST00000409059.1_Silent_p.L135L|SLC5A7_ENST00000540517.1_Silent_p.L30L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	135					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTCCTGCACTGATGGGAGAAA	0.443																																					p.L135L		.											.	SLC5A7-93	0			c.G405T						.						124.0	110.0	115.0					2																	108609540		2203	4300	6503	SO:0001819	synonymous_variant	60482	exon4			TGCACTGATGGGA	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.405G>T	2.37:g.108609540G>T		181	3		141	65	NM_021815	0	0	0	0	0	Q53TF2	Silent	SNP	ENST00000264047.2	37	CCDS2074.1																																																																																			.		0.443	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1		
GCC2	9648	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	109087646	109087646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:109087646G>T	ENST00000309863.6	+	6	2575	c.1861G>T	c.(1861-1863)Gaa>Taa	p.E621*		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	621					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TGAAAGGGAAGAAAGATTGAT	0.313																																					p.E621X		.											.	GCC2-91	0			c.G1861T						.						65.0	75.0	72.0					2																	109087646		2201	4298	6499	SO:0001587	stop_gained	9648	exon6			AGGGAAGAAAGAT	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1861G>T	2.37:g.109087646G>T	ENSP00000307939:p.Glu621*	188	1		150	18	NM_181453	0	0	2	2	0	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Nonsense_Mutation	SNP	ENST00000309863.6	37	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858402	0.51376	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	.	.	.	5.62	3.72	0.42706	.	0.305751	0.29932	N	0.010833	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	6.1819	0.20476	0.2202:0.3649:0.4149:0.0	.	.	.	.	X	621;584;366	.	ENSP00000307939:E621X	E	+	1	0	GCC2	108454078	0.911000	0.30947	0.008000	0.14137	0.125000	0.20455	0.453000	0.21811	0.711000	0.32018	0.650000	0.86243	GAA	.		0.313	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	
SOWAHC	65124	hgsc.bcm.edu	37	2	110372192	110372192	+	Silent	SNP	A	A	G	rs6594048		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:110372192A>G	ENST00000356454.3	+	1	282	c.126A>G	c.(124-126)ctA>ctG	p.L42L	SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	42																	GGGGCGCCCTAGGCGGCGAAC	0.771													G|||	5008	1.0	1.0	1.0	5008	,	,		6158	1.0		1.0	False		,,,				2504	1.0				p.L42L		.											.	.	0			c.A126G						.						1.0	2.0	2.0					2																	110372192		1239	2477	3716	SO:0001819	synonymous_variant	65124	exon1			CGCCCTAGGCGGC	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"""Ankyrin repeat domain containing"""	26149	protein-coding gene	gene with protein product			"""ankyrin repeat domain 57"""	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.126A>G	2.37:g.110372192A>G		0	0		8	8	NM_023016	0	0	0	0	0	Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	CCDS33270.1																																																																																			A|0.029;G|0.971		0.771	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016	
MERTK	10461	ucsc.edu;bcgsc.ca	37	2	112740485	112740485	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:112740485G>T	ENST00000295408.4	+	8	1468	c.1211G>T	c.(1210-1212)aGa>aTa	p.R404I	MERTK_ENST00000409780.1_Missense_Mutation_p.R228I|MERTK_ENST00000421804.2_Missense_Mutation_p.R404I			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	404	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGGACATCAGATGGATGAAG	0.458																																					p.R404I		.											.	MERTK-1463	0			c.G1211T						.						178.0	170.0	172.0					2																	112740485		2203	4300	6503	SO:0001583	missense	10461	exon8			ACATCAGATGGAT	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1211G>T	2.37:g.112740485G>T	ENSP00000295408:p.Arg404Ile	191	2		140	69	NM_006343	0	0	4	17	13	Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	9.165	1.019675	0.19355	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.54279	0.58;0.58;0.58	4.8	2.99	0.34606	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.35013	U	0.003509	T	0.51092	0.1654	M	0.84948	2.725	0.22001	N	0.999424	P	0.39216	0.664	B	0.35353	0.201	T	0.53429	-0.8440	10	0.66056	D	0.02	-5.1359	6.4736	0.22022	0.167:0.1474:0.6856:0.0	.	404	Q12866	MERTK_HUMAN	I	404;404;228	ENSP00000295408:R404I;ENSP00000389152:R404I;ENSP00000387277:R228I	ENSP00000295408:R404I	R	+	2	0	MERTK	112456956	0.002000	0.14202	0.003000	0.11579	0.193000	0.23685	1.038000	0.30254	0.552000	0.29026	0.508000	0.49915	AGA	.		0.458	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2		
WDR33	55339	broad.mit.edu	37	2	128477187	128477187	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:128477187G>T	ENST00000322313.4	-	16	2570	c.2412C>A	c.(2410-2412)ggC>ggA	p.G804G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	804					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GAGGCGGGTGGCCCATAATCA	0.607																																					p.G804G		.											.	WDR33-90	0			c.C2412A						.						28.0	32.0	31.0					2																	128477187		2203	4300	6503	SO:0001819	synonymous_variant	55339	exon16			CGGGTGGCCCATA		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2412C>A	2.37:g.128477187G>T		26	0		24	3	NM_018383	0	0	5	6	1	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	ENST00000322313.4	37	CCDS2150.1																																																																																			.		0.607	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383	
AMMECR1L	83607	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	128631584	128631584	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:128631584G>T	ENST00000272647.5	-	3	485	c.225C>A	c.(223-225)ccC>ccA	p.P75P	AMMECR1L_ENST00000393001.1_Silent_p.P75P	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	75										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		TTCGTGTGATGGGAGAGTTTC	0.547																																					p.P75P		.											.	AMMECR1L-90	0			c.C225A						.						176.0	160.0	166.0					2																	128631584		2203	4300	6503	SO:0001819	synonymous_variant	83607	exon3			TGTGATGGGAGAG		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"""AMME chromosomal region gene 1-like"""				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.225C>A	2.37:g.128631584G>T		144	0		122	24	NM_031445	0	0	2	4	2	B4E276	Silent	SNP	ENST00000272647.5	37	CCDS2152.1																																																																																			.		0.547	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445	
CCDC74B	91409	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	130898834	130898834	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:130898834G>T	ENST00000310463.6	-	4	717	c.580C>A	c.(580-582)Caa>Aaa	p.Q194K	MED15P9_ENST00000427638.1_RNA|CCDC74B_ENST00000392984.3_Missense_Mutation_p.Q296K|CCDC74B_ENST00000409943.3_Missense_Mutation_p.Q128K|CCDC74B_ENST00000409128.1_Missense_Mutation_p.Q170K	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	194										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TTTGAATCTTGCTTGTTGAAG	0.602																																					p.Q194K		.											.	CCDC74B-90	0			c.C580A						.						109.0	79.0	89.0					2																	130898834		2202	4296	6498	SO:0001583	missense	91409	exon4			AATCTTGCTTGTT		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.580C>A	2.37:g.130898834G>T	ENSP00000308873:p.Gln194Lys	103	0		83	32	NM_207310	0	0	99	99	0	Q6NW18	Missense_Mutation	SNP	ENST00000310463.6	37	CCDS2155.1	.	.	.	.	.	.	.	.	.	.	.	0.503	-0.870092	0.02570	.	.	ENSG00000152076	ENST00000409943;ENST00000310463;ENST00000392984;ENST00000409488;ENST00000409128;ENST00000418636	T;T;T;T	0.52754	1.83;1.85;1.8;0.65	2.39	1.48	0.22813	.	0.931409	0.08765	U	0.897237	T	0.53158	0.1779	L	0.60455	1.87	0.09310	N	0.999993	B;D;P	0.61697	0.337;0.99;0.794	B;P;B	0.56216	0.038;0.794;0.31	T	0.42498	-0.9448	10	0.54805	T	0.06	-3.2957	4.3607	0.11201	0.2006:0.0:0.7994:0.0	.	296;128;194	E7ESC5;Q96LY2-2;Q96LY2	.;.;CC74B_HUMAN	K	128;194;296;132;170;153	ENSP00000386294:Q128K;ENSP00000308873:Q194K;ENSP00000376710:Q296K;ENSP00000386644:Q170K	ENSP00000308873:Q194K	Q	-	1	0	CCDC74B	130615304	0.975000	0.34042	0.785000	0.31869	0.090000	0.18270	1.771000	0.38542	1.338000	0.45544	0.298000	0.19748	CAA	.		0.602	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310	
NEB	4703	bcgsc.ca	37	2	152515607	152515607	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:152515607G>T	ENST00000172853.10	-	47	6194	c.6047C>A	c.(6046-6048)gCa>gAa	p.A2016E	NEB_ENST00000397345.3_Missense_Mutation_p.A2016E|NEB_ENST00000604864.1_Missense_Mutation_p.A2016E|NEB_ENST00000603639.1_Missense_Mutation_p.A2016E|NEB_ENST00000427231.2_Missense_Mutation_p.A2016E|NEB_ENST00000409198.1_Missense_Mutation_p.A2016E			P20929	NEBU_HUMAN	nebulin	2016					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTTGCCTTTGCCAAAATAAT	0.368																																					p.A2016E		.											.	NEB-145	0			c.C6047A						.						220.0	213.0	215.0					2																	152515607		1873	4106	5979	SO:0001583	missense	4703	exon47			GCCTTTGCCAAAA	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6047C>A	2.37:g.152515607G>T	ENSP00000172853:p.Ala2016Glu	111	0		74	5	NM_004543	0	0	0	0	0	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	G	27.7	4.852359	0.91355	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.84705	0.5531	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85603	0.1253	10	0.72032	D	0.01	.	19.4436	0.94836	0.0:0.0:1.0:0.0	.	2016	P20929	NEBU_HUMAN	E	2016	ENSP00000386259:A2016E;ENSP00000380505:A2016E;ENSP00000416578:A2016E;ENSP00000172853:A2016E	ENSP00000172853:A2016E	A	-	2	0	NEB	152223853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.123000	0.89586	2.894000	0.99253	0.591000	0.81541	GCA	.		0.368	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
SCN2A	6326	broad.mit.edu;bcgsc.ca	37	2	166166936	166166936	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:166166936G>T	ENST00000375437.2	+	7	1091	c.801G>T	c.(799-801)ttG>ttT	p.L267F	SCN2A_ENST00000283256.6_Missense_Mutation_p.L267F|SCN2A_ENST00000375427.2_Missense_Mutation_p.L267F|SCN2A_ENST00000357398.3_Missense_Mutation_p.L267F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	267					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L267F(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAATAGGATTGCAGTTGTTCA	0.408																																					p.L267F		.											.	SCN2A-142	2	Substitution - Missense(2)	lung(2)	c.G801T						.						222.0	212.0	215.0					2																	166166936		2203	4300	6503	SO:0001583	missense	6326	exon6			AGGATTGCAGTTG	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.801G>T	2.37:g.166166936G>T	ENSP00000364586:p.Leu267Phe	133	1		88	6	NM_001040143	0	0	0	0	0	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777242	0.49786	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0	5.27	-9.01	0.00744	Ion transport (1);	0.123925	0.36628	N	0.002487	D	0.98661	0.9551	H	0.94462	3.54	0.47949	D	0.999551	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97492	1.0054	10	0.87932	D	0	.	10.7419	0.46158	0.21:0.1689:0.6211:0.0	.	267;267	Q99250-2;Q99250	.;SCN2A_HUMAN	F	267	ENSP00000406454:L267F;ENSP00000364586:L267F;ENSP00000349973:L267F;ENSP00000283256:L267F;ENSP00000364576:L267F	ENSP00000283256:L267F	L	+	3	2	SCN2A	165875182	0.452000	0.25713	0.656000	0.29637	0.904000	0.53231	-0.258000	0.08733	-1.308000	0.02318	-1.193000	0.01689	TTG	.		0.408	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
SCN9A	6335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	167129186	167129186	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:167129186C>A	ENST00000409435.1	-	16	3073	c.3074G>T	c.(3073-3075)aGa>aTa	p.R1025I	SCN9A_ENST00000375387.4_Missense_Mutation_p.R1026I|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1014I|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1026I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1025					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCTGCTTGTCTTATCTCCCT	0.318																																					p.R1014I		.											.	SCN9A-181	0			c.G3041T						.						94.0	87.0	89.0					2																	167129186		1818	4080	5898	SO:0001583	missense	6335	exon17			GCTTGTCTTATCT	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3074G>T	2.37:g.167129186C>A	ENSP00000386330:p.Arg1025Ile	38	0		37	6	NM_002977	0	0	0	0	0	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561881	0.27915	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.42	0.333	0.15943	.	1.131860	0.06567	N	0.747750	T	0.74794	0.3763	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.59925	-0.7362	10	0.59425	D	0.04	.	1.5815	0.02636	0.1229:0.2907:0.1782:0.4082	.	1014	E7EUN6	.	I	1014;1026;1026;1025	ENSP00000386306:R1014I;ENSP00000364536:R1026I;ENSP00000304748:R1026I;ENSP00000386330:R1025I	ENSP00000304748:R1026I	R	-	2	0	SCN9A	166837432	0.000000	0.05858	0.001000	0.08648	0.736000	0.42039	0.552000	0.23376	0.051000	0.15978	-0.157000	0.13467	AGA	.		0.318	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
DHRS9	10170	bcgsc.ca	37	2	169939886	169939886	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:169939886C>A	ENST00000327239.4	+	6	1865	c.361C>A	c.(361-363)Ccc>Acc	p.P121T	DHRS9_ENST00000436483.2_Missense_Mutation_p.P121T|DHRS9_ENST00000432060.2_Missense_Mutation_p.P181T|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000357546.2_Missense_Mutation_p.P121T|DHRS9_ENST00000602501.1_Missense_Mutation_p.P121T|DHRS9_ENST00000428522.1_Missense_Mutation_p.P121T|DHRS9_ENST00000412271.1_Missense_Mutation_p.P121T	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	121					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CGTGCTGGCTCCCACTGACTG	0.473																																					p.P121T		.											.	DHRS9-90	0			c.C361A						.						124.0	108.0	114.0					2																	169939886		2203	4300	6503	SO:0001583	missense	10170	exon6			CTGGCTCCCACTG	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.361C>A	2.37:g.169939886C>A	ENSP00000316670:p.Pro121Thr	164	5		118	53	NM_005771	0	0	0	0	0	B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	ENST00000327239.4	37	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358447	0.82243	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000436483;ENST00000412271	D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	5.84	4.97	0.65823	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92903	0.7742	L	0.58302	1.8	0.53688	D	0.99997	P;D	0.56287	0.948;0.975	P;P	0.58520	0.823;0.84	D	0.93101	0.6508	10	0.56958	D	0.05	.	14.7112	0.69232	0.0:0.93:0.0:0.07	.	181;121	B7Z416;Q9BPW9	.;DHRS9_HUMAN	T	121;121;181;121;121;121	ENSP00000316670:P121T;ENSP00000350154:P121T;ENSP00000389241:P181T;ENSP00000388564:P121T;ENSP00000407167:P121T;ENSP00000407747:P121T	ENSP00000316670:P121T	P	+	1	0	DHRS9	169648132	1.000000	0.71417	0.994000	0.49952	0.786000	0.44442	7.582000	0.82546	1.491000	0.48482	0.591000	0.81541	CCC	.		0.473	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771	
DCAF17	80067	ucsc.edu;bcgsc.ca	37	2	172330394	172330394	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:172330394G>T	ENST00000375255.3	+	10	1327	c.1000G>T	c.(1000-1002)Gaa>Taa	p.E334*	DCAF17_ENST00000539783.1_Intron|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	334					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TGGGATCCAAGAAATGGATTG	0.338																																					p.E334X		.											.	DCAF17-90	0			c.G1000T						.						81.0	78.0	79.0					2																	172330394		2203	4300	6503	SO:0001587	stop_gained	80067	exon10			ATCCAAGAAATGG	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.1000G>T	2.37:g.172330394G>T	ENSP00000364404:p.Glu334*	135	5		97	39	NM_025000	0	0	0	0	0	B2RTW5|Q53TN3|Q9H908	Nonsense_Mutation	SNP	ENST00000375255.3	37	CCDS2243.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.79|16.79	3.219423|3.219423	0.58560|0.58560	.|.	.|.	ENSG00000115827|ENSG00000115827	ENST00000375255;ENST00000429466|ENST00000339506;ENST00000431110	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.157487|.	0.53938|.	D|.	0.000042|.	.|T	.|0.75451	.|0.3851	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73594	.|-0.3933	.|4	0.35671|.	T|.	0.21|.	-18.2514|-18.2514	19.4462|19.4462	0.94847|0.94847	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	334;84|84;35	.|.	ENSP00000364404:E334X|.	E|K	+|+	1|3	0|2	DCAF17|DCAF17	172038640|172038640	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.362000|0.362000	0.29581|0.29581	6.093000|6.093000	0.71422|0.71422	2.567000|2.567000	0.86603|0.86603	0.655000|0.655000	0.94253|0.94253	GAA|AAG	.		0.338	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000	
ITGA6	3655	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	173338941	173338941	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:173338941C>A	ENST00000264106.6	+	7	1254	c.1051C>A	c.(1051-1053)Ctg>Atg	p.L351M	ITGA6_ENST00000375221.2_Missense_Mutation_p.L351M|ITGA6_ENST00000264107.7_Missense_Mutation_p.L312M|ITGA6_ENST00000409532.1_Missense_Mutation_p.L193M|ITGA6_ENST00000343713.4_Missense_Mutation_p.L307M|ITGA6_ENST00000409080.1_Missense_Mutation_p.L312M			P23229	ITA6_HUMAN	integrin, alpha 6	351					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGGAGAAGGTCTGGCCTCTTC	0.493																																					p.L312M		.											.	ITGA6-227	0			c.C934A						.						126.0	113.0	118.0					2																	173338941		2203	4300	6503	SO:0001583	missense	3655	exon6			GAAGGTCTGGCCT		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1051C>A	2.37:g.173338941C>A	ENSP00000264106:p.Leu351Met	152	0		117	62	NM_000210	0	0	1	1	0	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37		.	.	.	.	.	.	.	.	.	.	C	22.0	4.229243	0.79688	.	.	ENSG00000091409	ENST00000412899;ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.36	2.56	0.30785	.	0.000000	0.85682	D	0.000000	T	0.68155	0.2970	N	0.13098	0.295	0.58432	D	0.999999	P;D;D	0.89917	0.92;1.0;1.0	P;D;D	0.97110	0.621;1.0;1.0	T	0.66110	-0.6005	10	0.33940	T	0.23	.	10.5298	0.44971	0.0:0.7951:0.0:0.2049	.	307;312;312	P23229-4;G5E9H1;P23229-2	.;.;.	M	198;193;312;351;351;307;312;351;307	ENSP00000413470:L198M;ENSP00000386614:L193M;ENSP00000264107:L312M;ENSP00000264106:L351M;ENSP00000364369:L351M;ENSP00000341078:L307M;ENSP00000386896:L312M;ENSP00000406694:L351M;ENSP00000394169:L307M	ENSP00000264106:L351M	L	+	1	2	ITGA6	173047187	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	2.208000	0.42797	1.258000	0.44101	0.655000	0.94253	CTG	.		0.493	ITGA6-201	KNOWN	basic	protein_coding	protein_coding			
WIPF1	7456	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	2	175427307	175427307	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:175427307C>A	ENST00000392547.2	-	8	1579	c.1480G>T	c.(1480-1482)Ggt>Tgt	p.G494C	WIPF1_ENST00000392546.2_Missense_Mutation_p.G494C|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.G494C|WIPF1_ENST00000359761.3_Missense_Mutation_p.G494C|AC018890.6_ENST00000412835.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	494					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGTGGAGCACCCCTTTCTCTT	0.478																																					p.G494C		.											.	WIPF1-92	0			c.G1480T						.						115.0	108.0	110.0					2																	175427307		2203	4300	6503	SO:0001583	missense	7456	exon8			GAGCACCCCTTTC	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.1480G>T	2.37:g.175427307C>A	ENSP00000376330:p.Gly494Cys	173	0		147	84	NM_003387	0	0	1	1	0	B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909180	0.72868	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546	T;T;T;T	0.54071	0.59;0.71;0.59;0.59	5.1	5.1	0.69264	.	0.050858	0.85682	D	0.000000	T	0.74183	0.3683	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78178	-0.2305	10	0.87932	D	0	.	16.3752	0.83383	0.0:1.0:0.0:0.0	.	494;494	O43516-3;O43516	.;WIPF1_HUMAN	C	494;350;494;494;494	ENSP00000376330:G494C;ENSP00000272746:G494C;ENSP00000352802:G494C;ENSP00000376329:G494C	ENSP00000272746:G494C	G	-	1	0	WIPF1	175135553	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.528000	0.60580	2.517000	0.84864	0.655000	0.94253	GGT	.		0.478	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179477034	179477034	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:179477034C>A	ENST00000591111.1	-	216	45519	c.45295G>T	c.(45295-45297)Gag>Tag	p.E15099*	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E7800*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E7675*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E16740*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E14172*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E7867*			Q8WZ42	TITIN_HUMAN	titin	15099	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGAGTCCTCAATTTCGGTG	0.448																																					p.E16740X		.											.	TTN-636	0			c.G50218T						.						78.0	77.0	77.0					2																	179477034		1942	4145	6087	SO:0001587	stop_gained	7273	exon266			AGTCCTCAATTTC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45295G>T	2.37:g.179477034C>A	ENSP00000465570:p.Glu15099*	133	0		89	20	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	59	38.082893	0.99984	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.85	0.96736	0.0:1.0:0.0:0.0	.	.	.	.	X	14172;7675;7867;7800;7675	.	ENSP00000340554:E7867X	E	-	1	0	TTN	179185279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.005000	0.70716	2.697000	0.92050	0.563000	0.77884	GAG	.		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	bcgsc.ca	37	2	179482553	179482553	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:179482553C>A	ENST00000591111.1	-	203	42826	c.42602G>T	c.(42601-42603)gGa>gTa	p.G14201V	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G6902V|TTN_ENST00000460472.2_Missense_Mutation_p.G6777V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G15842V|TTN_ENST00000342992.6_Missense_Mutation_p.G13274V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342175.6_Missense_Mutation_p.G6969V			Q8WZ42	TITIN_HUMAN	titin	14201	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTGGTTTTCCAACTCCAAT	0.443																																					p.G15842V		.											.	TTN-636	0			c.G47525T						.						153.0	145.0	147.0					2																	179482553		1955	4158	6113	SO:0001583	missense	7273	exon253			GGTTTTCCAACTC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42602G>T	2.37:g.179482553C>A	ENSP00000465570:p.Gly14201Val	421	5		286	59	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	13.66	2.304376	0.40795	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.63	5.63	0.86233	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86335	0.5908	H	0.95328	3.655	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.89552	0.3800	9	0.87932	D	0	.	20.0572	0.97657	0.0:1.0:0.0:0.0	.	6777;6902;6969;14201	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	13274;6777;6969;6902;6777	ENSP00000343764:G13274V;ENSP00000434586:G6777V;ENSP00000340554:G6969V;ENSP00000352154:G6902V	ENSP00000340554:G6969V	G	-	2	0	TTN	179190798	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.729000	0.84864	2.826000	0.97356	0.655000	0.94253	GGA	.		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ITGA4	3676	broad.mit.edu;bcgsc.ca	37	2	182360586	182360586	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:182360586G>T	ENST00000397033.2	+	14	1892	c.1462G>T	c.(1462-1464)Gaa>Taa	p.E488*		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	488					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TGACTGTGTTGAAAATGGATG	0.393																																					p.E488X		.											.	ITGA4-230	0			c.G1462T						.						184.0	165.0	171.0					2																	182360586		1912	4133	6045	SO:0001587	stop_gained	3676	exon14			TGTGTTGAAAATG		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1462G>T	2.37:g.182360586G>T	ENSP00000380227:p.Glu488*	273	0		212	9	NM_000885	0	0	0	0	0	D3DPG4|Q7Z4L6	Nonsense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	38	6.781196	0.97833	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	.	.	.	5.8	5.8	0.92144	.	0.048258	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	15.6414	0.77006	0.0:0.0:0.8621:0.1379	.	.	.	.	X	488	.	ENSP00000233573:E488X	E	+	1	0	ITGA4	182068831	1.000000	0.71417	0.970000	0.41538	0.991000	0.79684	5.350000	0.66016	2.741000	0.93983	0.650000	0.86243	GAA	.		0.393	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		
ITGA4	3676	broad.mit.edu;bcgsc.ca	37	2	182399023	182399023	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:182399023G>T	ENST00000397033.2	+	26	3239	c.2809G>T	c.(2809-2811)Gaa>Taa	p.E937*		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	937					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	ACTCAAGTTTGAAATAAGAGC	0.358																																					p.E937X		.											.	ITGA4-230	0			c.G2809T						.						72.0	64.0	67.0					2																	182399023		1827	4087	5914	SO:0001587	stop_gained	3676	exon26			AAGTTTGAAATAA		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.2809G>T	2.37:g.182399023G>T	ENSP00000380227:p.Glu937*	331	1		258	19	NM_000885	0	0	1	1	0	D3DPG4|Q7Z4L6	Nonsense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	42	9.748396	0.99253	.	.	ENSG00000115232	ENST00000397033	.	.	.	5.96	5.03	0.67393	.	0.631995	0.18155	N	0.149979	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	14.3547	0.66730	0.0:0.0:0.8523:0.1476	.	.	.	.	X	937	.	ENSP00000380227:E937X	E	+	1	0	ITGA4	182107268	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	4.285000	0.58989	2.826000	0.97356	0.655000	0.94253	GAA	.		0.358	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		
ZNF804A	91752	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	185803043	185803043	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:185803043G>T	ENST00000302277.6	+	4	3514	c.2920G>T	c.(2920-2922)Gaa>Taa	p.E974*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	974							metal ion binding (GO:0046872)	p.E974K(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTGCCATTATGAACTGGCTGA	0.388																																					p.E974X		.											.	ZNF804A-163	1	Substitution - Missense(1)	large_intestine(1)	c.G2920T						.						97.0	93.0	94.0					2																	185803043		2203	4300	6503	SO:0001587	stop_gained	91752	exon4			CATTATGAACTGG	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2920G>T	2.37:g.185803043G>T	ENSP00000303252:p.Glu974*	112	1		103	24	NM_194250	0	0	0	0	0	A7E253|Q6ZN26	Nonsense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	43	10.013329	0.99317	.	.	ENSG00000170396	ENST00000302277	.	.	.	5.14	5.14	0.70334	.	0.000000	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-22.4909	15.7582	0.78054	0.0:0.0:1.0:0.0	.	.	.	.	X	974	.	ENSP00000303252:E974X	E	+	1	0	ZNF804A	185511288	1.000000	0.71417	0.998000	0.56505	0.631000	0.37964	6.349000	0.73013	2.377000	0.81083	0.467000	0.42956	GAA	.		0.388	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
CALCRL	10203	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	188250272	188250272	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:188250272C>A	ENST00000409998.1	-	5	832	c.51G>T	c.(49-51)atG>atT	p.M17I	CALCRL_ENST00000392370.3_Splice_Site_p.M17I|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Splice_Site_p.M17I|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	17					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TTATGCTTACCATAAAAAAAG	0.274																																					p.M17I		.											.	CALCRL-523	0			c.G51T						.						30.0	32.0	32.0					2																	188250272		2195	4261	6456	SO:0001630	splice_region_variant	10203	exon3			GCTTACCATAAAA	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.51+1G>T	2.37:g.188250272C>A		137	2		95	45	NM_001271751	0	0	0	0	0	A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	C	9.450	1.090209	0.20390	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068;ENST00000447403;ENST00000410102	T;T;T;T;T	0.52983	1.1;1.1;1.1;1.63;0.64	5.81	4.93	0.64822	.	0.081732	0.48286	D	0.000198	T	0.24851	0.0603	N	0.08118	0	0.27052	N	0.963765	B	0.16396	0.017	B	0.10450	0.005	T	0.09552	-1.0669	9	.	.	.	.	9.8203	0.40878	0.0:0.909:0.0:0.091	.	17	Q16602	CALRL_HUMAN	I	17	ENSP00000376177:M17I;ENSP00000386972:M17I;ENSP00000387190:M17I;ENSP00000415626:M17I;ENSP00000386599:M17I	.	M	-	3	0	CALCRL	187958517	1.000000	0.71417	0.995000	0.50966	0.463000	0.32649	2.672000	0.46850	2.759000	0.94783	0.591000	0.81541	ATG	.		0.274	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795	Missense_Mutation
COL5A2	1290	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	189917495	189917495	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:189917495G>T	ENST00000374866.3	-	40	2969	c.2695C>A	c.(2695-2697)Cga>Aga	p.R899R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	899					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGGGTTCCTCGACCACCTTTT	0.413																																					p.R899R		.											.	COL5A2-92	0			c.C2695A						.						85.0	87.0	86.0					2																	189917495		2203	4300	6503	SO:0001819	synonymous_variant	1290	exon40			TTCCTCGACCACC	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2695C>A	2.37:g.189917495G>T		202	1		163	80	NM_000393	0	0	3	3	0	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	CCDS33350.1																																																																																			.		0.413	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	
CCDC150	284992	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	197541324	197541324	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:197541324G>T	ENST00000389175.4	+	12	1444	c.1309G>T	c.(1309-1311)Gat>Tat	p.D437Y	CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000423093.2_Missense_Mutation_p.D105Y|CCDC150_ENST00000272831.7_Missense_Mutation_p.D105Y	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	437										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAAAGCACAGGATGCTGAAAA	0.388																																					p.D437Y		.											.	.	0			c.G1309T						.						75.0	72.0	73.0					2																	197541324		1862	4109	5971	SO:0001583	missense	284992	exon12			GCACAGGATGCTG		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1309G>T	2.37:g.197541324G>T	ENSP00000373827:p.Asp437Tyr	211	0		172	74	NM_001080539	0	0	0	0	0	Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307205	0.23821	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000423093	T	0.47869	0.83	5.22	4.32	0.51571	.	0.717506	0.12994	N	0.422258	T	0.38799	0.1054	N	0.22421	0.69	0.31523	N	0.662093	P;P	0.41848	0.763;0.763	B;B	0.44224	0.444;0.444	T	0.44298	-0.9337	10	0.66056	D	0.02	-2.6043	9.9499	0.41631	0.0943:0.0:0.9057:0.0	.	105;437	B4DZ03;Q8NCX0	.;CC150_HUMAN	Y	105;437;105	ENSP00000373827:D437Y	ENSP00000272831:D105Y	D	+	1	0	CCDC150	197249569	0.020000	0.18652	0.940000	0.37924	0.280000	0.26924	1.447000	0.35101	2.717000	0.92951	0.563000	0.77884	GAT	.		0.388	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539	
SGOL2	151246	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	201397779	201397779	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:201397779G>T	ENST00000357799.4	+	2	179	c.81G>T	c.(79-81)aaG>aaT	p.K27N	SGOL2_ENST00000409203.3_Missense_Mutation_p.K27N	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	27					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GAATTTCAAAGACTACTAAGT	0.328																																					p.K27N		.											.	SGOL2-94	0			c.G81T						.						62.0	63.0	62.0					2																	201397779		1791	4060	5851	SO:0001583	missense	151246	exon2			TTCAAAGACTACT	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.81G>T	2.37:g.201397779G>T	ENSP00000350447:p.Lys27Asn	191	1		120	49	NM_001160046	0	0	0	0	0	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429514	0.62844	.	.	ENSG00000163535	ENST00000418045;ENST00000357799;ENST00000409203	T;T;T	0.64260	-0.09;-0.09;-0.09	5.84	0.354	0.16063	.	0.000000	0.53938	D	0.000046	T	0.69878	0.3160	M	0.66939	2.045	0.18873	N	0.999984	D;D;D;D	0.67145	0.996;0.996;0.996;0.959	D;D;D;P	0.64410	0.925;0.925;0.925;0.647	T	0.60581	-0.7235	10	0.87932	D	0	-8.3524	7.5575	0.27833	0.6447:0.0:0.3553:0.0	.	27;27;27;27	B7Z7S9;Q562F6-2;Q562F6;Q562F6-3	.;.;SGOL2_HUMAN;.	N	27	ENSP00000393325:K27N;ENSP00000350447:K27N;ENSP00000386249:K27N	ENSP00000350447:K27N	K	+	3	2	SGOL2	201106024	0.965000	0.33210	0.666000	0.29783	0.998000	0.95712	0.669000	0.25142	0.120000	0.18254	0.655000	0.94253	AAG	.		0.328	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524	
CFLAR	8837	ucsc.edu;bcgsc.ca	37	2	201994606	201994606	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:201994606C>A	ENST00000309955.3	+	2	533	c.18C>A	c.(16-18)atC>atA	p.I6I	CFLAR_ENST00000341222.6_Silent_p.I6I|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000440180.1_Silent_p.I6I|CFLAR_ENST00000355558.4_Silent_p.I6I|CFLAR_ENST00000395148.2_Silent_p.I6I|CFLAR_ENST00000423241.2_Silent_p.I6I|CFLAR_ENST00000341582.6_Silent_p.I6I|CFLAR_ENST00000494258.1_5'Flank|CFLAR_ENST00000340870.5_Silent_p.I6I|CFLAR_ENST00000342795.5_Silent_p.I6I|CFLAR_ENST00000457277.1_Silent_p.I6I	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	6	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CTGAAGTCATCCATCAGGTTG	0.498																																					p.I6I	Pancreas(16;548 657 22190 32864 42338)	.											.	CFLAR-227	0			c.C18A						.						168.0	165.0	166.0					2																	201994606		2203	4300	6503	SO:0001819	synonymous_variant	8837	exon2			AGTCATCCATCAG	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.18C>A	2.37:g.201994606C>A		160	3		159	80	NM_001202516	0	0	4	6	2	B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Silent	SNP	ENST00000309955.3	37	CCDS2337.1																																																																																			.		0.498	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879	
INO80D	54891	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	206869265	206869265	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:206869265G>T	ENST00000403263.1	-	11	3315	c.2911C>A	c.(2911-2913)Caa>Aaa	p.Q971K		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	0					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TGAGGGAGTTGCTGCTTGGGA	0.597																																					p.Q971K		.											.	INO80D-91	0			c.C2911A						.						44.0	49.0	48.0					2																	206869265		2080	4227	6307	SO:0001583	missense	54891	exon11			GGAGTTGCTGCTT		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2911C>A	2.37:g.206869265G>T	ENSP00000384198:p.Gln971Lys	131	0		99	10	NM_017759	0	0	0	0	0	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421931	0.62622	.	.	ENSG00000114933	ENST00000403263	T	0.43294	0.95	5.84	4.97	0.65823	.	.	.	.	.	T	0.49795	0.1578	N	0.24115	0.695	0.53005	D	0.999961	D	0.61080	0.989	D	0.70487	0.969	T	0.51896	-0.8647	9	0.48119	T	0.1	.	14.9243	0.70866	0.0683:0.0:0.9317:0.0	.	971	Q53TQ3-2	.	K	971	ENSP00000384198:Q971K	ENSP00000384198:Q971K	Q	-	1	0	INO80D	206577510	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	9.230000	0.95299	1.479000	0.48272	-0.136000	0.14681	CAA	.		0.597	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759	
ZDBF2	57683	broad.mit.edu	37	2	207174885	207174885	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:207174885delG	ENST00000374423.3	+	5	6019	c.5633delG	c.(5632-5634)tggfs	p.W1878fs		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1878							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAGGTTACCTGGGCTGACTTG	0.438																																					p.W1878fs		.											.	ZDBF2-3	0			c.5633delG						.						55.0	54.0	55.0					2																	207174885		1965	4151	6116	SO:0001589	frameshift_variant	57683	exon5			TTACCTGGGCTGA	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5633delG	2.37:g.207174885delG	ENSP00000363545:p.Trp1878fs	89	0		76	10	NM_020923	0	0	0	0	0	Q6ZNP7|Q6ZSN8	Frame_Shift_Del	DEL	ENST00000374423.3	37	CCDS46501.1																																																																																			.		0.438	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
KLF7	8609	bcgsc.ca	37	2	207988945	207988945	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:207988945C>A	ENST00000309446.6	-	2	662	c.286G>T	c.(286-288)Gac>Tac	p.D96Y	KLF7_ENST00000423015.1_Missense_Mutation_p.D96Y|KLF7-IT1_ENST00000428777.1_RNA|KLF7_ENST00000412414.2_Missense_Mutation_p.D68Y|KLF7_ENST00000421199.1_Missense_Mutation_p.D63Y|KLF7_ENST00000467833.1_Intron|KLF7_ENST00000458272.1_Intron	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	96					axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		AGCAAGATGTCCACTGCCGAG	0.612																																					p.D96Y		.											.	KLF7-91	0			c.G286T						.						44.0	45.0	45.0					2																	207988945		2203	4300	6503	SO:0001583	missense	8609	exon2			AGATGTCCACTGC	AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.286G>T	2.37:g.207988945C>A	ENSP00000309570:p.Asp96Tyr	172	6		165	53	NM_003709	0	0	1	2	1	B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	Missense_Mutation	SNP	ENST00000309446.6	37	CCDS2373.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414997	0.25552	.	.	ENSG00000118263	ENST00000309446;ENST00000421199;ENST00000423015;ENST00000412414;ENST00000435602;ENST00000426163	T;T;T	0.06449	3.3;3.34;3.33	5.91	5.91	0.95273	.	0.088733	0.85682	D	0.000000	T	0.18676	0.0448	L	0.60455	1.87	0.50313	D	0.999864	D;D;P	0.60160	0.976;0.987;0.952	P;P;B	0.55303	0.648;0.773;0.395	T	0.00020	-1.2356	10	0.44086	T	0.13	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	68;96;96	B7Z4F7;Q96E51;O75840	.;.;KLF7_HUMAN	Y	96;63;96;68;68;96	ENSP00000309570:D96Y;ENSP00000387510:D63Y;ENSP00000403284:D68Y	ENSP00000309570:D96Y	D	-	1	0	KLF7	207697190	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	3.614000	0.54160	2.813000	0.96785	0.655000	0.94253	GAC	.		0.612	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256466.2	NM_003709	
TTLL4	9654	broad.mit.edu	37	2	219602615	219602615	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:219602615G>T	ENST00000392102.1	+	3	556	c.216G>T	c.(214-216)ttG>ttT	p.L72F	TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000258398.4_Missense_Mutation_p.L72F|TTLL4_ENST00000442769.1_Missense_Mutation_p.L72F	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	72					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CAGGCCTCTTGGGCGTCCCAC	0.567																																					p.L72F	GBM(172;1818 2053 15407 20943 49753)	.											.	TTLL4-93	0			c.G216T						.						91.0	94.0	93.0					2																	219602615		2203	4300	6503	SO:0001583	missense	9654	exon3			CCTCTTGGGCGTC		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.216G>T	2.37:g.219602615G>T	ENSP00000375951:p.Leu72Phe	195	0		153	4	NM_014640	0	0	2	2	0	A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	G	1.693	-0.503614	0.04261	.	.	ENSG00000135912	ENST00000415717;ENST00000392102;ENST00000437755;ENST00000442769;ENST00000424644;ENST00000258398	T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71	5.34	2.58	0.30949	.	0.805608	0.10413	N	0.677670	T	0.24967	0.0606	L	0.34521	1.04	0.09310	N	1	P;P	0.48911	0.917;0.917	P;P	0.47470	0.548;0.451	T	0.12268	-1.0554	10	0.72032	D	0.01	.	7.3894	0.26901	0.359:0.0:0.641:0.0	.	72;72	E7EX20;Q14679	.;TTLL4_HUMAN	F	72	ENSP00000411228:L72F;ENSP00000375951:L72F;ENSP00000391342:L72F;ENSP00000396555:L72F;ENSP00000405485:L72F;ENSP00000258398:L72F	ENSP00000258398:L72F	L	+	3	2	TTLL4	219310859	0.980000	0.34600	0.003000	0.11579	0.019000	0.09904	0.561000	0.23515	0.252000	0.21531	0.563000	0.77884	TTG	.		0.567	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640	
ACSL3	2181	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	223773830	223773830	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:223773830G>T	ENST00000357430.3	+	4	871	c.340G>T	c.(340-342)Gaa>Taa	p.E114*	ACSL3_ENST00000392066.3_Nonsense_Mutation_p.E114*	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	114					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTAAATGAGGAAGATGAAGT	0.284			T	ETV1	prostate																																p.E114X		.		Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	.	ACSL3-228	0			c.G340T						.						45.0	47.0	46.0					2																	223773830		2197	4295	6492	SO:0001587	stop_gained	2181	exon3			AATGAGGAAGATG	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.340G>T	2.37:g.223773830G>T	ENSP00000350012:p.Glu114*	66	0		45	11	NM_203372	0	0	13	13	0	Q60I92|Q8IUM9	Nonsense_Mutation	SNP	ENST00000357430.3	37	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	40	8.340686	0.98767	.	.	ENSG00000123983	ENST00000357430;ENST00000392066	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.2312	17.8436	0.88722	0.0:0.0:1.0:0.0	.	.	.	.	X	114	.	ENSP00000350012:E114X	E	+	1	0	ACSL3	223482074	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.263000	0.95617	2.451000	0.82905	0.591000	0.81541	GAA	.		0.284	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457	
DAW1	164781	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	228770995	228770995	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:228770995G>A	ENST00000309931.2	+	9	882	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	DAW1_ENST00000373666.2_Missense_Mutation_p.A267T|DAW1_ENST00000545118.1_Missense_Mutation_p.A252T	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	267						cilium (GO:0005929)											GATTAGCAGTGCCTCATTCAA	0.323																																					p.A267T		.											.	.	0			c.G799A						.						170.0	173.0	172.0					2																	228770995		2203	4299	6502	SO:0001583	missense	164781	exon9			AGCAGTGCCTCAT		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.799G>A	2.37:g.228770995G>A	ENSP00000311899:p.Ala267Thr	65	0		36	5	NM_178821	0	0	0	0	0	Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093060	0.36952	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	T;T;T	0.60548	0.18;0.18;0.18	5.63	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.444435	0.25089	N	0.033237	T	0.54319	0.1851	L	0.45285	1.41	0.44927	D	0.997948	B	0.22080	0.064	B	0.31869	0.137	T	0.52335	-0.8589	10	0.45353	T	0.12	.	14.457	0.67423	0.0:0.0:0.8516:0.1484	.	267	Q8N136	WDR69_HUMAN	T	267;267;252	ENSP00000362770:A267T;ENSP00000311899:A267T;ENSP00000437887:A252T	ENSP00000311899:A267T	A	+	1	0	WDR69	228479239	1.000000	0.71417	0.596000	0.28811	0.767000	0.43475	3.685000	0.54678	1.343000	0.45638	0.313000	0.20887	GCC	.		0.323	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821	
SP140	11262	ucsc.edu;bcgsc.ca	37	2	231155258	231155258	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:231155258C>A	ENST00000392045.3	+	19	1918	c.1804C>A	c.(1804-1806)Cat>Aat	p.H602N	SP140_ENST00000486687.2_Missense_Mutation_p.H526N|SP140_ENST00000350136.5_Missense_Mutation_p.H471N|SP140_ENST00000417495.3_Missense_Mutation_p.H488N|SP140_ENST00000420434.3_Missense_Mutation_p.H575N|SP140_ENST00000343805.6_Missense_Mutation_p.H542N	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	602	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGGAATTTTACATAAGAAGAA	0.403																																					p.H602N		.											.	SP140-90	0			c.C1804A						.						148.0	141.0	143.0					2																	231155258		1875	4105	5980	SO:0001583	missense	11262	exon19			ATTTTACATAAGA	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1804C>A	2.37:g.231155258C>A	ENSP00000375899:p.His602Asn	162	3		110	20	NM_007237	0	0	1	1	0	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064246	0.36373	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	3.06	-3.29	0.05017	SAND domain-like (2);SAND domain (3);	.	.	.	.	T	0.67813	0.2933	M	0.71206	2.165	0.09310	N	0.999998	D;D;D;P	0.63880	0.993;0.963;0.978;0.625	P;B;P;B	0.57620	0.824;0.346;0.647;0.308	T	0.61554	-0.7039	9	0.52906	T	0.07	-0.7433	7.7449	0.28862	0.0:0.4572:0.0:0.5428	.	575;488;542;602	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	N	526;471;602;488;542;575	ENSP00000440107:H526N;ENSP00000345846:H471N;ENSP00000375899:H602N;ENSP00000342096:H542N;ENSP00000398210:H575N	ENSP00000342096:H542N	H	+	1	0	SP140	230863502	0.000000	0.05858	0.007000	0.13788	0.225000	0.24961	-2.224000	0.01213	-0.760000	0.04677	0.456000	0.33151	CAT	.		0.403	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237	
EIF4E2	9470	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	233431658	233431658	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:233431658G>T	ENST00000258416.3	+	5	1168	c.495G>T	c.(493-495)gaG>gaT	p.E165D	EIF4E2_ENST00000409098.1_Missense_Mutation_p.E165D|EIF4E2_ENST00000409495.1_Missense_Mutation_p.E165D|EIF4E2_ENST00000409514.1_Missense_Mutation_p.E165D|EIF4E2_ENST00000409322.1_Missense_Mutation_p.E120D|EIF4E2_ENST00000409394.1_Missense_Mutation_p.E120D|EIF4E2_ENST00000409167.3_Missense_Mutation_p.E120D	NM_004846.2	NP_004837.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	165					cytokine-mediated signaling pathway (GO:0019221)|in utero embryonic development (GO:0001701)|negative regulation of translation (GO:0017148)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTGGGGAGGAGATCTGTGGGG	0.572																																					p.E165D		.											.	EIF4E2-90	0			c.G495T						.						102.0	103.0	103.0					2																	233431658		2203	4300	6503	SO:0001583	missense	9470	exon5			GGAGGAGATCTGT	AF038957	CCDS2496.1, CCDS63158.1, CCDS63159.1, CCDS74671.1	2q37.1	2008-02-05	2006-11-13	2004-10-30	ENSG00000135930	ENSG00000135930			3293	protein-coding gene	gene with protein product		605895	"""eukaryotic translation initiation factor 4E-like 3"""	EIF4EL3		9653160, 9582349	Standard	XM_005246975		Approved	IF4e, 4EHP	uc002vta.3	O60573	OTTHUMG00000133256	ENST00000258416.3:c.495G>T	2.37:g.233431658G>T	ENSP00000258416:p.Glu165Asp	82	0		65	36	NM_004846	0	0	22	51	29	B8ZZJ9|O75349	Missense_Mutation	SNP	ENST00000258416.3	37	CCDS2496.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068369	0.55539	.	.	ENSG00000135930	ENST00000258416;ENST00000409514;ENST00000409098;ENST00000409495;ENST00000409167;ENST00000409322;ENST00000409394;ENST00000454501	T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.64	5.64	0.86602	Translation Initiation factor eIF- 4e-like  domain (2);	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	M	0.66939	2.045	0.58432	D	0.999999	D;D;B	0.69078	0.99;0.997;0.043	D;D;B	0.71656	0.957;0.974;0.245	T	0.58177	-0.7682	10	0.41790	T	0.15	-23.0613	17.243	0.87019	0.0:0.0:1.0:0.0	.	120;165;165	B4E1E4;B8ZZJ9;O60573	.;.;IF4E2_HUMAN	D	165;165;165;165;120;120;120;160	ENSP00000258416:E165D;ENSP00000387336:E165D;ENSP00000386996:E165D;ENSP00000386876:E165D;ENSP00000387328:E120D;ENSP00000386424:E120D;ENSP00000386983:E120D;ENSP00000390904:E160D	ENSP00000258416:E165D	E	+	3	2	EIF4E2	233139902	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.846000	0.55888	2.937000	0.99478	0.650000	0.86243	GAG	.		0.572	EIF4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257033.2	NM_004846	
DGKD	8527	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	234344974	234344974	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:234344974C>A	ENST00000264057.2	+	7	718	c.706C>A	c.(706-708)Cac>Aac	p.H236N	DGKD_ENST00000409813.3_Missense_Mutation_p.H192N	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	236					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGCAATGCCCCACCAGTGGTT	0.592																																					p.H236N		.											.	DGKD-676	0			c.C706A						.						171.0	130.0	143.0					2																	234344974		2203	4300	6503	SO:0001583	missense	8527	exon7			ATGCCCCACCAGT	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.706C>A	2.37:g.234344974C>A	ENSP00000264057:p.His236Asn	123	1		126	47	NM_152879	0	0	0	0	0	Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031802	0.75504	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	D;D	0.99716	-6.51;-6.51	4.34	4.34	0.51931	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.137133	0.46758	D	0.000261	D	0.99837	0.9926	H	0.97214	3.96	0.80722	D	1	D;D;P	0.71674	0.998;0.996;0.562	D;D;P	0.77557	0.99;0.986;0.516	D	0.96489	0.9362	10	0.87932	D	0	.	17.4473	0.87581	0.0:1.0:0.0:0.0	.	120;192;236	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	N	236;192	ENSP00000264057:H236N;ENSP00000386455:H192N	ENSP00000264057:H236N	H	+	1	0	DGKD	234009713	1.000000	0.71417	0.954000	0.39281	0.536000	0.34869	7.278000	0.78587	2.432000	0.82394	0.655000	0.94253	CAC	.		0.592	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	
UGT1A3	54659	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	234638397	234638397	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:234638397C>A	ENST00000482026.1	+	1	644	c.625C>A	c.(625-627)Caa>Aaa	p.Q209K	UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.Q209K|UGT1A10_ENST00000373445.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000344644.5_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	209					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	GACATTCATGCAAAGGGTCAA	0.443																																					p.Q209K		.											.	UGT1A3-24	0			c.C625A						.						239.0	225.0	230.0					2																	234638397		2203	4300	6503	SO:0001583	missense	54659	exon1			TTCATGCAAAGGG	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.625C>A	2.37:g.234638397C>A	ENSP00000418532:p.Gln209Lys	284	0		215	50	NM_019093	0	0	0	0	0	B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	c	17.39	3.377797	0.61735	.	.	ENSG00000243135	ENST00000482026	T	0.60424	0.19	3.98	0.736	0.18307	.	.	.	.	.	T	0.75939	0.3918	M	0.91140	3.18	0.35864	D	0.827742	P;P	0.46578	0.88;0.88	P;P	0.56216	0.794;0.794	D	0.84783	0.0774	9	0.87932	D	0	.	14.4729	0.67529	0.0:0.5818:0.4182:0.0	.	209;209	Q5DT01;P35503	.;UD13_HUMAN	K	209	ENSP00000418532:Q209K	ENSP00000418532:Q209K	Q	+	1	0	UGT1A3	234303136	0.024000	0.19004	0.891000	0.34965	0.769000	0.43574	0.412000	0.21131	0.131000	0.18576	0.585000	0.79938	CAA	.		0.443	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093	
COL6A3	1293	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	238275811	238275811	+	Silent	SNP	G	G	A	rs140516220		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:238275811G>A	ENST00000295550.4	-	11	5471	c.5019C>T	c.(5017-5019)ggC>ggT	p.G1673G	COL6A3_ENST00000346358.4_Silent_p.G1473G|COL6A3_ENST00000353578.4_Silent_p.G1467G|COL6A3_ENST00000409809.1_Silent_p.G1467G|COL6A3_ENST00000472056.1_Silent_p.G1066G|COL6A3_ENST00000347401.3_Silent_p.G1472G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1673	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGATGGAGTCGCCATCTTCAT	0.473																																					p.G1673G		.											.	COL6A3-526	0			c.C5019T						.	G	,,	0,4406		0,0,2203	77.0	67.0	70.0		5019,3198,4401	-11.0	0.0	2	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	1673/3178,1066/2571,1467/2972	238275811	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1293	exon11			GGAGTCGCCATCT	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5019C>T	2.37:g.238275811G>A		145	1		109	19	NM_004369	0	0	1	1	0	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																			G|1.000;A|0.000		0.473	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
UBOX5	22888	broad.mit.edu;bcgsc.ca	37	20	3090889	3090889	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:3090889C>A	ENST00000217173.2	-	5	1960	c.1489G>T	c.(1489-1491)Gag>Tag	p.E497*	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5-AS1_ENST00000454019.1_RNA|UBOX5_ENST00000348031.2_Nonsense_Mutation_p.E443*	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						TACACCGGCTCCTTTTTGAAG	0.607																																					p.E497X		.											.	UBOX5-227	0			c.G1489T						.						69.0	79.0	76.0					20																	3090889		2203	4300	6503	SO:0001587	stop_gained	22888	exon5			CCGGCTCCTTTTT	AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.1489G>T	20.37:g.3090889C>A	ENSP00000217173:p.Glu497*	84	2		106	40	NM_014948	0	0	14	21	7		Nonsense_Mutation	SNP	ENST00000217173.2	37	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	C	42	9.644345	0.99227	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	.	.	.	5.04	5.04	0.67666	.	0.195087	0.43110	U	0.000604	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-11.3893	18.7495	0.91809	0.0:1.0:0.0:0.0	.	.	.	.	X	497;443	.	ENSP00000217173:E497X	E	-	1	0	UBOX5	3038889	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	4.788000	0.62439	2.497000	0.84241	0.561000	0.74099	GAG	.		0.607	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948	
ADAM33	80332	broad.mit.edu;bcgsc.ca	37	20	3654768	3654768	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:3654768G>T	ENST00000356518.2	-	8	922	c.681C>A	c.(679-681)caC>caA	p.H227Q	ADAM33_ENST00000350009.2_Missense_Mutation_p.H227Q|ADAM33_ENST00000379861.4_Missense_Mutation_p.H227Q|ADAM33_ENST00000466620.1_5'Flank	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	227	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TCAAGTTTCGGTGCCGAGTCA	0.652																																					p.H227Q		.											.	ADAM33-291	0			c.C681A						.						97.0	101.0	100.0					20																	3654768		2203	4300	6503	SO:0001583	missense	80332	exon8			GTTTCGGTGCCGA	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.681C>A	20.37:g.3654768G>T	ENSP00000348912:p.His227Gln	175	1		160	7	NM_025220	0	0	0	0	0	A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	G	2.699	-0.271302	0.05716	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000360630;ENST00000439201;ENST00000322570	T;T;T	0.16196	2.36;2.36;2.36	5.84	-1.18	0.09617	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.07458	0.0188	N	0.11560	0.145	0.09310	N	1	B;B;B;B;B;B	0.20261	0.043;0.002;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.27380	0.079;0.005;0.005;0.001;0.001;0.001	T	0.44967	-0.9293	9	0.14252	T	0.57	.	4.8959	0.13749	0.1615:0.0919:0.5452:0.2014	.	227;239;150;227;227;227	B4DTZ3;B4E1Y6;Q7Z7E1;Q9BZ11-2;Q9BZ11;A2A2L3	.;.;.;.;ADA33_HUMAN;.	Q	227;227;227;150;227;150	ENSP00000348912:H227Q;ENSP00000369190:H227Q;ENSP00000322550:H227Q	ENSP00000318839:H150Q	H	-	3	2	ADAM33	3602768	0.000000	0.05858	0.150000	0.22450	0.069000	0.16628	0.043000	0.13971	-0.245000	0.09625	-3.056000	0.00068	CAC	.		0.652	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220	
SEC23B	10483	ucsc.edu;bcgsc.ca	37	20	18491542	18491542	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:18491542G>T	ENST00000336714.3	+	2	495	c.63G>T	c.(61-63)tgG>tgT	p.W21C	SEC23B_ENST00000377475.3_Missense_Mutation_p.W21C|SEC23B_ENST00000262544.2_Missense_Mutation_p.W21C|SEC23B_ENST00000377465.1_Missense_Mutation_p.W21C	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	21					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GTTTTAGTTGGAACGTGTGGC	0.478																																					p.W21C		.											.	SEC23B-91	0			c.G63T						.						168.0	147.0	154.0					20																	18491542		2203	4300	6503	SO:0001583	missense	10483	exon2			TAGTTGGAACGTG	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.63G>T	20.37:g.18491542G>T	ENSP00000338844:p.Trp21Cys	301	5		213	46	NM_006363	1	0	11	15	3	D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646144	0.87958	.	.	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.97037	0.9032	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97797	1.0242	10	0.87932	D	0	-9.109	17.6495	0.88159	0.0:0.0:1.0:0.0	.	21;21	B4DJW8;Q15437	.;SC23B_HUMAN	C	21	ENSP00000403971:W21C;ENSP00000338844:W21C;ENSP00000262544:W21C;ENSP00000366695:W21C;ENSP00000366685:W21C	ENSP00000262544:W21C	W	+	3	0	SEC23B	18439542	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.601000	0.98297	2.657000	0.90304	0.655000	0.94253	TGG	.		0.478	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5		
CST9	128822	broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	23584241	23584241	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:23584241C>A	ENST00000376971.3	-	2	397	c.386G>T	c.(385-387)aGc>aTc	p.S129I		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	129						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					CTGAGGAAAGCTGATGCCCTG	0.527																																					p.S129I		.											.	CST9-91	0			c.G386T						.						186.0	156.0	166.0					20																	23584241		2203	4300	6503	SO:0001583	missense	128822	exon2			GGAAAGCTGATGC	AF494536	CCDS33450.1	20p11.21	2012-08-14			ENSG00000173335	ENSG00000173335			13261	protein-coding gene	gene with protein product						20565543	Standard	NM_001008693		Approved	CLM, CTES7A	uc002wtl.3	Q5W186	OTTHUMG00000032076	ENST00000376971.3:c.386G>T	20.37:g.23584241C>A	ENSP00000366170:p.Ser129Ile	205	1		170	34	NM_001008693	0	0	0	0	0	B2RP76|Q8TD53	Missense_Mutation	SNP	ENST00000376971.3	37	CCDS33450.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790235	0.31685	.	.	ENSG00000173335	ENST00000376971	D	0.90385	-2.66	1.95	-2.86	0.05717	.	0.688080	0.12032	N	0.505907	T	0.69726	0.3143	N	0.08118	0	0.09310	N	1	P	0.44380	0.834	B	0.27500	0.08	T	0.67078	-0.5761	10	0.87932	D	0	.	3.0953	0.06307	0.0:0.354:0.2253:0.4207	.	129	Q5W186	CST9_HUMAN	I	129	ENSP00000366170:S129I	ENSP00000366170:S129I	S	-	2	0	CST9	23532241	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.435000	0.06931	-0.709000	0.05008	-0.258000	0.10820	AGC	.		0.527	CST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078341.1	NM_001008693.1	
NECAB3	63941	broad.mit.edu	37	20	32248098	32248098	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:32248098G>T	ENST00000246190.6	-	6	546	c.491C>A	c.(490-492)tCa>tAa	p.S164*	C20orf144_ENST00000375222.3_5'Flank|NECAB3_ENST00000375238.4_Nonsense_Mutation_p.S164*|NECAB3_ENST00000606525.1_5'UTR|RP1-63M2.6_ENST00000607224.1_RNA	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	164					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						CAGGGTATCTGACGCCCCCTC	0.617																																					p.S164X		.											.	NECAB3-91	0			c.C491A						.						48.0	54.0	52.0					20																	32248098		2032	4189	6221	SO:0001587	stop_gained	63941	exon6			GTATCTGACGCCC	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	15851	protein-coding gene	gene with protein product	"""EF-hand calcium binding protein 3"""	612478	"""amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"""	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.491C>A	20.37:g.32248098G>T	ENSP00000246190:p.Ser164*	51	1		40	8	NM_031232	0	0	28	38	10	A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Nonsense_Mutation	SNP	ENST00000246190.6	37	CCDS42866.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.902969	0.72754	.	.	ENSG00000125967	ENST00000375238;ENST00000246190;ENST00000439478	.	.	.	5.1	5.1	0.69264	.	0.415364	0.25017	N	0.033788	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-6.0867	9.3787	0.38299	0.1611:0.0:0.8389:0.0	.	.	.	.	X	164	.	ENSP00000246190:S164X	S	-	2	0	NECAB3	31711759	0.457000	0.25752	0.163000	0.22734	0.880000	0.50808	3.185000	0.50934	2.378000	0.81104	0.561000	0.74099	TCA	.		0.617	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2		
NCOA6	23054	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	33328359	33328359	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:33328359C>A	ENST00000374796.2	-	12	8271	c.5701G>T	c.(5701-5703)Gca>Tca	p.A1901S	NCOA6_ENST00000359003.2_Missense_Mutation_p.A1901S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1901	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGGGTCCTGCTGAGGCAGTG	0.592																																					p.A1901S		.											.	NCOA6-292	0			c.G5701T						.						54.0	53.0	53.0					20																	33328359		2203	4300	6503	SO:0001583	missense	23054	exon11			GTCCTGCTGAGGC	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5701G>T	20.37:g.33328359C>A	ENSP00000363929:p.Ala1901Ser	41	0		38	22	NM_014071	0	0	10	22	12	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624735	0.46840	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.24151	1.87;1.87	5.65	-1.84	0.07809	.	0.752314	0.12599	N	0.454854	T	0.08891	0.0220	N	0.08118	0	0.20873	N	0.99984	B	0.16603	0.018	B	0.14023	0.01	T	0.37934	-0.9684	10	0.07813	T	0.8	0.0536	5.461	0.16617	0.0:0.3542:0.2436:0.4022	.	1901	Q14686	NCOA6_HUMAN	S	1901	ENSP00000363929:A1901S;ENSP00000351894:A1901S	ENSP00000351894:A1901S	A	-	1	0	NCOA6	32792020	0.118000	0.22208	0.979000	0.43373	0.932000	0.56968	-0.281000	0.08456	-0.444000	0.07170	0.655000	0.94253	GCA	.		0.592	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071	
DHX35	60625	mdanderson.org	37	20	37630412	37630412	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:37630412C>A	ENST00000252011.3	+	9	715	c.682C>A	c.(682-684)Cca>Aca	p.P228T	DHX35_ENST00000373325.2_Missense_Mutation_p.P228T|DHX35_ENST00000373323.4_Missense_Mutation_p.P197T	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	228	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AACCAGTGATCCAGCAAGGGA	0.348																																					p.P228T		.											.	DHX35-226	0			c.C682A						.						177.0	183.0	181.0					20																	37630412		2203	4300	6503	SO:0001583	missense	60625	exon9			AGTGATCCAGCAA	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.682C>A	20.37:g.37630412C>A	ENSP00000252011:p.Pro228Thr	37	0		36	12	NM_021931	0	0	5	6	1	A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813972	0.32053	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	T;T;T;T	0.10005	2.92;2.92;2.92;2.92	5.64	3.47	0.39725	DEAD-like helicase (2);	0.095175	0.85682	D	0.000000	T	0.10766	0.0263	L	0.42245	1.32	0.53688	D	0.999973	B;B	0.06786	0.001;0.0	B;B	0.12156	0.007;0.002	T	0.05920	-1.0856	10	0.72032	D	0.01	.	10.6132	0.45434	0.0:0.8228:0.0:0.1772	.	197;228	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	T	228;228;197;193	ENSP00000362422:P228T;ENSP00000252011:P228T;ENSP00000362420:P197T;ENSP00000414630:P193T	ENSP00000252011:P228T	P	+	1	0	DHX35	37063826	0.996000	0.38824	0.984000	0.44739	0.752000	0.42762	3.050000	0.49877	0.659000	0.30945	0.561000	0.74099	CCA	.		0.348	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931	
PLCG1	5335	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	39794149	39794149	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:39794149C>A	ENST00000373271.1	+	15	1974	c.1569C>A	c.(1567-1569)acC>acA	p.T523T	PLCG1_ENST00000373272.2_Silent_p.T523T|PLCG1_ENST00000244007.3_Silent_p.T523T	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	523	PH 2; first part. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CTGAGGAGACCAGCAGTGACC	0.587																																					p.T523T		.											.	PLCG1-911	0			c.C1569A						.						92.0	78.0	83.0					20																	39794149		2203	4300	6503	SO:0001819	synonymous_variant	5335	exon15			GGAGACCAGCAGT	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1569C>A	20.37:g.39794149C>A		165	1		115	50	NM_182811	0	0	1	8	7	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	ENST00000373271.1	37	CCDS13314.1																																																																																			.		0.587	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	
SDC4	6385	broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	43956014	43956014	+	Missense_Mutation	SNP	A	A	G	rs149518436		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:43956014A>G	ENST00000372733.3	-	5	526	c.487T>C	c.(487-489)Ttc>Ctc	p.F163L	SDC4_ENST00000537976.1_Missense_Mutation_p.F91L	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	163					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				AGGATCAGGAAGACGGCAAAG	0.532			T	ROS1	NSCLC																																p.F163L		.		Dom	yes		20	20q12	6385	syndecan 4		E	.	SDC4-90	0			c.T487C						.	A	LEU/PHE	2,4404	4.2+/-10.8	0,2,2201	98.0	87.0	91.0		487	4.3	0.7	20	dbSNP_134	91	0,8600		0,0,4300	no	missense	SDC4	NM_002999.3	22	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	probably-damaging	163/199	43956014	2,13004	2203	4300	6503	SO:0001583	missense	6385	exon5			TCAGGAAGACGGC	X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"""Proteoglycans / Cell Surface : Syndecans"""	10661	protein-coding gene	gene with protein product	"""syndecan proteoglycan 4"""	600017	"""syndecan 4 (amphiglycan, ryudocan)"""			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.487T>C	20.37:g.43956014A>G	ENSP00000361818:p.Phe163Leu	83	1		80	42	NM_002999	0	0	26	71	45	O00773|Q16833|Q53FN9|Q6FGN3	Missense_Mutation	SNP	ENST00000372733.3	37	CCDS13350.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.004128	0.35320	4.54E-4	0.0	ENSG00000124145	ENST00000372733;ENST00000537976	T	0.27256	1.68	5.37	4.28	0.50868	.	0.058810	0.64402	D	0.000001	T	0.18841	0.0452	L	0.32530	0.975	0.47214	D	0.999359	P	0.40282	0.711	B	0.41135	0.348	T	0.02950	-1.1090	10	0.10377	T	0.69	-31.4007	10.4059	0.44256	0.9234:0.0:0.0766:0.0	.	163	P31431	SDC4_HUMAN	L	163;91	ENSP00000361818:F163L	ENSP00000361818:F163L	F	-	1	0	SDC4	43389428	0.992000	0.36948	0.726000	0.30738	0.063000	0.16089	2.858000	0.48356	0.881000	0.35993	-0.256000	0.11100	TTC	A|1.000;G|0.000		0.532	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	NM_002999	
AURKA	6790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	54961553	54961553	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:54961553C>T	ENST00000347343.2	-	3	346	c.79G>A	c.(79-81)Gtg>Atg	p.V27M	AURKA_ENST00000395914.1_Missense_Mutation_p.V27M|AURKA_ENST00000395915.3_Missense_Mutation_p.V27M|AURKA_ENST00000371356.2_Missense_Mutation_p.V27M|AURKA_ENST00000395909.4_Missense_Mutation_p.V27M|AURKA_ENST00000395913.3_Missense_Mutation_p.V27M|AURKA_ENST00000395911.1_Missense_Mutation_p.V27M|AURKA_ENST00000395907.1_Missense_Mutation_p.V27M|AURKA_ENST00000312783.6_Missense_Mutation_p.V27M	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	27					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TGCTGAGTCACGAGAACACGT	0.428																																					p.V27M	Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)	.											.	AURKA-1601	0			c.G79A						.						70.0	69.0	69.0					20																	54961553		2203	4300	6503	SO:0001583	missense	6790	exon3			GAGTCACGAGAAC	BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11393	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 47"", ""Aurora-A kinase"""	603072	"""serine/threonine kinase 15"", "" serine/threonine kinase 6"""	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.79G>A	20.37:g.54961553C>T	ENSP00000216911:p.Val27Met	90	0		106	54	NM_198437	0	0	2	8	6	E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Missense_Mutation	SNP	ENST00000347343.2	37	CCDS13451.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.504359	0.26949	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907;ENST00000441357;ENST00000420474;ENST00000422322;ENST00000456249;ENST00000451915	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70749	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.51;-0.04;2.28;1.82;2.12;1.76	5.11	1.61	0.23674	.	0.389822	0.23356	N	0.049061	T	0.76169	0.3950	L	0.52364	1.645	0.09310	N	0.999999	B;D;D;D;D;D;D	0.89917	0.113;1.0;1.0;1.0;0.985;1.0;0.999	B;D;D;P;P;D;P	0.66847	0.048;0.947;0.918;0.891;0.835;0.923;0.882	T	0.66436	-0.5924	10	0.72032	D	0.01	-7.5605	10.4817	0.44698	0.0:0.7321:0.0:0.2679	.	27;27;27;27;27;27;27	Q5QPD1;Q5QPD2;A3KFJ1;Q5QPD4;A3KFJ0;B2R6Z3;O14965	.;.;.;.;.;.;AURKA_HUMAN	M	27	ENSP00000379245:V27M;ENSP00000379250:V27M;ENSP00000216911:V27M;ENSP00000379251:V27M;ENSP00000321591:V27M;ENSP00000360407:V27M;ENSP00000379249:V27M;ENSP00000379247:V27M;ENSP00000379243:V27M;ENSP00000393452:V27M;ENSP00000388073:V27M;ENSP00000405042:V27M;ENSP00000405170:V27M;ENSP00000401358:V27M	ENSP00000321591:V27M	V	-	1	0	AURKA	54394960	0.012000	0.17670	0.005000	0.12908	0.010000	0.07245	0.591000	0.23969	0.674000	0.31244	-0.214000	0.12660	GTG	.		0.428	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079804.3	NM_003600	
ZNF512B	57473	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	62616311	62616311	+	Intron	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:62616311G>T	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.D98Y			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGAGAAAGATGATGAGGAAGC	0.413																																					p.D98Y		.											.	PRPF6-70	0			c.G292T						.						124.0	106.0	112.0					20																	62616311		2203	4300	6503	SO:0001627	intron_variant	24148	exon3			AAAGATGATGAGG	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-17003C>A	20.37:g.62616311G>T		78	0		55	10	NM_012469	0	0	17	25	8	Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643481	0.87859	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	D;D	0.90620	-2.59;-2.7	4.9	4.9	0.64082	PRP1 splicing factor, N-terminal (1);	0.145766	0.64402	D	0.000012	D	0.96849	0.8971	H	0.95470	3.675	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.72075	0.976;0.957	D	0.98104	1.0416	10	0.87932	D	0	-15.2363	18.5125	0.90921	0.0:0.0:1.0:0.0	.	98;98	O94906-2;O94906	.;PRP6_HUMAN	Y	98	ENSP00000266079:D98Y;ENSP00000446216:D98Y	ENSP00000266079:D98Y	D	+	1	0	PRPF6	62086755	1.000000	0.71417	0.977000	0.42913	0.979000	0.70002	9.676000	0.98643	2.443000	0.82685	0.585000	0.79938	GAT	.		0.413	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713	
NPBWR2	2832	broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	62737957	62737957	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:62737957C>A	ENST00000369768.1	-	1	567	c.228G>T	c.(226-228)atG>atT	p.M76I		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	76					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TCACCGTCTTCATCTTGGGCG	0.607																																					p.M76I		.											.	NPBWR2-153	0			c.G228T						.						70.0	57.0	61.0					20																	62737957		2201	4300	6501	SO:0001583	missense	2832	exon1			CGTCTTCATCTTG	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.228G>T	20.37:g.62737957C>A	ENSP00000358783:p.Met76Ile	75	1		67	10	NM_005286	0	0	0	0	0	Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442342	0.83993	.	.	ENSG00000125522	ENST00000369768	T	0.38077	1.16	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.051919	0.64402	U	0.000001	T	0.58750	0.2144	M	0.85373	2.75	0.49687	D	0.99981	D	0.54964	0.969	P	0.58172	0.834	T	0.69461	-0.5139	10	0.87932	D	0	.	14.7494	0.69513	0.0:1.0:0.0:0.0	.	76	P48146	NPBW2_HUMAN	I	76	ENSP00000358783:M76I	ENSP00000358783:M76I	M	-	3	0	NPBWR2	62208401	1.000000	0.71417	0.394000	0.26270	0.809000	0.45718	5.471000	0.66762	1.516000	0.48900	0.484000	0.47621	ATG	.		0.607	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286	
SAMSN1	64092	broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	15893519	15893519	+	Missense_Mutation	SNP	G	G	T	rs192978628		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr21:15893519G>T	ENST00000400566.1	-	2	162	c.81C>A	c.(79-81)ttC>ttA	p.F27L	SAMSN1_ENST00000285670.2_Missense_Mutation_p.F95L|SAMSN1_ENST00000400564.1_Intron	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	27					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GAAAACGATCGAAATTCCCAA	0.289																																					p.F95L		.											.	SAMSN1-94	0			c.C285A						.						33.0	31.0	32.0					21																	15893519		1804	4060	5864	SO:0001583	missense	64092	exon3			ACGATCGAAATTC	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.81C>A	21.37:g.15893519G>T	ENSP00000383411:p.Phe27Leu	147	2		112	27	NM_001256370	0	0	0	0	0	B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427190	0.83667	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.60299	0.2;0.2	5.48	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.77274	0.4106	M	0.87682	2.9	0.45087	D	0.998101	D;D	0.89917	0.999;1.0	D;D	0.97110	0.997;1.0	T	0.79780	-0.1659	10	0.87932	D	0	-4.7412	11.2045	0.48760	0.9269:0.0:0.0731:0.0	.	95;27	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	L	95;27	ENSP00000285670:F95L;ENSP00000383411:F27L	ENSP00000285670:F95L	F	-	3	2	SAMSN1	14815390	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.763000	0.38461	0.893000	0.36288	-0.455000	0.05494	TTC	G|0.999;A|0.000		0.289	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1		
MAP3K7CL	56911	broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	30464777	30464777	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr21:30464777C>G	ENST00000399947.2	+	6	522	c.245C>G	c.(244-246)tCt>tGt	p.S82C	MAP3K7CL_ENST00000496779.1_3'UTR|MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.S82C|MAP3K7CL_ENST00000339024.4_5'UTR|MAP3K7CL_ENST00000399934.1_5'UTR|MAP3K7CL_ENST00000545939.1_5'UTR|MAP3K7CL_ENST00000286791.5_Missense_Mutation_p.S82C|MAP3K7CL_ENST00000399935.2_5'UTR	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	82						cytosol (GO:0005829)|nucleus (GO:0005634)											GTTTTATGCTCTGCAACAAGT	0.428																																					p.S82C		.											.	.	0			c.C245G						.						135.0	120.0	125.0					21																	30464777		2203	4300	6503	SO:0001583	missense	56911	exon6			TATGCTCTGCAAC	AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"""chromosome 21 open reading frame 7"""	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.245C>G	21.37:g.30464777C>G	ENSP00000382828:p.Ser82Cys	79	1		73	14	NM_020152	0	0	1	1	0	D3DSE0|Q8TCL9	Missense_Mutation	SNP	ENST00000399947.2	37	CCDS13584.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582685	0.46006	.	.	ENSG00000156265	ENST00000341618;ENST00000286791;ENST00000399947	T;T;T	0.55760	0.54;0.5;0.54	4.3	3.43	0.39272	.	0.577478	0.14587	N	0.310487	T	0.46034	0.1372	N	0.14661	0.345	0.80722	D	1	D	0.54964	0.969	P	0.52267	0.694	T	0.50259	-0.8849	10	0.87932	D	0	-3.7688	11.3525	0.49596	0.0:0.912:0.0:0.088	.	82	P57077	TAK1L_HUMAN	C	82	ENSP00000343212:S82C;ENSP00000286791:S82C;ENSP00000382828:S82C	ENSP00000286791:S82C	S	+	2	0	C21orf7	29386648	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.834000	0.39171	1.410000	0.46936	-0.143000	0.13931	TCT	.		0.428	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000171865.2	NM_020152	
SCAF4	57466	broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	33043911	33043911	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr21:33043911T>A	ENST00000286835.7	-	20	3627	c.3245A>T	c.(3244-3246)gAg>gTg	p.E1082V	SCAF4_ENST00000399804.1_Missense_Mutation_p.E1060V|SCAF4_ENST00000434667.3_Missense_Mutation_p.E1067V	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1082						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTCTGTCACCTCAGGCTTTTC	0.493																																					p.E1082V		.											.	SCAF4-90	0			c.A3245T						.						151.0	145.0	147.0					21																	33043911		2203	4300	6503	SO:0001583	missense	57466	exon20			GTCACCTCAGGCT	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.3245A>T	21.37:g.33043911T>A	ENSP00000286835:p.Glu1082Val	58	1		38	17	NM_020706	0	0	12	35	23	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068358	0.76301	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.55413	0.52;0.52;0.52	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000004	T	0.62048	0.2396	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.77557	0.99;0.93;0.915	T	0.66284	-0.5962	10	0.87932	D	0	-20.8321	16.3453	0.83126	0.0:0.0:0.0:1.0	.	1067;1060;1082	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	V	1067;1082;1060	ENSP00000402377:E1067V;ENSP00000286835:E1082V;ENSP00000382703:E1060V	ENSP00000286835:E1082V	E	-	2	0	SCAF4	31965782	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	5.397000	0.66302	2.261000	0.74972	0.533000	0.62120	GAG	.		0.493	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889	
SYNJ1	8867	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	34011381	34011381	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr21:34011381G>T	ENST00000322229.7	-	30	3751	c.3752C>A	c.(3751-3753)tCt>tAt	p.S1251Y	SYNJ1_ENST00000433931.2_Missense_Mutation_p.S1290Y|SYNJ1_ENST00000382491.3_Missense_Mutation_p.S1204Y|SYNJ1_ENST00000382499.2_Missense_Mutation_p.S1290Y|SYNJ1_ENST00000357345.3_Missense_Mutation_p.S1235Y			O43426	SYNJ1_HUMAN	synaptojanin 1	1251	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGGCAAAGAAGACTGCGGAGG	0.512																																					p.S1290Y		.											.	SYNJ1-232	0			c.C3869A						.						92.0	103.0	100.0					21																	34011381		2203	4300	6503	SO:0001583	missense	8867	exon31			AAAGAAGACTGCG	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3752C>A	21.37:g.34011381G>T	ENSP00000322234:p.Ser1251Tyr	49	0		37	7	NM_203446	0	0	2	2	0	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.19|10.19	1.282083|1.282083	0.23392|0.23392	.|.	.|.	ENSG00000159082|ENSG00000159082	ENST00000418301|ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	.|D;D;D;D;D	.|0.94046	.|-2.48;-3.34;-3.28;-2.44;-2.44	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.959047	.|0.08734	.|N	.|0.901677	D|D	0.90786|0.90786	0.7107|0.7107	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	.|B;B;B;P;B	.|0.36330	.|0.07;0.214;0.115;0.548;0.32	.|B;B;B;B;B	.|0.39771	.|0.048;0.058;0.124;0.309;0.124	D|D	0.84225|0.84225	0.0463|0.0463	5|10	.|0.87932	.|D	.|0	.|.	10.1242|10.1242	0.42639|0.42639	0.0774:0.139:0.7836:0.0|0.0774:0.139:0.7836:0.0	.|.	.|1204;1290;1251;1251;1235	.|B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.|.;.;.;SYNJ1_HUMAN;.	I|Y	72|1204;1235;1290;1290;1251	.|ENSP00000371931:S1204Y;ENSP00000349903:S1235Y;ENSP00000371939:S1290Y;ENSP00000409667:S1290Y;ENSP00000322234:S1251Y	.|ENSP00000322234:S1251Y	L|S	-|-	1|2	0|0	SYNJ1|SYNJ1	32933252|32933252	1.000000|1.000000	0.71417|0.71417	0.014000|0.014000	0.15608|0.15608	0.017000|0.017000	0.09413|0.09413	5.074000|5.074000	0.64401|0.64401	2.389000|2.389000	0.81357|0.81357	0.655000|0.655000	0.94253|0.94253	CTT|TCT	.		0.512	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
TRPM2	7226	broad.mit.edu;bcgsc.ca	37	21	45838383	45838383	+	Nonsense_Mutation	SNP	C	C	T	rs143493112		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr21:45838383C>T	ENST00000397928.1	+	22	3851	c.3406C>T	c.(3406-3408)Cga>Tga	p.R1136*	TRPM2_ENST00000300482.5_Nonsense_Mutation_p.R1136*|AP001065.2_ENST00000456880.1_RNA|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Nonsense_Mutation_p.R1136*|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.R1116*	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1136					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCTCCAGAACCGACAGTTCCA	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18669	0.0		0.0	False		,,,				2504	0.001				p.R1136X		.											.	TRPM2-92	0			c.C3406T						.	C	stop/ARG	3,4403	6.2+/-15.9	0,3,2200	135.0	137.0	137.0		3406	4.8	0.3	21	dbSNP_134	137	12,8588	9.1+/-34.3	0,12,4288	yes	stop-gained	TRPM2	NM_003307.3		0,15,6488	TT,TC,CC		0.1395,0.0681,0.1153		1136/1504	45838383	15,12991	2203	4300	6503	SO:0001587	stop_gained	7226	exon22			CAGAACCGACAGT	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3406C>T	21.37:g.45838383C>T	ENSP00000381023:p.Arg1136*	295	1		218	7	NM_003307	0	0	1	1	0	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Nonsense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	38	7.041531	0.98021	6.81E-4	0.001395	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	.	.	.	4.81	4.81	0.61882	.	0.605119	0.16448	N	0.213991	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-12.6798	11.4159	0.49951	0.0:0.9154:0.0:0.0846	.	.	.	.	X	1136;1136;1116;1136	.	ENSP00000300481:R1116X	R	+	1	2	TRPM2	44662811	0.834000	0.29399	0.303000	0.25071	0.096000	0.18686	3.140000	0.50585	2.395000	0.81488	0.514000	0.50259	CGA	C|0.998;T|0.002		0.607	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
KRTAP10-3	386682	bcgsc.ca	37	21	45978319	45978319	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr21:45978319G>C	ENST00000391620.1	-	1	324	c.280C>G	c.(280-282)Ccc>Gcc	p.P94A	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	94	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						tgctggcagggggaggatgtg	0.667																																					p.P94A		.											.	KRTAP10-3-91	0			c.C280G						.						102.0	99.0	100.0					21																	45978319		2203	4300	6503	SO:0001583	missense	386682	exon1			GGCAGGGGGAGGA	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.280C>G	21.37:g.45978319G>C	ENSP00000375478:p.Pro94Ala	91	5		86	71	NM_198696	0	0	0	0	0	A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	g	4.681	0.126630	0.08931	.	.	ENSG00000212935	ENST00000391620	T	0.01323	5.01	3.43	-0.848	0.10727	.	.	.	.	.	T	0.02119	0.0066	M	0.86805	2.84	0.19300	N	0.999972	B	0.20261	0.043	B	0.17098	0.017	T	0.54788	-0.8241	9	0.02654	T	1	.	4.6248	0.12472	0.3096:0.1621:0.5282:0.0	.	94	P60369	KR103_HUMAN	A	94	ENSP00000375478:P94A	ENSP00000375478:P94A	P	-	1	0	KRTAP10-3	44802747	0.839000	0.29477	0.097000	0.21041	0.600000	0.36913	0.763000	0.26517	-0.320000	0.08640	0.505000	0.49811	CCC	.		0.667	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1		
KRTAP10-4	386672	ucsc.edu	37	21	45993851	45993851	+	Silent	SNP	C	C	T	rs201895065		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr21:45993851C>T	ENST00000400374.3	+	1	246	c.216C>T	c.(214-216)tgC>tgT	p.C72C	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	72	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CAGTGACCTGCGAGCCCAGCC	0.721																																					p.C72C		.											.	KRTAP10-4-90	0			c.C216T						.						20.0	38.0	32.0					21																	45993851		1993	4191	6184	SO:0001819	synonymous_variant	386672	exon1			GACCTGCGAGCCC	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.216C>T	21.37:g.45993851C>T		16	5		31	25	NM_198687	0	0	0	0	0	Q08AS0	Silent	SNP	ENST00000400374.3	37	CCDS42957.1																																																																																			C|1.000;|0.000		0.721	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687	
POTEH	23784	broad.mit.edu	37	22	16266963	16266963	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:16266963G>T	ENST00000343518.6	-	9	1537	c.1486C>A	c.(1486-1488)Caa>Aaa	p.Q496K		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	496										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCAGGAAATTGCTGGCTTTCA	0.418																																					p.Q496K		.											.	POTEH-1	0			c.C1486A						.						5.0	7.0	7.0					22																	16266963		179	737	916	SO:0001583	missense	23784	exon9			GAAATTGCTGGCT	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1486C>A	22.37:g.16266963G>T	ENSP00000340610:p.Gln496Lys	1151	2		1275	19	NM_001136213	0	0	0	0	0	A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298962	0.23650	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.28454	1.61	1.4	0.227	0.15359	.	.	.	.	.	T	0.35508	0.0934	L	0.32530	0.975	0.09310	N	1	D;P	0.69078	0.997;0.931	D;B	0.72338	0.977;0.294	T	0.19943	-1.0290	9	0.29301	T	0.29	.	5.2958	0.15751	0.0:0.3684:0.6316:0.0	.	496;459	Q6S545;A6NKF6	POTEH_HUMAN;.	K	459;496	ENSP00000340610:Q496K	ENSP00000340610:Q496K	Q	-	1	0	POTEH	14646963	0.001000	0.12720	0.003000	0.11579	0.038000	0.13279	0.393000	0.20817	0.123000	0.18342	0.184000	0.17185	CAA	.		0.418	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213	
CLDN5	7122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	19511638	19511638	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:19511638C>A	ENST00000406028.1	-	2	1456	c.396G>T	c.(394-396)tgG>tgT	p.W132C	CLDN5_ENST00000403084.1_Missense_Mutation_p.W132C|CLDN5_ENST00000413119.2_Missense_Mutation_p.W132C			O00501	CLD5_HUMAN	claudin 5	47					calcium-independent cell-cell adhesion (GO:0016338)|myelination (GO:0042552)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					ACAGCCCCTTCCAGGTGGTCT	0.672																																					p.W132C		.											.	CLDN5-492	0			c.G396T						.						48.0	39.0	42.0					22																	19511638		2203	4300	6503	SO:0001583	missense	7122	exon1			CCCCTTCCAGGTG	AF000959	CCDS13763.2	22q11.21	2008-08-01	2008-08-01		ENSG00000184113	ENSG00000184113		"""Claudins"""	2047	protein-coding gene	gene with protein product		602101	"""transmembrane protein deleted in velocardiofacial syndrome"""	AWAL, TMVCF		9441748, 9192844	Standard	NM_003277		Approved	CPETRL1, BEC1	uc002zpu.2	O00501	OTTHUMG00000150441	ENST00000406028.1:c.396G>T	22.37:g.19511638C>A	ENSP00000385477:p.Trp132Cys	56	0		67	56	NM_001130861	0	0	2	2	0	B3KS11|Q53XW2|Q8WUW3	Missense_Mutation	SNP	ENST00000406028.1	37	CCDS13763.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303911	0.81136	.	.	ENSG00000184113	ENST00000406028;ENST00000403084;ENST00000413119	D;D;D	0.88818	-2.43;-2.43;-2.43	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.96291	0.8790	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97583	1.0112	10	0.87932	D	0	.	17.4842	0.87682	0.0:1.0:0.0:0.0	.	132	D3DX19	.	C	132	ENSP00000385477:W132C;ENSP00000384554:W132C;ENSP00000400612:W132C	ENSP00000384554:W132C	W	-	3	0	CLDN5	17891638	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.887000	0.63156	2.384000	0.81235	0.563000	0.77884	TGG	.		0.672	CLDN5-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318122.3	NM_003277	
DGCR8	54487	broad.mit.edu;bcgsc.ca	37	22	20080378	20080378	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:20080378G>T	ENST00000351989.3	+	8	2082	c.1653G>T	c.(1651-1653)gtG>gtT	p.V551V	DGCR8_ENST00000407755.1_Intron|DGCR8_ENST00000383024.2_Intron	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	551	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TTGATGGTGTGACTTACGGAT	0.428																																					p.V551V		.											.	DGCR8-90	0			c.G1653T						.						173.0	172.0	172.0					22																	20080378		2203	4300	6503	SO:0001819	synonymous_variant	54487	exon8			TGGTGTGACTTAC	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1653G>T	22.37:g.20080378G>T		113	1		84	5	NM_022720	0	0	12	13	1	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Silent	SNP	ENST00000351989.3	37	CCDS13773.1																																																																																			.		0.428	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1		
SERPIND1	3053	broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	21140341	21140341	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:21140341C>A	ENST00000215727.5	+	4	1496	c.1213C>A	c.(1213-1215)Cta>Ata	p.L405I	PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.L405I|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	405					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	GAACTACAATCTAGTGGAGTC	0.468																																					p.L405I		.											.	SERPIND1-414	0			c.C1213A						.						183.0	171.0	175.0					22																	21140341		2203	4300	6503	SO:0001583	missense	3053	exon4			TACAATCTAGTGG	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1213C>A	22.37:g.21140341C>A	ENSP00000215727:p.Leu405Ile	123	2		112	60	NM_000185	0	0	0	0	0	B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810556	0.70797	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.89415	-2.51;-2.51	5.28	4.26	0.50523	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.94335	0.8179	M	0.89658	3.05	0.51482	D	0.99992	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	D	0.94125	0.7383	10	0.72032	D	0.01	.	8.2242	0.31560	0.0:0.7516:0.0:0.2484	.	405;405	Q8IVC0;P05546	.;HEP2_HUMAN	I	405	ENSP00000215727:L405I;ENSP00000384050:L405I	ENSP00000215727:L405I	L	+	1	2	SERPIND1	19470341	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	1.568000	0.36418	1.461000	0.47929	0.655000	0.94253	CTA	.		0.468	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185	
IGLL1	3543	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	22	23915564	23915564	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:23915564G>T	ENST00000330377.2	-	3	648	c.531C>A	c.(529-531)agC>agA	p.S177R	AP000345.2_ENST00000454863.1_RNA|IGLL1_ENST00000249053.3_3'UTR|AP000345.2_ENST00000458318.1_RNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	177	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						GGCTCAGGTAGCTGCTGGCCG	0.627																																					p.S177R		.											.	IGLL1-90	0			c.C531A						.						96.0	87.0	90.0					22																	23915564		2203	4300	6503	SO:0001583	missense	3543	exon3			CAGGTAGCTGCTG	X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.531C>A	22.37:g.23915564G>T	ENSP00000329312:p.Ser177Arg	126	0		139	8	NM_020070	0	0	12	12	0	Q0P681	Missense_Mutation	SNP	ENST00000330377.2	37	CCDS13809.1	.	.	.	.	.	.	.	.	.	.	-	11.21	1.571709	0.28003	.	.	ENSG00000128322	ENST00000330377;ENST00000438703	T;T	0.00856	5.61;5.61	2.45	2.45	0.29901	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.080706	0.53938	D	0.000055	T	0.07818	0.0196	H	0.97214	3.96	0.44214	D	0.997042	D	0.89917	1.0	D	0.91635	0.999	T	0.00100	-1.2065	10	0.87932	D	0	.	5.7738	0.18267	0.169:0.0:0.831:0.0	.	177	P15814	IGLL1_HUMAN	R	177;178	ENSP00000329312:S177R;ENSP00000403391:S178R	ENSP00000329312:S177R	S	-	3	2	IGLL1	22245564	1.000000	0.71417	0.998000	0.56505	0.064000	0.16182	0.523000	0.22925	1.363000	0.46019	0.165000	0.16767	AGC	.		0.627	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070	
MMP11	4320	broad.mit.edu;bcgsc.ca	37	22	24121481	24121481	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:24121481C>A	ENST00000215743.3	+	2	268	c.216C>A	c.(214-216)gcC>gcA	p.A72A	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	72					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	CCCGGCCTGCCAGCAGCCTCA	0.711																																					p.A72A		.											.	MMP11-291	0			c.C216A						.						12.0	14.0	14.0					22																	24121481		2200	4291	6491	SO:0001819	synonymous_variant	4320	exon2			GCCTGCCAGCAGC		CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.216C>A	22.37:g.24121481C>A		48	1		90	25	NM_005940	0	0	1	1	0	Q5FX24|Q6PEZ6|Q9UC26	Silent	SNP	ENST00000215743.3	37	CCDS13816.1																																																																																			.		0.711	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940	
UPB1	51733	hgsc.bcm.edu;broad.mit.edu	37	22	24911294	24911294	+	Silent	SNP	G	G	T	rs374480199		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:24911294G>T	ENST00000326010.5	+	6	1091	c.747G>T	c.(745-747)ggG>ggT	p.G249G	AP000355.2_ENST00000432032.1_RNA|UPB1_ENST00000413389.2_Silent_p.G181G	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	249	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GCATCAACGGGGCTGAGATCA	0.612																																					p.G249G		.											.	UPB1-92	0			c.G747T						.						108.0	86.0	93.0					22																	24911294		2203	4300	6503	SO:0001819	synonymous_variant	51733	exon6			CAACGGGGCTGAG	AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.747G>T	22.37:g.24911294G>T		152	0		97	5	NM_016327	0	0	0	0	0	A3KMF8|Q9UIR3	Silent	SNP	ENST00000326010.5	37	CCDS13827.1																																																																																			.		0.612	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1		
MYO18B	84700	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	26423258	26423258	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:26423258G>T	ENST00000407587.2	+	43	7490	c.7321G>T	c.(7321-7323)Gac>Tac	p.D2441Y	MYO18B_ENST00000335473.7_Missense_Mutation_p.D2440Y|MYO18B_ENST00000536101.1_Missense_Mutation_p.D2440Y			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2440						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GACCAAAGTGGACTTCGATGA	0.562																																					p.D2440Y		.											.	MYO18B-142	0			c.G7318T						.						124.0	126.0	125.0					22																	26423258		2015	4172	6187	SO:0001583	missense	84700	exon43			AAAGTGGACTTCG	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7321G>T	22.37:g.26423258G>T	ENSP00000386096:p.Asp2441Tyr	203	1		154	73	NM_032608	0	0	0	0	0	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.32|12.32	1.903018|1.903018	0.33628|0.33628	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.88896|.	-2.42;-2.42;-2.44|.	5.27|5.27	1.5|1.5	0.22942|0.22942	.|.	0.468209|.	0.19183|.	N|.	0.120628|.	T|T	0.50599|0.50599	0.1625|0.1625	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	D;D;D;D;D|.	0.63880|.	0.974;0.989;0.989;0.986;0.993|.	P;P;P;P;P|.	0.58873|.	0.66;0.707;0.707;0.66;0.847|.	T|T	0.42865|0.42865	-0.9426|-0.9426	10|5	0.87932|.	D|.	0|.	.|.	11.1456|11.1456	0.48428|0.48428	0.2482:0.0:0.7518:0.0|0.2482:0.0:0.7518:0.0	.|.	1953;2442;2440;2441;2440|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	Y|C	2440;2440;2441|389	ENSP00000441229:D2440Y;ENSP00000334563:D2440Y;ENSP00000386096:D2441Y|.	ENSP00000334563:D2440Y|.	D|W	+|+	1|3	0|0	MYO18B|MYO18B	24753258|24753258	1.000000|1.000000	0.71417|0.71417	0.844000|0.844000	0.33320|0.33320	0.172000|0.172000	0.22775|0.22775	2.658000|2.658000	0.46733|0.46733	0.604000|0.604000	0.29930|0.29930	0.561000|0.561000	0.74099|0.74099	GAC|TGG	.		0.562	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
DEPDC5	9681	ucsc.edu;bcgsc.ca	37	22	32266663	32266663	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:32266663C>A	ENST00000382112.3	+	33	3461	c.3391C>A	c.(3391-3393)Cag>Aag	p.Q1131K	DEPDC5_ENST00000535622.1_Missense_Mutation_p.Q1040K|DEPDC5_ENST00000382111.2_Missense_Mutation_p.Q1140K|DEPDC5_ENST00000400246.1_Missense_Mutation_p.Q1140K|DEPDC5_ENST00000400248.2_Missense_Mutation_p.Q1109K|DEPDC5_ENST00000382105.2_Missense_Mutation_p.Q1062K|DEPDC5_ENST00000266091.3_Missense_Mutation_p.Q1118K|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000539165.1_5'UTR|DEPDC5_ENST00000400249.2_Missense_Mutation_p.Q1109K	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1140					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						AGGCAACAGCCAGACCTTTGG	0.522																																					p.Q1140K		.											.	DEPDC5-519	0			c.C3418A						.						94.0	96.0	95.0					22																	32266663		1980	4175	6155	SO:0001583	missense	9681	exon34			AACAGCCAGACCT	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.3391C>A	22.37:g.32266663C>A	ENSP00000371546:p.Gln1131Lys	130	2		129	54	NM_001242896	0	0	0	0	0	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.69|17.69	3.452405|3.452405	0.63290|0.63290	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.|T;T;T;T;T;T;T;T	.|0.31769	.|1.54;1.96;1.96;1.93;1.48;1.95;1.93;1.96	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.139455	.|0.48767	.|D	.|0.000163	T|T	0.38427|0.38427	0.1040|0.1040	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;B;P;P;B;B;B	.|0.60575	.|0.988;0.435;0.488;0.622;0.228;0.435;0.255	.|D;B;B;B;B;B;B	.|0.75020	.|0.985;0.104;0.2;0.228;0.083;0.104;0.053	T|T	0.03840|0.03840	-1.0999|-1.0999	5|10	.|0.05833	.|T	.|0.94	.|.	16.7801|16.7801	0.85561|0.85561	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|461;1140;1040;526;1118;1131;1109	.|B4DSS1;B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;.;DEPD5_HUMAN	Q|K	515|1040;1118;1109;1040;1140;1062;1131;1140;1109	.|ENSP00000440210:Q1040K;ENSP00000266091:Q1118K;ENSP00000383108:Q1109K;ENSP00000383105:Q1140K;ENSP00000371539:Q1062K;ENSP00000371546:Q1131K;ENSP00000371545:Q1140K;ENSP00000383107:Q1109K	.|ENSP00000266091:Q1118K	P|Q	+|+	2|1	0|0	DEPDC5|DEPDC5	30596663|30596663	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	4.261000|4.261000	0.58841|0.58841	2.755000|2.755000	0.94549|0.94549	0.655000|0.655000	0.94253|0.94253	CCA|CAG	.		0.522	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662	
TEX33	339669	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	37397950	37397950	+	Silent	SNP	G	G	T	rs200772582		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:37397950G>T	ENST00000405091.2	-	4	668	c.417C>A	c.(415-417)ggC>ggA	p.G139G	TEX33_ENST00000402860.3_Silent_p.G54G|TEX33_ENST00000381821.1_Silent_p.G139G			O43247	TEX33_HUMAN	testis expressed 33	139																	GAATGATGCTGCCCTTCTGGT	0.627																																					p.G139G		.											.	.	0			c.C417A						.						134.0	83.0	100.0					22																	37397950		2203	4300	6503	SO:0001819	synonymous_variant	339669	exon3			GATGCTGCCCTTC	BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 33"""	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.417C>A	22.37:g.37397950G>T		171	0		112	25	NM_001163857	0	0	0	0	0	B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Silent	SNP	ENST00000405091.2	37	CCDS54524.1																																																																																			G|0.999;A|0.001		0.627	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552	
TAB1	10454	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	39811035	39811035	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:39811035G>T	ENST00000216160.6	+	2	120	c.58G>T	c.(58-60)Gac>Tac	p.D20Y	TAB1_ENST00000331454.3_Missense_Mutation_p.D20Y	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	20					activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CTGGACAGATGACCTGCCTCT	0.627																																					p.D20Y		.											.	TAB1-522	0			c.G58T						.						45.0	37.0	39.0					22																	39811035		2203	4300	6503	SO:0001583	missense	10454	exon2			ACAGATGACCTGC	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.58G>T	22.37:g.39811035G>T	ENSP00000216160:p.Asp20Tyr	86	0		69	11	NM_153497	0	0	6	6	0	Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495750	0.85069	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.56103	0.48;0.52	4.85	4.85	0.62838	Protein phosphatase 2C-like (2);	0.000000	0.85682	D	0.000000	T	0.73133	0.3548	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.78314	0.984;0.841;0.991	T	0.77038	-0.2736	10	0.87932	D	0	-15.6168	18.1569	0.89694	0.0:0.0:1.0:0.0	.	20;20;164	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	Y	20	ENSP00000216160:D20Y;ENSP00000333049:D20Y	ENSP00000216160:D20Y	D	+	1	0	TAB1	38140981	1.000000	0.71417	0.965000	0.40720	0.878000	0.50629	8.539000	0.90637	2.510000	0.84645	0.655000	0.94253	GAC	.		0.627	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497	
TNRC6B	23112	ucsc.edu;bcgsc.ca	37	22	40657846	40657846	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:40657846G>T	ENST00000454349.2	+	4	337	c.126G>T	c.(124-126)gtG>gtT	p.V42V	TNRC6B_ENST00000335727.9_Silent_p.V42V|TNRC6B_ENST00000301923.9_Silent_p.V78V|TNRC6B_ENST00000402203.1_Silent_p.V78V	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	42	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|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 translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						TGCCCGAAGTGACGAAACCAA	0.408																																					p.V78V		.											.	TNRC6B-22	0			c.G234T						.						30.0	32.0	32.0					22																	40657846		1869	4061	5930	SO:0001819	synonymous_variant	23112	exon7			CGAAGTGACGAAA	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.126G>T	22.37:g.40657846G>T		251	3		161	76	NM_001024843	0	0	0	0	0	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	ENST00000454349.2	37	CCDS54533.1																																																																																			.		0.408	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding			
TNRC6B	23112	bcgsc.ca;mdanderson.org	37	22	40666127	40666127	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:40666127C>A	ENST00000454349.2	+	6	3019	c.2808C>A	c.(2806-2808)gtC>gtA	p.V936V	TNRC6B_ENST00000335727.9_Intron|TNRC6B_ENST00000301923.9_Splice_Site_p.V189V|TNRC6B_ENST00000402203.1_Splice_Site_p.V189V	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	936	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|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 translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						TCTTTATAGTCTGGAGCAAAA	0.458																																					p.V936V		.											.	TNRC6B-22	0			c.C2808A						.						28.0	30.0	29.0					22																	40666127		1914	4120	6034	SO:0001630	splice_region_variant	23112	exon6			TATAGTCTGGAGC	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2807-1C>A	22.37:g.40666127C>A		31	1		33	15	NM_001162501	0	0	0	0	0	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	ENST00000454349.2	37	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990759	0.35131	.	.	ENSG00000100354	ENST00000446273	.	.	.	6.0	4.98	0.66077	.	.	.	.	.	T	0.62011	0.2393	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57980	-0.7717	4	.	.	.	.	10.9978	0.47587	0.0:0.8044:0.1277:0.0679	.	.	.	.	Y	679	.	.	S	+	2	0	TNRC6B	38996073	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.129000	0.42055	2.848000	0.98002	0.637000	0.83480	TCT	.		0.458	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding			Silent
MOV10L1	54456	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	50552817	50552817	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:50552817G>T	ENST00000262794.5	+	7	975	c.892G>T	c.(892-894)Gga>Tga	p.G298*	MOV10L1_ENST00000540615.1_Nonsense_Mutation_p.G278*|MOV10L1_ENST00000545383.1_Nonsense_Mutation_p.G298*|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Nonsense_Mutation_p.G298*	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	298					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CAGGAATAAAGGAGACATTCC	0.368																																					p.G298X		.											.	MOV10L1-93	0			c.G892T						.						56.0	57.0	56.0					22																	50552817		2203	4300	6503	SO:0001587	stop_gained	54456	exon7			AATAAAGGAGACA	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.892G>T	22.37:g.50552817G>T	ENSP00000262794:p.Gly298*	65	0		36	21	NM_018995	0	0	0	0	0	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Nonsense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	42	9.195421	0.99096	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-39.2864	19.3663	0.94464	0.0:0.0:1.0:0.0	.	.	.	.	X	298;298;298;278	.	ENSP00000262794:G298X	G	+	1	0	MOV10L1	48894944	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	6.954000	0.76001	2.873000	0.98535	0.563000	0.77884	GGA	.		0.368	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	
IRAK2	3656	hgsc.bcm.edu;bcgsc.ca	37	3	10255048	10255048	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:10255048G>T	ENST00000256458.4	+	5	776	c.686G>T	c.(685-687)aGg>aTg	p.R229M		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	229	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						AGAGGGCACAGGCACGGGAAG	0.552																																					p.R229M		.											.	IRAK2-574	0			c.G686T						.						65.0	63.0	63.0					3																	10255048		2203	4300	6503	SO:0001583	missense	3656	exon5			GGCACAGGCACGG	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.686G>T	3.37:g.10255048G>T	ENSP00000256458:p.Arg229Met	92	0		67	4	NM_001570	0	0	1	1	0	B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	G	3.912	-0.019832	0.07634	.	.	ENSG00000134070	ENST00000256458	T	0.66638	-0.22	5.48	2.67	0.31697	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.303860	0.28606	N	0.014744	T	0.62744	0.2453	N	0.21240	0.645	0.09310	N	1	D	0.76494	0.999	D	0.71870	0.975	T	0.51576	-0.8688	10	0.21540	T	0.41	-10.4501	5.3987	0.16283	0.1694:0.0:0.6708:0.1598	.	229	O43187	IRAK2_HUMAN	M	229	ENSP00000256458:R229M	ENSP00000256458:R229M	R	+	2	0	IRAK2	10230048	0.234000	0.23783	0.001000	0.08648	0.020000	0.10135	1.609000	0.36858	0.345000	0.23873	0.655000	0.94253	AGG	.		0.552	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1		
GADL1	339896	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	30875737	30875737	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:30875737G>T	ENST00000282538.5	-	10	1090	c.940C>A	c.(940-942)Cac>Aac	p.H314N	GADL1_ENST00000454381.3_Missense_Mutation_p.H314N	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	314					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						AGCTTGCGGTGCTTCCTCGAC	0.428																																					p.H314N		.											.	GADL1-90	0			c.C940A						.						104.0	106.0	105.0					3																	30875737		2203	4300	6503	SO:0001583	missense	339896	exon10			TGCGGTGCTTCCT	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.940C>A	3.37:g.30875737G>T	ENSP00000282538:p.His314Asn	153	2		115	13	NM_207359	0	0	0	0	0		Missense_Mutation	SNP	ENST00000282538.5	37	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029110	0.75504	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.38401	1.14;1.14	5.49	3.7	0.42460	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.174235	0.48286	D	0.000181	T	0.60560	0.2278	M	0.86953	2.85	0.34778	D	0.734441	D	0.53885	0.963	D	0.70487	0.969	T	0.71444	-0.4591	10	0.62326	D	0.03	-11.6842	8.7644	0.34694	0.2264:0.0:0.7736:0.0	.	314	Q6ZQY3	GADL1_HUMAN	N	314	ENSP00000282538:H314N;ENSP00000427059:H314N	ENSP00000282538:H314N	H	-	1	0	GADL1	30850741	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.918000	0.40006	0.693000	0.31634	0.655000	0.94253	CAC	.		0.428	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359	
TTC21A	199223	bcgsc.ca	37	3	39156157	39156157	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:39156157C>A	ENST00000431162.2	+	6	774	c.640C>A	c.(640-642)Ctg>Atg	p.L214M	TTC21A_ENST00000301819.6_Missense_Mutation_p.L214M|TTC21A_ENST00000440121.1_Missense_Mutation_p.L173M			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	214										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGGGAGCTTCCTGCCAGCCCT	0.547																																					p.L214M		.											.	TTC21A-91	0			c.C640A						.						111.0	110.0	110.0					3																	39156157		2031	4180	6211	SO:0001583	missense	199223	exon6			AGCTTCCTGCCAG	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.640C>A	3.37:g.39156157C>A	ENSP00000398211:p.Leu214Met	163	3		126	33	NM_145755	0	0	2	2	0	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537846	0.45176	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.36157	1.27;1.27;2.07	5.0	3.01	0.34805	Tetratricopeptide-like helical (1);	0.222920	0.27323	N	0.019888	T	0.47967	0.1474	M	0.69823	2.125	0.32363	N	0.556937	D;D;D;D;D	0.61080	0.984;0.989;0.989;0.981;0.989	P;P;P;P;P	0.58873	0.847;0.847;0.847;0.708;0.847	T	0.56263	-0.8008	10	0.33940	T	0.23	-10.4614	7.4225	0.27079	0.2285:0.6742:0.0:0.0973	.	173;214;214;214;214	Q8NDW8-6;Q8NDW8-5;Q8NDW8-7;Q8NDW8;F5H6V8	.;.;.;TT21A_HUMAN;.	M	214;214;214;173	ENSP00000301819:L214M;ENSP00000398211:L214M;ENSP00000410882:L173M	ENSP00000301819:L214M	L	+	1	2	TTC21A	39131161	0.915000	0.31059	1.000000	0.80357	0.404000	0.30871	-0.058000	0.11750	1.104000	0.41587	-0.258000	0.10820	CTG	.		0.547	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755	
LARS2	23395	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	45589017	45589017	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:45589017G>T	ENST00000415258.1	+	21	2848	c.2707G>T	c.(2707-2709)Gat>Tat	p.D903Y	LARS2_ENST00000414984.1_Missense_Mutation_p.D860Y|LARS2_ENST00000265537.3_Missense_Mutation_p.D903Y			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	903					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CCTGGTGCAAGATTGACAGCC	0.577																																					p.D903Y		.											.	LARS2-92	0			c.G2707T						.						82.0	80.0	81.0					3																	45589017		2203	4300	6503	SO:0001583	missense	23395	exon22			GTGCAAGATTGAC	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.2707G>T	3.37:g.45589017G>T	ENSP00000408576:p.Asp903Tyr	84	1		94	18	NM_015340	0	0	12	15	3		Missense_Mutation	SNP	ENST00000415258.1	37	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119574	0.56505	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.23950	1.88;1.88;1.9	5.47	5.47	0.80525	.	0.221842	0.45867	D	0.000327	T	0.26195	0.0639	L	0.36672	1.1	0.49051	D	0.999741	P;P	0.44195	0.828;0.828	B;B	0.40101	0.319;0.319	T	0.03945	-1.0990	10	0.87932	D	0	-14.1018	19.3305	0.94285	0.0:0.0:1.0:0.0	.	860;903	E9PHM2;Q15031	.;SYLM_HUMAN	Y	903;903;860	ENSP00000265537:D903Y;ENSP00000408576:D903Y;ENSP00000412893:D860Y	ENSP00000265537:D903Y	D	+	1	0	LARS2	45564021	1.000000	0.71417	0.993000	0.49108	0.111000	0.19643	9.230000	0.95299	2.562000	0.86427	0.563000	0.77884	GAT	.		0.577	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340	
SETD2	29072	broad.mit.edu;bcgsc.ca	37	3	47161746	47161746	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:47161746C>A	ENST00000409792.3	-	3	4422	c.4380G>T	c.(4378-4380)tgG>tgT	p.W1460C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1460					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CACATTCCTTCCATCGCTGTG	0.448			"""N, F, S, Mis"""		clear cell renal carcinoma																																p.W1460C		.		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	.	SETD2-1273	0			c.G4380T						.						142.0	134.0	136.0					3																	47161746		2203	4300	6503	SO:0001583	missense	29072	exon3			TTCCTTCCATCGC	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4380G>T	3.37:g.47161746C>A	ENSP00000386759:p.Trp1460Cys	90	2		60	24	NM_014159	0	0	3	5	2	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477161	0.63849	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.90197	-2.63	5.18	5.18	0.71444	.	0.000000	0.52532	D	0.000064	D	0.94463	0.8218	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94657	0.7844	10	0.72032	D	0.01	.	18.871	0.92315	0.0:1.0:0.0:0.0	.	1460;1460	F2Z317;Q9BYW2	.;SETD2_HUMAN	C	1460	ENSP00000386759:W1460C	ENSP00000386759:W1460C	W	-	3	0	SETD2	47136750	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.644000	0.83416	2.690000	0.91761	0.563000	0.77884	TGG	.		0.448	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	
PTPN23	25930	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	3	47454406	47454406	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:47454406C>A	ENST00000265562.4	+	25	4719	c.4642C>A	c.(4642-4644)Ctt>Att	p.L1548I	PTPN23_ENST00000431726.1_Missense_Mutation_p.L1422I	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1548	Pro-rich.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCGCCCCCCCTTTCCTCCCC	0.701																																					p.L1548I		.											.	PTPN23-227	0			c.C4642A						.						18.0	20.0	19.0					3																	47454406		2193	4289	6482	SO:0001583	missense	25930	exon25			CCCCCCCTTTCCT	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4642C>A	3.37:g.47454406C>A	ENSP00000265562:p.Leu1548Ile	27	0		30	16	NM_015466	0	0	0	1	1	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.491596	0.01009	.	.	ENSG00000076201	ENST00000265562	T	0.02525	4.26	4.2	3.31	0.37934	.	0.763966	0.11226	N	0.586144	T	0.01870	0.0059	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49173	-0.8967	10	0.17832	T	0.49	-1.9585	4.9923	0.14220	0.3796:0.521:0.0:0.0994	.	1548	Q9H3S7	PTN23_HUMAN	I	1548	ENSP00000265562:L1548I	ENSP00000265562:L1548I	L	+	1	0	PTPN23	47429410	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.757000	0.26433	0.940000	0.37473	-0.311000	0.09066	CTT	.		0.701	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466	
COL7A1	1294	broad.mit.edu;bcgsc.ca	37	3	48632594	48632594	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:48632594C>A	ENST00000328333.8	-	0	106				COL7A1_ENST00000454817.1_5'Flank	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGCGTCATCCTAGGCAGTAA	0.706																																					.		.											.	COL7A1-160	0			.						.						8.0	12.0	11.0					3																	48632594		2120	4140	6260			1294	.			GTCATCCTAGGCA	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541		3.37:g.48632594C>A		65	1		125	21	.	0	0	0	0	0	Q14054|Q16507	Translation_Start_Site	SNP	ENST00000328333.8	37	CCDS2773.1																																																																																			.		0.706	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	
USP19	10869	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	49147976	49147976	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:49147976G>T	ENST00000398888.2	-	24	3769	c.3451C>A	c.(3451-3453)Cta>Ata	p.L1151I	USP19_ENST00000453664.1_Missense_Mutation_p.L1242I|USP19_ENST00000398896.1_Missense_Mutation_p.L959I|USP19_ENST00000398898.2_Missense_Mutation_p.L1191I|USP19_ENST00000417901.1_Missense_Mutation_p.L1254I|USP19_ENST00000434032.2_Missense_Mutation_p.L1252I|USP19_ENST00000398892.3_Missense_Mutation_p.L1191I	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1151	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACAGCATATAGATCGTAGCTG	0.567																																					p.L1254I		.											.	USP19-663	0			c.C3760A						.						69.0	71.0	71.0					3																	49147976		2146	4255	6401	SO:0001583	missense	10869	exon25			CATATAGATCGTA	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3451C>A	3.37:g.49147976G>T	ENSP00000381863:p.Leu1151Ile	127	1		100	18	NM_001199161	0	0	24	27	3	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.314868	0.60524	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.27	4.39	0.52855	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.89550	0.6747	M	0.90705	3.14	0.47862	D	0.999534	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.997;0.994;0.999	D	0.91542	0.5250	10	0.87932	D	0	-12.3728	13.8316	0.63384	0.0737:0.0:0.9263:0.0	.	1252;1242;1151;1191;959	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	I	959;1191;1254;1242;1191;1151;1252	ENSP00000381870:L959I;ENSP00000381872:L1191I;ENSP00000395260:L1254I;ENSP00000400090:L1242I;ENSP00000381867:L1191I;ENSP00000381863:L1151I;ENSP00000401197:L1252I	ENSP00000381863:L1151I	L	-	1	2	USP19	49122980	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.212000	0.51145	1.355000	0.45865	0.561000	0.74099	CTA	.		0.567	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677	
APEH	327	bcgsc.ca	37	3	49722288	49722288	+	IGR	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:49722288C>A	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Missense_Mutation_p.W551L|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGTGCCCAACCATACCTCATA	0.572																																					p.W551L		.											.	MST1-278	0			c.G1652T						.						43.0	43.0	43.0					3																	49722288		2203	4298	6501	SO:0001628	intergenic_variant	4485	exon15			CCCAACCATACCT	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49722288C>A		258	3		270	27	NM_020998	0	0	23	23	0	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327109	0.41197	.	.	ENSG00000173531	ENST00000449682	D	0.88124	-2.34	5.5	5.5	0.81552	.	0.000000	0.38005	N	0.001852	T	0.67496	0.2899	N	0.02736	-0.51	0.80722	D	1	B	0.31625	0.332	B	0.29176	0.099	T	0.66806	-0.5830	10	0.23891	T	0.37	.	7.3987	0.26952	0.1681:0.7477:0.0:0.0842	.	551	G3XAK1	.	L	551	ENSP00000414287:W551L	ENSP00000414287:W551L	W	-	2	0	MST1	49697292	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	2.785000	0.47782	2.567000	0.86603	0.563000	0.77884	TGG	.		0.572	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2		
SLC38A3	10991	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	50256024	50256024	+	RNA	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:50256024G>T	ENST00000420502.1	+	0	1189									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		GCCTGCCACAGACGGGGTGGA	0.632																																					.		.											.	SLC38A3-67	0			c.1037-1G>T						.						45.0	51.0	49.0					3																	50256024		2140	4243	6383			10991	exon13			GCCACAGACGGGG	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"""Solute carriers"""	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50256024G>T		76	1		81	16	NM_006841	0	0	0	0	0		Splice_Site	SNP	ENST00000420502.1	37																																																																																				.		0.632	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841	
PBRM1	55193	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	52643651	52643651	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:52643651C>A	ENST00000296302.7	-	16	2246	c.2245G>T	c.(2245-2247)Gct>Tct	p.A749S	PBRM1_ENST00000356770.4_Missense_Mutation_p.A717S|PBRM1_ENST00000337303.4_Missense_Mutation_p.A749S|PBRM1_ENST00000409114.3_Missense_Mutation_p.A764S|PBRM1_ENST00000409057.1_Missense_Mutation_p.A749S|PBRM1_ENST00000409767.1_Missense_Mutation_p.A764S|PBRM1_ENST00000410007.1_Missense_Mutation_p.A749S|PBRM1_ENST00000394830.3_Missense_Mutation_p.A749S			Q86U86	PB1_HUMAN	polybromo 1	749					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K747fs*23(2)|p.K715fs*23(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGAACAAGAGCATCTTTGTAG	0.418			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																p.A749S		.		Rec	yes		3	3p21	55193	polybromo 1		E	.	PBRM1-575	3	Deletion - Frameshift(3)	kidney(3)	c.G2245T						.						109.0	107.0	108.0					3																	52643651		2203	4300	6503	SO:0001583	missense	55193	exon17			CAAGAGCATCTTT	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2245G>T	3.37:g.52643651C>A	ENSP00000296302:p.Ala749Ser	109	1		103	14	NM_018313	0	0	3	3	0	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	32	5.185638	0.94885	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	6.17	6.17	0.99709	Bromodomain (4);	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	M	0.72576	2.205	0.80722	D	1	D;D;D;P;P;D;D;D;P;D;D	0.89917	0.999;0.996;0.993;0.933;0.74;0.997;0.996;1.0;0.835;0.996;0.996	D;D;D;D;P;D;D;D;P;D;D	0.91635	0.999;0.991;0.989;0.93;0.824;0.998;0.997;0.999;0.746;0.997;0.997	T	0.66300	-0.5958	10	0.72032	D	0.01	-24.7671	20.8794	0.99867	0.0:1.0:0.0:0.0	.	749;124;749;749;749;749;764;764;749;717;749	Q86U86-9;Q6IRX1;Q86U86-6;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;.;.;PB1_HUMAN;.;.	S	717;749;749;749;749;749;764;764;749;708	ENSP00000349213:A717S;ENSP00000378307:A749S;ENSP00000296302:A749S;ENSP00000338302:A749S;ENSP00000386593:A749S;ENSP00000386529:A749S;ENSP00000386643:A764S;ENSP00000386601:A764S;ENSP00000387775:A749S;ENSP00000397662:A708S	ENSP00000296302:A749S	A	-	1	0	PBRM1	52618691	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.792000	0.85828	2.941000	0.99782	0.655000	0.94253	GCT	.		0.418	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	
ITIH3	3699	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	52841088	52841088	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:52841088G>T	ENST00000449956.2	+	19	2234	c.2228G>T	c.(2227-2229)aGc>aTc	p.S743I	ITIH3_ENST00000416872.2_Missense_Mutation_p.S551I	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	743					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGCACTTTCAGCTGGCTGGAC	0.557																																					p.S743I		.											.	ITIH3-93	0			c.G2228T						.						27.0	30.0	29.0					3																	52841088		2014	4168	6182	SO:0001583	missense	3699	exon19			CTTTCAGCTGGCT		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.2228G>T	3.37:g.52841088G>T	ENSP00000415769:p.Ser743Ile	153	1		134	24	NM_002217	0	0	2	3	1	Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880667	0.33255	.	.	ENSG00000162267	ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.12984	2.63;2.63	5.09	3.22	0.36961	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.289573	0.33792	N	0.004547	T	0.38401	0.1039	M	0.85197	2.74	0.28610	N	0.908734	D;P	0.71674	0.998;0.573	D;P	0.68943	0.961;0.598	T	0.34204	-0.9838	10	0.51188	T	0.08	-25.7014	13.3189	0.60423	0.0:0.3653:0.6347:0.0	.	551;743	E7ET33;Q06033	.;ITIH3_HUMAN	I	738;551;743	ENSP00000413922:S551I;ENSP00000415769:S743I	ENSP00000273291:S738I	S	+	2	0	ITIH3	52816128	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	0.860000	0.27871	1.131000	0.42111	0.555000	0.69702	AGC	.		0.557	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217	
FAM208A	23272	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	56702515	56702515	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:56702515C>A	ENST00000493960.2	-	6	817	c.807G>T	c.(805-807)ttG>ttT	p.L269F	FAM208A_ENST00000355628.5_Missense_Mutation_p.L269F	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	269							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GTGTGGGGTCCAAAGCACTCT	0.378																																					p.L269F		.											.	.	0			c.G807T						.						165.0	136.0	145.0					3																	56702515		692	1591	2283	SO:0001583	missense	23272	exon6			GGGGTCCAAAGCA	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.807G>T	3.37:g.56702515C>A	ENSP00000417509:p.Leu269Phe	123	1		97	52	NM_001112736	0	0	0	2	2	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363515	0.41902	.	.	ENSG00000163946	ENST00000493960;ENST00000355628	T;T	0.53206	0.63;0.63	5.69	5.69	0.88448	.	.	.	.	.	T	0.64649	0.2617	M	0.71581	2.175	0.49130	D	0.99975	D;P	0.65815	0.995;0.836	P;P	0.60286	0.872;0.626	T	0.67284	-0.5709	9	0.72032	D	0.01	-2.0701	15.0106	0.71547	0.0:0.9302:0.0:0.0698	.	269;269	Q9UK61-3;Q9UK61-4	.;.	F	269	ENSP00000417509:L269F;ENSP00000347845:L269F	ENSP00000347845:L269F	L	-	3	2	C3orf63	56677555	0.999000	0.42202	1.000000	0.80357	0.021000	0.10359	0.552000	0.23376	2.679000	0.91253	0.650000	0.86243	TTG	.		0.378	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224	
DENND6A	201627	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	57616535	57616535	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:57616535C>A	ENST00000311128.5	-	17	1494	c.1424G>T	c.(1423-1425)aGa>aTa	p.R475I	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	475					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										AAGAAACTGTCTTAATTGAGG	0.358																																					p.R475I		.											.	.	0			c.G1424T						.						77.0	76.0	76.0					3																	57616535		2203	4300	6503	SO:0001583	missense	201627	exon17			AACTGTCTTAATT	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1424G>T	3.37:g.57616535C>A	ENSP00000311401:p.Arg475Ile	26	0		29	6	NM_152678	0	0	0	0	0	Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	CCDS33773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.20|16.20	3.056587|3.056587	0.55325|0.55325	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000471531|ENST00000311128	.|.	.|.	.|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	.|0.088385	.|0.85682	.|D	.|0.000000	T|T	0.62527|0.62527	0.2435|0.2435	M|M	0.74258|0.74258	2.255|2.255	0.58432|0.58432	D|D	0.999998|0.999998	.|P	.|0.52577	.|0.954	.|P	.|0.48425	.|0.577	T|T	0.62220|0.62220	-0.6900|-0.6900	5|9	.|0.33940	.|T	.|0.23	-20.1004|-20.1004	10.6777|10.6777	0.45796|0.45796	0.0:0.8587:0.0:0.1413|0.0:0.8587:0.0:0.1413	.|.	.|475	.|Q8IWF6	.|F116A_HUMAN	N|I	46|475	.|.	.|ENSP00000311401:R475I	K|R	-|-	3|2	2|0	FAM116A|FAM116A	57591575|57591575	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	3.033000|3.033000	0.49743|0.49743	2.822000|2.822000	0.97130|0.97130	0.557000|0.557000	0.71058|0.71058	AAG|AGA	.		0.358	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678	
FLNB	2317	broad.mit.edu	37	3	58145372	58145372	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:58145372C>A	ENST00000295956.4	+	42	7145	c.6980C>A	c.(6979-6981)tCt>tAt	p.S2327Y	FLNB_ENST00000490882.1_Missense_Mutation_p.S2358Y|FLNB_ENST00000429972.2_Missense_Mutation_p.S2316Y|FLNB_ENST00000493452.1_Missense_Mutation_p.S2134Y|FLNB_ENST00000358537.3_Missense_Mutation_p.S2303Y|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000419752.2_Missense_Mutation_p.S2147Y|FLNB_ENST00000348383.5_Missense_Mutation_p.S2286Y|FLNB-AS1_ENST00000488720.1_RNA	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2327	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CACAGCCCCTCTGGAGCCGTG	0.547																																					p.S2358Y		.											.	FLNB-593	0			c.C7073A						.						36.0	38.0	37.0					3																	58145372		2203	4300	6503	SO:0001583	missense	2317	exon43			GCCCCTCTGGAGC	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6980C>A	3.37:g.58145372C>A	ENSP00000295956:p.Ser2327Tyr	52	2		36	8	NM_001164317	0	0	78	100	22	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796885	0.90453	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.86	5.86	0.93980	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.049195	0.85682	D	0.000000	D	0.94417	0.8204	H	0.95114	3.625	0.58432	D	0.999999	P;D;D;D;D;D	0.67145	0.947;0.996;0.98;0.996;0.98;0.98	P;D;D;D;D;D	0.74023	0.894;0.982;0.953;0.94;0.953;0.953	D	0.95404	0.8492	10	0.87932	D	0	.	14.4091	0.67103	0.0:0.9301:0.0:0.0699	.	2303;2358;2134;2147;2316;2327	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	Y	2327;2358;2303;2316;2286;2134;2147	ENSP00000295956:S2327Y;ENSP00000420213:S2358Y;ENSP00000351339:S2303Y;ENSP00000415599:S2316Y;ENSP00000232447:S2286Y;ENSP00000418510:S2134Y;ENSP00000414532:S2147Y	ENSP00000295956:S2327Y	S	+	2	0	FLNB	58120412	1.000000	0.71417	0.966000	0.40874	0.999000	0.98932	6.083000	0.71326	2.784000	0.95788	0.644000	0.83932	TCT	.		0.547	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
EPHA6	285220	ucsc.edu;bcgsc.ca	37	3	96706665	96706665	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:96706665C>A	ENST00000389672.5	+	3	980	c.942C>A	c.(940-942)acC>acA	p.T314T	EPHA6_ENST00000542517.1_Silent_p.T220T|EPHA6_ENST00000470610.2_Silent_p.T314T	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	220						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTCCTGATACCATTCCAAGGG	0.473																																					p.T314T		.											.	EPHA6-1561	0			c.C942A						.						213.0	215.0	214.0					3																	96706665		1982	4175	6157	SO:0001819	synonymous_variant	285220	exon3			TGATACCATTCCA	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.942C>A	3.37:g.96706665C>A		181	2		104	50	NM_001080448	0	0	0	0	0	D6RAL5	Silent	SNP	ENST00000389672.5	37	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	7.541	0.660765	0.14645	.	.	ENSG00000080224	ENST00000506569	.	.	.	5.47	0.308	0.15815	.	.	.	.	.	T	0.57651	0.2068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52997	-0.8500	4	.	.	.	.	10.1929	0.43037	0.0:0.4959:0.0:0.5041	.	.	.	.	N	259	.	.	H	+	1	0	EPHA6	98189355	0.034000	0.19679	1.000000	0.80357	0.998000	0.95712	-0.945000	0.03909	0.216000	0.20781	0.650000	0.86243	CAT	.		0.473	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448	
EPHA6	285220	broad.mit.edu;bcgsc.ca	37	3	97194260	97194260	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:97194260C>A	ENST00000514100.1	+	5	377	c.135C>A	c.(133-135)ttC>ttA	p.F45L	EPHA6_ENST00000442602.2_Missense_Mutation_p.F19L|EPHA6_ENST00000502694.1_Missense_Mutation_p.F45L|EPHA6_ENST00000389672.5_Missense_Mutation_p.F653L	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	559	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTGGCGGATTCACTCTCCTCG	0.418																																					p.F653L		.											.	EPHA6-1561	0			c.C1959A						.						85.0	87.0	86.0					3																	97194260		1922	4131	6053	SO:0001583	missense	285220	exon8			CGGATTCACTCTC	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.135C>A	3.37:g.97194260C>A	ENSP00000421711:p.Phe45Leu	75	2		56	21	NM_001080448	0	0	0	0	0	D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37		.	.	.	.	.	.	.	.	.	.	C	14.15	2.448184	0.43429	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;T;T;T	0.08546	3.08;3.08;3.08;3.08	6.07	4.3	0.51218	.	.	.	.	.	T	0.11665	0.0284	N	0.20401	0.57	0.45899	D	0.998746	D;P;D;D	0.71674	0.998;0.495;0.99;0.998	D;B;D;D	0.73380	0.978;0.122;0.979;0.98	T	0.31998	-0.9923	9	0.10636	T	0.68	.	8.9537	0.35805	0.0:0.7196:0.0:0.2804	.	19;558;45;45	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	L	653;45;45;19	ENSP00000374323:F653L;ENSP00000421711:F45L;ENSP00000423950:F45L;ENSP00000403100:F19L	ENSP00000374323:F653L	F	+	3	2	EPHA6	98676950	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	2.117000	0.41939	0.908000	0.36671	0.655000	0.94253	TTC	.		0.418	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448	
ATG3	64422	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	112257000	112257000	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:112257000G>T	ENST00000283290.5	-	8	937	c.503C>A	c.(502-504)aCa>aAa	p.T168K	ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000402314.2_Missense_Mutation_p.T168K	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	168					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						AACCTCATCTGTTTCCAACAA	0.269																																					p.T168K		.											.	ATG3-93	0			c.C503A						.						35.0	35.0	35.0					3																	112257000		2185	4270	6455	SO:0001583	missense	64422	exon8			TCATCTGTTTCCA		CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"""APG3 autophagy 3-like (S. cerevisiae)"", ""ATG3 autophagy related 3 homolog (S. cerevisiae)"""	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.503C>A	3.37:g.112257000G>T	ENSP00000283290:p.Thr168Lys	183	2		119	21	NM_022488	0	0	0	0	0	Q6PKC5|Q9H6L9	Missense_Mutation	SNP	ENST00000283290.5	37	CCDS2966.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173063	0.57584	.	.	ENSG00000144848	ENST00000283290;ENST00000402314;ENST00000492886	.	.	.	5.69	5.69	0.88448	.	0.093323	0.85682	D	0.000000	T	0.45558	0.1348	L	0.43152	1.355	0.52099	D	0.999947	P;B;B	0.41848	0.763;0.053;0.074	B;B;B	0.39738	0.308;0.158;0.098	T	0.30504	-0.9976	9	0.21540	T	0.41	-10.4916	14.6411	0.68726	0.0:0.0:0.8545:0.1455	.	81;168;168	C9JNW8;Q9NT62;Q9NT62-2	.;ATG3_HUMAN;.	K	168;168;81	.	ENSP00000283290:T168K	T	-	2	0	ATG3	113739690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.996000	0.70639	2.676000	0.91093	0.563000	0.77884	ACA	.		0.269	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354147.1	NM_022488	
LRRC58	116064	hgsc.bcm.edu	37	3	120068022	120068022	+	Silent	SNP	C	C	G	rs6770482	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:120068022C>G	ENST00000295628.3	-	1	164	c.69G>C	c.(67-69)gtG>gtC	p.V23V	RP11-174O3.3_ENST00000494869.1_RNA	NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	23										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		TCTCGGTGGACACGCTGAGGC	0.741													C|||	1050	0.209665	0.3933	0.2968	5008	,	,		12008	0.0962		0.0755	False		,,,				2504	0.1544				p.V23V		.											.	.	0			c.G69C						.	C		576,2498		28,520,989	2.0	2.0	2.0		69	4.5	1.0	3	dbSNP_116	2	392,6042		8,376,2833	no	coding-synonymous	LRRC58	NM_001099678.1		36,896,3822	GG,GC,CC		6.0926,18.7378,10.1809		23/372	120068022	968,8540	1537	3217	4754	SO:0001819	synonymous_variant	116064	exon1			GGTGGACACGCTG	BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.69G>C	3.37:g.120068022C>G		0	0		5	5	NM_001099678	0	0	0	0	0		Silent	SNP	ENST00000295628.3	37	CCDS46892.1																																																																																			C|0.826;G|0.174		0.741	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355142.1	XM_057296	
POLQ	10721	ucsc.edu;bcgsc.ca	37	3	121178920	121178920	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:121178920C>A	ENST00000264233.5	-	25	7257	c.7129G>T	c.(7129-7131)Gat>Tat	p.D2377Y		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2377					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGCCTCAGATCATCCCCAACA	0.393								DNA polymerases (catalytic subunits)																													p.D2377Y	Pancreas(152;907 1925 26081 31236 36904)	.											.	POLQ-664	0			c.G7129T						.						146.0	134.0	138.0					3																	121178920		2203	4300	6503	SO:0001583	missense	10721	exon25			TCAGATCATCCCC	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7129G>T	3.37:g.121178920C>A	ENSP00000264233:p.Asp2377Tyr	212	3		120	25	NM_199420	0	0	3	3	0	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995804	0.54147	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	D	0.96774	-4.12	5.07	2.15	0.27550	DNA-directed DNA polymerase, family A, palm domain (2);	0.822517	0.11702	N	0.537872	D	0.96093	0.8727	L	0.53561	1.675	0.23168	N	0.998188	P;D	0.61080	0.884;0.989	P;P	0.59643	0.715;0.861	D	0.89301	0.3626	10	0.87932	D	0	.	5.573	0.17208	0.0:0.5517:0.1383:0.31	.	2377;1549	O75417;O75417-2	DPOLQ_HUMAN;.	Y	2000;2377;2513	ENSP00000264233:D2377Y	ENSP00000264233:D2377Y	D	-	1	0	POLQ	122661610	0.003000	0.15002	0.993000	0.49108	0.953000	0.61014	0.081000	0.14823	0.707000	0.31934	0.591000	0.81541	GAT	.		0.393	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	
CASR	846	broad.mit.edu	37	3	121976121	121976121	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:121976121G>T	ENST00000490131.1	+	3	751	c.379G>T	c.(379-381)Gag>Tag	p.E127*	CASR_ENST00000498619.1_Nonsense_Mutation_p.E127*|CASR_ENST00000296154.5_Nonsense_Mutation_p.E127*	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	127			E -> A (in HYPOC1). {ECO:0000269|PubMed:7874174}.		anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GAACCTTGATGAGTTCTGCAA	0.493																																					p.E127X		.											.	CASR-97	0			c.G379T	GRCh37	CM013356	CASR	M		.						118.0	113.0	115.0					3																	121976121		2203	4300	6503	SO:0001587	stop_gained	846	exon3			CTTGATGAGTTCT	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.379G>T	3.37:g.121976121G>T	ENSP00000418685:p.Glu127*	91	2		78	15	NM_001178065	0	0	0	0	0	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Nonsense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	36	5.614704	0.96649	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	18.936	0.92586	0.0:0.0:1.0:0.0	.	.	.	.	X	127	.	ENSP00000296154:E127X	E	+	1	0	CASR	123458811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.712000	0.92718	0.591000	0.81541	GAG	.		0.493	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388	
PLXNA1	5361	hgsc.bcm.edu	37	3	126733053	126733053	+	Silent	SNP	C	C	T	rs11719489	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:126733053C>T	ENST00000393409.2	+	11	2439	c.2439C>T	c.(2437-2439)cgC>cgT	p.R813R	PLXNA1_ENST00000251772.4_Silent_p.R790R	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	813					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGGCCCTGCGCGAGAGCTGCG	0.741													C|||	327	0.0652955	0.0809	0.0793	5008	,	,		11902	0.002		0.1402	False		,,,				2504	0.0225				p.R813R		.											.	PLXNA1-93	0			c.C2439T						.			339,4057		23,293,1882	18.0	21.0	20.0		2439	-4.7	0.9	3	dbSNP_120	20	1112,7424		88,936,3244	no	coding-synonymous	PLXNA1	NM_032242.3		111,1229,5126	TT,TC,CC		13.0272,7.7116,11.2202		813/1897	126733053	1451,11481	2198	4268	6466	SO:0001819	synonymous_variant	5361	exon11			CCTGCGCGAGAGC	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2439C>T	3.37:g.126733053C>T		0	0		37	37	NM_032242	0	0	0	1	1		Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																			C|0.900;T|0.100		0.741	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242	
BFSP2	8419	broad.mit.edu	37	3	133169164	133169164	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:133169164C>A	ENST00000302334.2	+	4	836	c.747C>A	c.(745-747)caC>caA	p.H249Q	BFSP2_ENST00000511434.1_3'UTR|BFSP2-AS1_ENST00000515542.1_RNA	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	249	Rod.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AGCTGCTGCACAAACAGTTGG	0.468																																					p.H249Q		.											.	BFSP2-90	0			c.C747A						.						111.0	101.0	105.0					3																	133169164		2203	4300	6503	SO:0001583	missense	8419	exon4			GCTGCACAAACAG	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.747C>A	3.37:g.133169164C>A	ENSP00000304987:p.His249Gln	109	0		111	3	NM_003571	0	0	0	0	0	Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	2.162	-0.391872	0.04932	.	.	ENSG00000170819	ENST00000302334	D	0.87103	-2.21	5.02	3.12	0.35913	Filament (1);	0.335383	0.25860	N	0.027834	T	0.64538	0.2607	N	0.01277	-0.915	0.23673	N	0.997142	B	0.06786	0.001	B	0.10450	0.005	T	0.55049	-0.8201	10	0.23302	T	0.38	-4.0357	8.3888	0.32516	0.0:0.7455:0.0:0.2545	.	249	Q13515	BFSP2_HUMAN	Q	249	ENSP00000304987:H249Q	ENSP00000304987:H249Q	H	+	3	2	BFSP2	134651854	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	0.710000	0.25748	0.624000	0.30286	-0.221000	0.12465	CAC	.		0.468	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1		
PIK3CB	5291	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	138478043	138478043	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:138478043C>A	ENST00000477593.1	-	2	216	c.143G>T	c.(142-144)cGg>cTg	p.R48L	PIK3CB_ENST00000289153.2_Missense_Mutation_p.R48L			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	48	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	GGTAGCTTCCCGAGGTACCTC	0.408																																					p.R48L		.											.	PIK3CB-1311	0			c.G143T						.						61.0	59.0	60.0					3																	138478043		2203	4300	6503	SO:0001583	missense	5291	exon1			GCTTCCCGAGGTA		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.143G>T	3.37:g.138478043C>A	ENSP00000418143:p.Arg48Leu	239	1		170	22	NM_006219	0	0	0	0	0	D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321471	0.81580	.	.	ENSG00000051382	ENST00000477593;ENST00000289153;ENST00000483968;ENST00000461451;ENST00000465581	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.84	5.84	0.93424	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	T	0.73418	0.3584	M	0.73962	2.25	0.80722	D	1	B	0.29646	0.253	B	0.35278	0.199	T	0.68891	-0.5289	10	0.10636	T	0.68	-15.982	20.1551	0.98106	0.0:1.0:0.0:0.0	.	48	P42338	PK3CB_HUMAN	L	48	ENSP00000418143:R48L;ENSP00000289153:R48L;ENSP00000419857:R48L;ENSP00000420399:R48L	ENSP00000289153:R48L	R	-	2	0	PIK3CB	139960733	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	5.691000	0.68249	2.760000	0.94817	0.655000	0.94253	CGG	.		0.408	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1		
NMNAT3	349565	ucsc.edu;bcgsc.ca	37	3	139292460	139292460	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:139292460G>T	ENST00000296202.7	-	5	737	c.356C>A	c.(355-357)gCa>gAa	p.A119E	NMNAT3_ENST00000339837.5_Missense_Mutation_p.A82E|NMNAT3_ENST00000511444.1_Intron|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000406824.1_Missense_Mutation_p.A9E|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000406164.1_Missense_Mutation_p.A82E|NMNAT3_ENST00000512391.1_Intron|NMNAT3_ENST00000413939.2_Intron			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	119					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CGAGAAGAGTGCCTTGCCATG	0.537																																					p.A82E		.											.	NMNAT3-90	0			c.C245A						.						218.0	175.0	190.0					3																	139292460		2203	4300	6503	SO:0001583	missense	349565	exon4			AAGAGTGCCTTGC	AF345564	CCDS3111.1, CCDS56282.1	3q23	2013-09-20			ENSG00000163864	ENSG00000163864			20989	protein-coding gene	gene with protein product		608702				12574164	Standard	NM_178177		Approved	PNAT3	uc003etk.3	Q96T66	OTTHUMG00000159951	ENST00000296202.7:c.356C>A	3.37:g.139292460G>T	ENSP00000296202:p.Ala119Glu	159	2		115	51	NM_178177	0	0	0	7	7	B3KVR6|D3DNF2|D3DNF3|Q8N4G1	Missense_Mutation	SNP	ENST00000296202.7	37		.	.	.	.	.	.	.	.	.	.	G	1.439	-0.568127	0.03910	.	.	ENSG00000163864	ENST00000406164;ENST00000406824;ENST00000339837;ENST00000296202	D;D;D;D	0.97455	-4.17;-3.97;-4.17;-4.39	4.15	1.3	0.21679	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	1.960190	0.01805	N	0.033132	D	0.92499	0.7618	N	0.24115	0.695	0.09310	N	1	B	0.15141	0.012	B	0.19666	0.026	D	0.84620	0.0683	10	0.13108	T	0.6	0.0102	3.8737	0.09047	0.2038:0.0:0.6082:0.188	.	119	Q96T66	NMNA3_HUMAN	E	82;9;82;119	ENSP00000384319:A82E;ENSP00000384684:A9E;ENSP00000340523:A82E;ENSP00000296202:A119E	ENSP00000296202:A119E	A	-	2	0	NMNAT3	140775150	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	0.611000	0.24268	0.273000	0.22049	0.467000	0.42956	GCA	.		0.537	NMNAT3-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000358469.1	NM_178177	
PAQR9	344838	ucsc.edu;bcgsc.ca	37	3	142681441	142681441	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:142681441G>T	ENST00000340634.3	-	1	737	c.738C>A	c.(736-738)gtC>gtA	p.V246V	RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	246						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GCATGACGAAGACGAAGGTGC	0.632																																					p.V246V		.											.	PAQR9-68	0			c.C738A						.						84.0	82.0	83.0					3																	142681441		2203	4300	6503	SO:0001819	synonymous_variant	344838	exon1			GACGAAGACGAAG	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.738C>A	3.37:g.142681441G>T		228	2		267	43	NM_198504	0	0	0	0	0	Q147T6	Silent	SNP	ENST00000340634.3	37	CCDS3128.1																																																																																			.		0.632	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504	
ZIC1	7545	hgsc.bcm.edu	37	3	147127937	147127937	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:147127937G>T	ENST00000282928.4	+	1	767	c.38G>T	c.(37-39)gGc>gTc	p.G13V		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	13					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CCAGCGATCGGCGTGACCACC	0.761																																					p.G13V		.											.	ZIC1-91	0			c.G38T						.						14.0	16.0	16.0					3																	147127937		2168	4257	6425	SO:0001583	missense	7545	exon1			CGATCGGCGTGAC	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.38G>T	3.37:g.147127937G>T	ENSP00000282928:p.Gly13Val	4	0		28	6	NM_003412	0	0	0	0	0	Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227902	0.58777	.	.	ENSG00000152977	ENST00000282928	T	0.26067	1.76	3.36	2.45	0.29901	.	0.000000	0.85682	D	0.000000	T	0.42810	0.1219	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	P	0.61874	0.895	T	0.31530	-0.9940	10	0.52906	T	0.07	.	11.6198	0.51111	0.0:0.0:0.8206:0.1794	.	13	Q15915	ZIC1_HUMAN	V	13	ENSP00000282928:G13V	ENSP00000282928:G13V	G	+	2	0	ZIC1	148610627	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.348000	0.73009	0.587000	0.29643	0.442000	0.29010	GGC	.		0.761	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412	
CPB1	1360	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	148575243	148575243	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:148575243G>T	ENST00000491148.1	+	11	1315		c.e11-1		CPB1_ENST00000282957.4_Splice_Site|CPB1_ENST00000498639.1_Splice_Site|RP11-680B3.2_ENST00000488190.1_RNA			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)							extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTCTTTTGCAGAATGCCCTGG	0.418																																					.		.											.	CPB1-92	0			c.982-1G>T						.						111.0	102.0	105.0					3																	148575243		2203	4300	6503	SO:0001630	splice_region_variant	1360	exon10			TTTGCAGAATGCC	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.982-1G>T	3.37:g.148575243G>T		93	0		83	7	NM_001871	0	0	3	3	0	O60834|Q53XJ0|Q96BQ8	Splice_Site	SNP	ENST00000491148.1	37	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.327076	0.24080	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1153	0.93336	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPB1	150057933	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	8.554000	0.90689	2.857000	0.98124	0.650000	0.86243	.	.		0.418	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871	Intron
TSC22D2	9819	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	150128968	150128968	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:150128968G>T	ENST00000361875.3	+	1	2847	c.1831G>T	c.(1831-1833)Gaa>Taa	p.E611*	TSC22D2_ENST00000361136.2_Nonsense_Mutation_p.E611*	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	611					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCTCATTGCTGAAAATAAGCC	0.483																																					p.E611X		.											.	TSC22D2-91	0			c.G1831T						.						90.0	99.0	96.0					3																	150128968		2203	4300	6503	SO:0001587	stop_gained	9819	exon1			ATTGCTGAAAATA	AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.1831G>T	3.37:g.150128968G>T	ENSP00000354543:p.Glu611*	122	1		98	35	NM_014779	0	0	1	8	7	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Nonsense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.297019|6.297019	0.97453|0.97453	.|.	.|.	ENSG00000196428|ENSG00000196428	ENST00000543241;ENST00000361875;ENST00000361136|ENST00000466814	.|.	.|.	.|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.109142|.	0.37437|.	N|.	0.002086|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.40728|.	T|.	0.16|.	.|.	18.0862|18.0862	0.89458|0.89458	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	84;611;611|58	.|.	ENSP00000354893:E611X|.	E|X	+|+	1|2	0|2	TSC22D2|TSC22D2	151611658|151611658	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.988000|0.988000	0.76386|0.76386	6.372000|6.372000	0.73123|0.73123	2.367000|2.367000	0.80283|0.80283	0.456000|0.456000	0.33151|0.33151	GAA|TGA	.		0.483	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779	
PTX3	5806	broad.mit.edu;ucsc.edu	37	3	157160724	157160724	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:157160724G>T	ENST00000295927.3	+	3	1247	c.1102G>T	c.(1102-1104)Gtc>Ttc	p.V368F	VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	368	Pentaxin.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGGGTGGGGAGTCACAGAGAT	0.448																																					p.V368F		.											.	PTX3-514	0			c.G1102T						.						61.0	67.0	65.0					3																	157160724		2203	4300	6503	SO:0001583	missense	5806	exon3			TGGGGAGTCACAG	X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"""pentaxin-related gene, rapidly induced by IL-1 beta"", ""tumor necrosis factor, alpha-induced protein 5"", ""pentraxin-related gene, rapidly induced by IL-1 beta"""	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.1102G>T	3.37:g.157160724G>T	ENSP00000295927:p.Val368Phe	73	1		43	4	NM_002852	0	0	1	1	0	B2R6T6|Q38M82	Missense_Mutation	SNP	ENST00000295927.3	37	CCDS3180.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854206	0.71719	.	.	ENSG00000163661	ENST00000295927	T	0.58797	0.31	5.71	4.83	0.62350	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.238464	0.43110	D	0.000616	T	0.73202	0.3557	M	0.76838	2.35	0.53688	D	0.999973	D	0.71674	0.998	D	0.75484	0.986	T	0.74262	-0.3722	10	0.52906	T	0.07	-34.3478	10.3403	0.43873	0.1453:0.0:0.8547:0.0	.	368	P26022	PTX3_HUMAN	F	368	ENSP00000295927:V368F	ENSP00000295927:V368F	V	+	1	0	PTX3	158643418	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.629000	0.67798	2.687000	0.91594	0.655000	0.94253	GTC	.		0.448	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352028.1	NM_002852	
IQCJ-SCHIP1	100505385	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	159605617	159605617	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:159605617G>T	ENST00000460298.1	+	5	1238	c.997G>T	c.(997-999)Gcc>Tcc	p.A333S	IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.A141S|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.A422S|SCHIP1_ENST00000482804.1_Missense_Mutation_p.A146S|SCHIP1_ENST00000445224.2_Missense_Mutation_p.A130S|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.A360S|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.A449S|IQCJ-SCHIP1_ENST00000337808.6_Missense_Mutation_p.A373S					IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AATGGCCCTTGCCATGGCCAA	0.453																																					p.A449S		.											.	.	0			c.G1345T						.						91.0	94.0	93.0					3																	159605617		2203	4300	6503	SO:0001583	missense	100505385	exon8			GCCCTTGCCATGG		CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.997G>T	3.37:g.159605617G>T	ENSP00000417305:p.Ala333Ser	187	2		153	16	NM_001197113	0	0	2	2	0		Missense_Mutation	SNP	ENST00000460298.1	37		.	.	.	.	.	.	.	.	.	.	G	34	5.291483	0.95546	.	.	ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000151967;ENSG00000151967	ENST00000476809;ENST00000485419;ENST00000337808;ENST00000412423;ENST00000527095;ENST00000460298;ENST00000445224;ENST00000482804	T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	L	0.55990	1.75	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;0.996;0.999;0.999;1.0	D;D;D;D;D;D	0.87578	0.998;0.994;0.986;0.994;0.997;0.996	T	0.69580	-0.5107	10	0.49607	T	0.09	.	18.8029	0.92025	0.0:0.0:1.0:0.0	.	333;146;130;360;373;449	C9J366;C9JWG6;Q9P0W5-4;Q9P0W5-2;Q9P0W5;Q9P0W5-5	.;.;.;.;SCHI1_HUMAN;.	S	422;449;373;360;141;333;130;146	ENSP00000418692:A422S;ENSP00000420182:A449S;ENSP00000337239:A373S;ENSP00000400942:A360S;ENSP00000436076:A141S;ENSP00000417305:A333S;ENSP00000404860:A130S;ENSP00000419230:A146S	ENSP00000337239:A373S	A	+	1	0	SCHIP1;IQCJ-SCHIP1	161088311	1.000000	0.71417	0.978000	0.43139	0.991000	0.79684	9.282000	0.95840	2.520000	0.84964	0.655000	0.94253	GCC	.		0.453	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000352558.2	NM_001197113	
KPNA4	3840	broad.mit.edu	37	3	160243877	160243877	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:160243877C>A	ENST00000334256.4	-	9	880	c.575G>T	c.(574-576)aGa>aTa	p.R192I		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	192	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GACATAATCTCTACACTGGGG	0.348																																					p.R192I		.											.	KPNA4-226	0			c.G575T						.						106.0	112.0	110.0					3																	160243877		2203	4300	6503	SO:0001583	missense	3840	exon9			TAATCTCTACACT	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.575G>T	3.37:g.160243877C>A	ENSP00000334373:p.Arg192Ile	266	2		187	6	NM_002268	0	0	8	9	1	A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921531	0.92249	.	.	ENSG00000186432	ENST00000334256	T	0.69175	-0.38	4.97	4.97	0.65823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89040	0.6602	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93099	0.6507	10	0.87932	D	0	-5.0406	18.4275	0.90614	0.0:1.0:0.0:0.0	.	192	O00629	IMA4_HUMAN	I	192	ENSP00000334373:R192I	ENSP00000334373:R192I	R	-	2	0	KPNA4	161726571	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.604000	0.82830	2.578000	0.87016	0.655000	0.94253	AGA	.		0.348	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268	
B3GALNT1	8706	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	160804280	160804280	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:160804280G>T	ENST00000392781.2	-	8	1010	c.263C>A	c.(262-264)cCt>cAt	p.P88H	B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.P88H|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.P88H|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.P88H|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.P88H|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.P88H	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	88					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.P88H(1)		breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			CACATCTGAAGGGTGGGAGGT	0.433																																					p.P88H		.											.	B3GALNT1-91	1	Substitution - Missense(1)	lung(1)	c.C263A						.						82.0	86.0	84.0					3																	160804280		2203	4300	6503	SO:0001583	missense	8706	exon8			TCTGAAGGGTGGG	Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"""Blood group antigens"", ""Beta 3-glycosyltransferases"""	918	protein-coding gene	gene with protein product	"""globoside synthase"", ""P antigen synthase"""	603094	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)"", ""UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"""	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.263C>A	3.37:g.160804280G>T	ENSP00000376532:p.Pro88His	36	0		46	22	NM_001038628	0	0	0	0	0	D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Missense_Mutation	SNP	ENST00000392781.2	37	CCDS3193.1	.	.	.	.	.	.	.	.	.	.	G	9.159	1.018158	0.19355	.	.	ENSG00000169255	ENST00000320474;ENST00000392779;ENST00000392780;ENST00000392781;ENST00000473285;ENST00000488170;ENST00000468268	T;T;T;T;T;T;T	0.53206	0.82;0.82;0.82;0.82;0.82;0.82;0.63	5.73	5.73	0.89815	.	0.093337	0.48286	D	0.000187	T	0.28134	0.0694	N	0.24115	0.695	0.42653	D	0.993458	P	0.43094	0.799	B	0.33750	0.169	T	0.13202	-1.0518	10	0.09843	T	0.71	.	13.8015	0.63204	0.0:0.0:0.8469:0.1531	.	88	O75752	B3GL1_HUMAN	H	88	ENSP00000323479:P88H;ENSP00000376530:P88H;ENSP00000376531:P88H;ENSP00000376532:P88H;ENSP00000418226:P88H;ENSP00000420163:P88H;ENSP00000419476:P88H	ENSP00000323479:P88H	P	-	2	0	B3GALNT1	162286974	0.997000	0.39634	0.999000	0.59377	0.976000	0.68499	2.588000	0.46137	2.701000	0.92244	0.561000	0.74099	CCT	.		0.433	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167	
ZBBX	79740	ucsc.edu;bcgsc.ca	37	3	167033573	167033573	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:167033573G>T	ENST00000392766.2	-	15	1579	c.1239C>A	c.(1237-1239)taC>taA	p.Y413*	ZBBX_ENST00000392764.1_Nonsense_Mutation_p.Y384*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.Y413*|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.Y413*|ZBBX_ENST00000469220.1_5'Flank|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.Y413*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	413						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATTTAACTTTGTAAGGCACAA	0.299																																					p.Y413X		.											.	ZBBX-92	0			c.C1239A						.						74.0	72.0	73.0					3																	167033573		1819	4078	5897	SO:0001587	stop_gained	79740	exon15			AACTTTGTAAGGC	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1239C>A	3.37:g.167033573G>T	ENSP00000376519:p.Tyr413*	234	2		142	19	NM_024687	0	0	0	0	0	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Nonsense_Mutation	SNP	ENST00000392766.2	37	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	38	7.103968	0.98066	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	.	.	.	5.84	3.02	0.34903	.	0.071675	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1791	7.5245	0.27647	0.2796:0.0:0.7204:0.0	.	.	.	.	X	413;413;413;413;384	.	ENSP00000305065:Y413X	Y	-	3	2	ZBBX	168516267	1.000000	0.71417	0.997000	0.53966	0.633000	0.38033	0.773000	0.26661	0.339000	0.23719	0.650000	0.86243	TAC	.		0.299	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687	
LRRC34	151827	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	169514567	169514567	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:169514567G>T	ENST00000316515.7	-	7	1015	c.739C>A	c.(739-741)Ctg>Atg	p.L247M	LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000522830.1_Missense_Mutation_p.L231M|LRRC34_ENST00000446859.1_Missense_Mutation_p.L292M|LRRC34_ENST00000522526.2_Missense_Mutation_p.L260M|RP11-362K14.7_ENST00000602913.1_RNA|RP11-362K14.6_ENST00000602835.1_RNA	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	247										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CTACTGTTCAGATACAGTGCA	0.338																																					p.L292M		.											.	LRRC34-90	0			c.C874A						.						134.0	111.0	118.0					3																	169514567		2203	4300	6503	SO:0001583	missense	151827	exon8			TGTTCAGATACAG	AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.739C>A	3.37:g.169514567G>T	ENSP00000326150:p.Leu247Met	161	2		105	19	NM_001172779	0	0	0	0	0	B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	ENST00000316515.7	37		.	.	.	.	.	.	.	.	.	.	G	9.263	1.043680	0.19748	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526;ENST00000528597	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.9	5.97	-3.14	0.05250	.	1.269890	0.05149	N	0.495679	T	0.51787	0.1695	L	0.51422	1.61	0.09310	N	1	P;P;P;D;P	0.54397	0.855;0.664;0.704;0.966;0.93	B;B;P;P;B	0.54401	0.38;0.201;0.452;0.751;0.38	T	0.50074	-0.8870	10	0.30078	T	0.28	1.1552	3.0122	0.06048	0.2079:0.4547:0.1649:0.1725	.	279;231;231;292;247	B4DHF2;B3KT77;G3V115;G5E9T7;Q8IZ02	.;.;.;.;LRC34_HUMAN	M	292;247;231;260;41	ENSP00000414635:L292M;ENSP00000326150:L247M;ENSP00000429593:L231M;ENSP00000429278:L260M;ENSP00000436883:L41M	ENSP00000326150:L247M	L	-	1	2	LRRC34	170997261	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	-0.020000	0.12525	-0.090000	0.12462	-1.163000	0.01768	CTG	.		0.338	LRRC34-201	KNOWN	basic	protein_coding	protein_coding		NM_153353	
SLC7A14	57709	broad.mit.edu	37	3	170198352	170198352	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:170198352G>T	ENST00000231706.5	-	7	2034	c.1719C>A	c.(1717-1719)ttC>ttA	p.F573L	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	573					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ACATGAGGATGAAGAGCAGGA	0.542																																					p.F573L		.											.	SLC7A14-94	0			c.C1719A						.						92.0	82.0	85.0					3																	170198352		2203	4300	6503	SO:0001583	missense	57709	exon7			GAGGATGAAGAGC	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1719C>A	3.37:g.170198352G>T	ENSP00000231706:p.Phe573Leu	87	2		63	10	NM_020949	0	0	0	0	0	B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878963	0.51801	.	.	ENSG00000013293	ENST00000231706	D	0.87412	-2.25	5.6	4.54	0.55810	.	0.043340	0.85682	D	0.000000	D	0.85296	0.5664	L	0.56769	1.78	0.58432	D	0.999994	D	0.55172	0.97	P	0.48627	0.584	T	0.81547	-0.0883	10	0.09590	T	0.72	.	12.6588	0.56801	0.1482:0.0:0.8518:0.0	.	573	Q8TBB6	S7A14_HUMAN	L	573	ENSP00000231706:F573L	ENSP00000231706:F573L	F	-	3	2	SLC7A14	171681046	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.296000	0.33389	2.627000	0.88993	0.655000	0.94253	TTC	.		0.542	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949	
TNIK	23043	broad.mit.edu	37	3	170928941	170928941	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:170928941G>T	ENST00000436636.2	-	4	614	c.270C>A	c.(268-270)atC>atA	p.I90I	TNIK_ENST00000538048.1_Silent_p.I90I|TNIK_ENST00000284483.8_Silent_p.I90I|TNIK_ENST00000341852.6_Silent_p.I90I|TNIK_ENST00000488470.1_Silent_p.I90I|TNIK_ENST00000470834.1_Silent_p.I90I|TNIK_ENST00000460047.1_Silent_p.I90I|TNIK_ENST00000357327.5_Silent_p.I90I|TNIK_ENST00000369326.5_Silent_p.I90I|TNIK_ENST00000475336.1_Silent_p.I90I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGTTCTTTTTGATAAAAGCAC	0.358																																					p.I90I		.											.	TNIK-550	0			c.C270A						.						120.0	116.0	117.0					3																	170928941		1830	4096	5926	SO:0001819	synonymous_variant	23043	exon4			CTTTTTGATAAAA	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.270C>A	3.37:g.170928941G>T		56	2		51	6	NM_001161562	0	0	3	3	0	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	CCDS46956.1																																																																																			.		0.358	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
ECT2	1894	broad.mit.edu	37	3	172520657	172520657	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:172520657C>G	ENST00000392692.3	+	20	2169	c.1993C>G	c.(1993-1995)Ctt>Gtt	p.L665V	ECT2_ENST00000417960.1_Missense_Mutation_p.L633V|ECT2_ENST00000441497.2_Missense_Mutation_p.L634V|ECT2_ENST00000427830.1_Missense_Mutation_p.L634V|ECT2_ENST00000540509.1_Missense_Mutation_p.L665V|ECT2_ENST00000232458.5_Missense_Mutation_p.L634V	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	665					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ACAGGCTAATCTTTTATCTTC	0.353																																					p.L665V		.											.	ECT2-724	0			c.C1993G						.						67.0	66.0	66.0					3																	172520657		2203	4300	6503	SO:0001583	missense	1894	exon20			GCTAATCTTTTAT	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1993C>G	3.37:g.172520657C>G	ENSP00000376457:p.Leu665Val	43	2		35	6	NM_001258315	0	0	0	0	0	Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	CCDS58860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.91|13.91	2.379488|2.379488	0.42207|0.42207	.|.	.|.	ENSG00000114346|ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509|ENST00000437296	T;T;T;T;T;T|.	0.39229|.	1.09;1.09;1.09;1.09;1.09;1.09|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Pleckstrin homology-type (1);Pleckstrin homology domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68265|0.68265	0.2982|0.2982	L|L	0.41632|0.41632	1.29|1.29	0.80722|0.80722	D|D	1|1	P;P;D;D;D|.	0.54397|.	0.942;0.876;0.966;0.966;0.966|.	P;B;P;P;P|.	0.54270|.	0.638;0.338;0.664;0.664;0.747|.	T|T	0.61491|0.61491	-0.7052|-0.7052	10|5	0.54805|.	T|.	0.06|.	-19.5626|-19.5626	20.3368|20.3368	0.98748|0.98748	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	665;110;665;634;633|.	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2|.	ECT2_HUMAN;.;.;.;.|.	V|C	634;665;634;633;634;665|4	ENSP00000232458:L634V;ENSP00000376457:L665V;ENSP00000401910:L634V;ENSP00000415876:L633V;ENSP00000412259:L634V;ENSP00000443160:L665V|.	ENSP00000232458:L634V|.	L|S	+|+	1|2	0|0	ECT2|ECT2	174003351|174003351	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.625000|0.625000	0.37756|0.37756	2.844000|2.844000	0.48246|0.48246	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	CTT|TCT	.		0.353	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098	
NAALADL2	254827	bcgsc.ca	37	3	175189492	175189492	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:175189492G>T	ENST00000454872.1	+	9	1727	c.1599G>T	c.(1597-1599)ggG>ggT	p.G533G	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	533						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCATAAGGGGGAACTCTAGTC	0.383																																					p.G533G		.											.	NAALADL2-47	0			c.G1599T						.						80.0	72.0	74.0					3																	175189492		1841	4095	5936	SO:0001819	synonymous_variant	254827	exon9			AAGGGGGAACTCT		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1599G>T	3.37:g.175189492G>T		265	5		137	56	NM_207015	0	0	0	0	0	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	ENST00000454872.1	37	CCDS46960.1																																																																																			.		0.383	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015	
USP13	8975	ucsc.edu	37	3	179483602	179483602	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:179483602G>T	ENST00000263966.3	+	19	2850	c.2379G>T	c.(2377-2379)aaG>aaT	p.K793N	USP13_ENST00000496897.1_Missense_Mutation_p.K728N	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	793	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CTGAGGCCAAGCCCGAAGGAC	0.458																																					p.K793N		.											.	USP13-659	0			c.G2379T						.						112.0	108.0	109.0					3																	179483602		2203	4300	6503	SO:0001583	missense	8975	exon19			GGCCAAGCCCGAA	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.2379G>T	3.37:g.179483602G>T	ENSP00000263966:p.Lys793Asn	123	2		76	11	NM_003940	0	0	5	7	2	A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.294072	0.23564	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.15017	2.46;2.47	5.61	-0.779	0.10973	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.326058	0.33753	N	0.004585	T	0.05227	0.0139	N	0.03608	-0.345	0.30345	N	0.785328	B	0.13594	0.008	B	0.17979	0.02	T	0.21586	-1.0241	10	0.27082	T	0.32	-26.0116	3.3717	0.07223	0.4403:0.1032:0.3512:0.1052	.	793	Q92995	UBP13_HUMAN	N	793;728	ENSP00000263966:K793N;ENSP00000417146:K728N	ENSP00000263966:K793N	K	+	3	2	USP13	180966296	0.994000	0.37717	0.995000	0.50966	0.969000	0.65631	0.160000	0.16462	0.063000	0.16370	0.655000	0.94253	AAG	.		0.458	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1		
TTC14	151613	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	180324359	180324359	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:180324359C>A	ENST00000296015.4	+	9	1272	c.1140C>A	c.(1138-1140)taC>taA	p.Y380*	TTC14_ENST00000382584.4_Nonsense_Mutation_p.Y380*|TTC14_ENST00000412756.2_Nonsense_Mutation_p.Y380*	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	380							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CAAGAAAATACCTCTGCCAGA	0.358																																					p.Y380X		.											.	TTC14-91	0			c.C1140A						.						117.0	123.0	121.0					3																	180324359		2203	4300	6503	SO:0001587	stop_gained	151613	exon9			AAAATACCTCTGC	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1140C>A	3.37:g.180324359C>A	ENSP00000296015:p.Tyr380*	100	0		91	9	NM_001042601	0	0	3	3	0	G5E9X0|Q6UWJ7|Q8TF22	Nonsense_Mutation	SNP	ENST00000296015.4	37	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	C	36	5.830245	0.96996	.	.	ENSG00000163728	ENST00000296015;ENST00000412756;ENST00000382584	.	.	.	5.93	3.17	0.36434	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9268	9.9834	0.41828	0.0:0.6629:0.0:0.3371	.	.	.	.	X	380	.	ENSP00000296015:Y380X	Y	+	3	2	TTC14	181807053	0.989000	0.36119	1.000000	0.80357	0.996000	0.88848	0.339000	0.19875	0.394000	0.25230	-0.136000	0.14681	TAC	.		0.358	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462	
EHHADH	1962	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	184910464	184910464	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:184910464C>A	ENST00000231887.3	-	7	1797	c.1722G>T	c.(1720-1722)aaG>aaT	p.K574N	EHHADH-AS1_ENST00000417720.1_RNA|EHHADH_ENST00000456310.1_Missense_Mutation_p.K478N	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	574					fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			CCTTACCTGTCTTCTGGCCAA	0.463																																					p.K574N		.											.	EHHADH-93	0			c.G1722T						.						89.0	79.0	83.0					3																	184910464		2203	4300	6503	SO:0001583	missense	1962	exon7			ACCTGTCTTCTGG	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1722G>T	3.37:g.184910464C>A	ENSP00000231887:p.Lys574Asn	93	0		89	30	NM_001966	0	0	3	3	0	A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192847	0.58017	.	.	ENSG00000113790	ENST00000231887;ENST00000456310	D;D	0.92149	-2.98;-2.98	5.91	5.04	0.67666	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.131389	0.64402	D	0.000002	D	0.97052	0.9037	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97061	0.9771	10	0.87932	D	0	-23.4549	9.188	0.37182	0.0:0.7384:0.0:0.2616	.	574	Q08426	ECHP_HUMAN	N	574;478	ENSP00000231887:K574N;ENSP00000387746:K478N	ENSP00000231887:K574N	K	-	3	2	EHHADH	186393158	0.999000	0.42202	0.999000	0.59377	0.998000	0.95712	1.099000	0.31013	1.510000	0.48803	0.655000	0.94253	AAG	.		0.463	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1		
CEP19	84984	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	196434499	196434499	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:196434499C>A	ENST00000399942.4	-	2	604	c.310G>T	c.(310-312)Gac>Tac	p.D104Y	CEP19_ENST00000409690.3_Missense_Mutation_p.D143Y|RNU6-646P_ENST00000364571.1_RNA			Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	139						centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						ACCTCAATGTCATAAACAAAA	0.403																																					p.D143Y		.											.	CEP19-69	0			c.G427T						.						150.0	139.0	142.0					3																	196434499		1919	4134	6053	SO:0001583	missense	84984	exon3			CAATGTCATAAAC	BC007827	CCDS43193.2	3q29	2014-02-20	2011-05-06	2011-05-06	ENSG00000174007	ENSG00000174007			28209	protein-coding gene	gene with protein product		615586	"""chromosome 3 open reading frame 34"""	C3orf34		21399614	Standard	XM_005269370		Approved	MGC14126	uc011btw.2	Q96LK0	OTTHUMG00000153933	ENST00000399942.4:c.310G>T	3.37:g.196434499C>A	ENSP00000382823:p.Asp104Tyr	83	0		47	17	NM_032898	0	0	3	5	2	B2RA74|Q96I48	Missense_Mutation	SNP	ENST00000399942.4	37		.	.	.	.	.	.	.	.	.	.	C	18.11	3.551413	0.65311	.	.	ENSG00000174007	ENST00000409690;ENST00000399942	.	.	.	5.66	4.77	0.60923	.	0.084004	0.85682	D	0.000000	T	0.77955	0.4208	M	0.80616	2.505	0.58432	D	0.999998	D	0.76494	0.999	D	0.66497	0.944	T	0.80553	-0.1331	9	0.87932	D	0	-18.5034	13.9478	0.64096	0.0:0.8771:0.0:0.1229	.	139	Q96LK0	CEP19_HUMAN	Y	143;104	.	ENSP00000382823:D104Y	D	-	1	0	CEP19	197918896	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	2.229000	0.42990	2.832000	0.97577	0.655000	0.94253	GAC	.		0.403	CEP19-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333081.1	NM_032898	
GAK	2580	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	882712	882712	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:882712G>T	ENST00000314167.4	-	11	1238	c.1128C>A	c.(1126-1128)gaC>gaA	p.D376E	GAK_ENST00000511163.1_Missense_Mutation_p.D297E	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	376					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CCCGCAGAATGTCCAGGAAGC	0.647																																					p.D376E		.											.	GAK-568	0			c.C1128A						.						67.0	56.0	60.0					4																	882712		2198	4297	6495	SO:0001583	missense	2580	exon11			CAGAATGTCCAGG	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1128C>A	4.37:g.882712G>T	ENSP00000314499:p.Asp376Glu	86	1		116	35	NM_005255	0	0	23	30	7	Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.612131	0.46631	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.79247	-0.83;-1.25	4.55	2.78	0.32641	.	0.103079	0.64402	D	0.000004	T	0.79088	0.4387	L	0.60455	1.87	0.51012	D	0.999901	P;P;P;P	0.51147	0.942;0.765;0.719;0.719	P;B;P;P	0.54924	0.764;0.404;0.573;0.474	T	0.76323	-0.3001	10	0.66056	D	0.02	-39.9077	6.4476	0.21885	0.2345:0.0:0.7655:0.0	.	297;297;376;272	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	E	376;297	ENSP00000314499:D376E;ENSP00000421361:D297E	ENSP00000314499:D376E	D	-	3	2	GAK	872712	1.000000	0.71417	0.828000	0.32881	0.240000	0.25518	0.991000	0.29654	0.341000	0.23771	0.561000	0.74099	GAC	.		0.647	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255	
TMEM175	84286	broad.mit.edu;ucsc.edu	37	4	947039	947039	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:947039C>A	ENST00000264771.4	+	8	709	c.524C>A	c.(523-525)tCt>tAt	p.S175Y	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Missense_Mutation_p.S93Y|TMEM175_ENST00000515740.1_Missense_Mutation_p.S59Y	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	175						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ATCCAGCGCTCTGCCCACAGG	0.622																																					p.S175Y		.											.	TMEM175-90	0			c.C524A						.						117.0	96.0	103.0					4																	947039		2203	4300	6503	SO:0001583	missense	84286	exon8			AGCGCTCTGCCCA	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.524C>A	4.37:g.947039C>A	ENSP00000264771:p.Ser175Tyr	84	1		105	16	NM_032326	0	0	92	98	6	D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	c	13.25	2.180184	0.38511	.	.	ENSG00000127419	ENST00000264771;ENST00000514453;ENST00000515492;ENST00000359768;ENST00000509508;ENST00000515740;ENST00000508204;ENST00000510493	T;T;T;T	0.51325	1.32;0.77;1.19;0.71	4.71	3.86	0.44501	.	0.329659	0.29119	N	0.013097	T	0.52306	0.1726	L	0.54323	1.7	0.30719	N	0.748427	P;P;D	0.57899	0.729;0.916;0.981	B;P;P	0.52424	0.276;0.627;0.698	T	0.58340	-0.7653	10	0.56958	D	0.05	-27.1319	10.911	0.47108	0.0:0.809:0.191:0.0	.	93;175;93	D6RBE5;Q9BSA9;B3KR27	.;TM175_HUMAN;.	Y	175;162;93;93;81;59;93;93	ENSP00000264771:S175Y;ENSP00000425181:S162Y;ENSP00000427039:S59Y;ENSP00000423669:S93Y	ENSP00000264771:S175Y	S	+	2	0	TMEM175	937039	0.707000	0.27866	0.003000	0.11579	0.001000	0.01503	3.596000	0.54024	0.961000	0.38030	0.567000	0.79289	TCT	.		0.622	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388755	1388755	+	Silent	SNP	C	C	G	rs373946226	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:1388755C>G	ENST00000324803.4	+	1	3416	c.456C>G	c.(454-456)ccC>ccG	p.P152P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	152					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACGTGCCCATGCGGAGTG	0.697													N|||	566	0.113019	0.0772	0.1657	5008	,	,		16075	0.0139		0.1441	False		,,,				2504	0.1943				p.P152P		.											.	CRIPAK-90	0			c.C456G						.						75.0	67.0	69.0					4																	1388755		2201	4282	6483	SO:0001819	synonymous_variant	285464	exon1			CGTGCCCATGCGG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.456C>G	4.37:g.1388755C>G		8	0		113	15	NM_175918	0	0	18	55	37	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	3.606	-0.080629	0.07141	.	.	ENSG00000179979	ENST00000382944	.	.	.	0.948	-1.9	0.07665	.	.	.	.	.	T	0.13713	0.0332	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26643	-1.0097	5	0.12430	T	0.62	.	2.6602	0.05024	0.0:0.3324:0.2607:0.407	.	.	.	.	D	136	.	ENSP00000372402:H136D	H	+	1	0	CRIPAK	1378755	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-4.277000	0.00261	-0.599000	0.05798	-1.737000	0.00689	CAT	C|0.960;G|0.040		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
TACC3	10460	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	1742615	1742615	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:1742615G>T	ENST00000313288.4	+	13	2231	c.2125G>T	c.(2125-2127)Gac>Tac	p.D709Y		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	709					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AAAAGAAAAAGACCAACTTAC	0.443																																					p.D709Y	Ovarian(120;482 2294 11894 35824)	.											.	TACC3-91	0			c.G2125T						.						85.0	85.0	85.0					4																	1742615		2203	4300	6503	SO:0001583	missense	10460	exon13			GAAAAAGACCAAC	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.2125G>T	4.37:g.1742615G>T	ENSP00000326550:p.Asp709Tyr	88	1		126	20	NM_006342	0	0	82	90	8	Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453180	0.63290	.	.	ENSG00000013810	ENST00000313288	T	0.51071	0.72	4.99	3.19	0.36642	.	1.032320	0.07744	N	0.947434	T	0.66436	0.2789	M	0.81497	2.545	0.26648	N	0.972168	D;D	0.61080	0.989;0.963	D;P	0.63113	0.911;0.771	T	0.50056	-0.8872	10	0.66056	D	0.02	-8.3295	7.5032	0.27530	0.101:0.3511:0.5479:0.0	.	709;709	Q2NKK4;Q9Y6A5	.;TACC3_HUMAN	Y	709	ENSP00000326550:D709Y	ENSP00000326550:D709Y	D	+	1	0	TACC3	1712413	0.981000	0.34729	0.003000	0.11579	0.801000	0.45260	2.917000	0.48821	1.340000	0.45581	0.650000	0.86243	GAC	.		0.443	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2		
OTOP1	133060	hgsc.bcm.edu	37	4	4228456	4228456	+	Silent	SNP	G	G	T	rs73191872		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:4228456G>T	ENST00000296358.4	-	1	160	c.136C>A	c.(136-138)Cgg>Agg	p.R46R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	46					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACAccgccccgccggggggcc	0.736																																					p.R46R		.											.	OTOP1-92	0			c.C136A						.						4.0	4.0	4.0					4																	4228456		1989	3880	5869	SO:0001819	synonymous_variant	133060	exon1			CGCCCCGCCGGGG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.136C>A	4.37:g.4228456G>T		9	0		53	20	NM_177998	0	0	0	0	0	A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.736	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	
OTOP1	133060	hgsc.bcm.edu	37	4	4228472	4228472	+	Silent	SNP	T	T	C	rs76810534		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:4228472T>C	ENST00000296358.4	-	1	144	c.120A>G	c.(118-120)gaA>gaG	p.E40E		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	40				E -> K (in Ref. 1; AAI30431/AAI30433). {ECO:0000305}.	biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		gggccggggATTCCGGGGACC	0.756																																					p.E40E		.											.	OTOP1-92	0			c.A120G						.						3.0	4.0	4.0					4																	4228472		1916	3754	5670	SO:0001819	synonymous_variant	133060	exon1			CGGGGATTCCGGG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.120A>G	4.37:g.4228472T>C		5	0		39	13	NM_177998	0	0	0	0	0	A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.756	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	
HTRA3	94031	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	8293280	8293280	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:8293280G>T	ENST00000307358.2	+	4	1096	c.892G>T	c.(892-894)Gcc>Tcc	p.A298S	HTRA3_ENST00000382512.3_Missense_Mutation_p.A298S	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	298	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						CCAGACGGATGCCATCATCAA	0.637																																					p.A298S		.											.	HTRA3-91	0			c.G892T						.						29.0	25.0	27.0					4																	8293280		2201	4299	6500	SO:0001583	missense	94031	exon4			ACGGATGCCATCA	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.892G>T	4.37:g.8293280G>T	ENSP00000303766:p.Ala298Ser	110	1		133	17	NM_053044	0	0	0	0	0	Q7Z7A2	Missense_Mutation	SNP	ENST00000307358.2	37	CCDS3400.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.290876	0.80914	.	.	ENSG00000170801	ENST00000307358;ENST00000382512	D;D	0.90732	-2.72;-2.72	4.1	4.1	0.47936	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.127228	0.52532	D	0.000065	D	0.96030	0.8707	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	D	0.97193	0.9859	10	0.87932	D	0	-31.0093	16.3177	0.82934	0.0:0.0:1.0:0.0	.	298;298	P83110;P83110-2	HTRA3_HUMAN;.	S	298	ENSP00000303766:A298S;ENSP00000371952:A298S	ENSP00000303766:A298S	A	+	1	0	HTRA3	8344180	1.000000	0.71417	0.983000	0.44433	0.637000	0.38172	9.110000	0.94302	1.842000	0.53543	0.461000	0.40582	GCC	.		0.637	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044	
DEFB131	644414	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	9452101	9452101	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:9452101C>A	ENST00000334879.1	+	2	74	c.74C>A	c.(73-75)tCt>tAt	p.S25Y		NM_001040448.2|NM_001242853.1	NP_001035538.2|NP_001229782.1	P59861	DB131_HUMAN	defensin, beta 131	25					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				lung(2)	2						AGCTTCATTTCTAATGATGAA	0.299																																					p.S25Y		.											.	DEFB131-68	0			c.C74A						.						35.0	29.0	31.0					4																	9452101		1811	4067	5878	SO:0001583	missense	644414	exon2			TCATTTCTAATGA	AF529414	CCDS43213.1	4p16.1	2010-03-30			ENSG00000186146	ENSG00000186146		"""Defensins, beta"""	18108	protein-coding gene	gene with protein product						11854508, 16033865, 12600824	Standard	NM_001040448		Approved	DEFB-31	uc011bwt.2	P59861	OTTHUMG00000160187	ENST00000334879.1:c.74C>A	4.37:g.9452101C>A	ENSP00000335538:p.Ser25Tyr	252	0		224	40	NM_001040448	0	0	0	0	0		Missense_Mutation	SNP	ENST00000334879.1	37	CCDS43213.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-4.206962	0.00001	.	.	ENSG00000186146	ENST00000334879	.	.	.	0.42	-0.841	0.10752	.	.	.	.	.	T	0.09158	0.0226	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28202	-1.0051	7	0.02654	T	1	.	0.1336	0.00076	0.2473:0.2539:0.2465:0.2522	.	25	P59861	DB131_HUMAN	Y	25	.	ENSP00000335538:S25Y	S	+	2	0	DEFB131	9061199	0.000000	0.05858	0.020000	0.16555	0.069000	0.16628	-2.363000	0.01081	-2.178000	0.00768	-1.604000	0.00809	TCT	.		0.299	DEFB131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359607.1	NM_001040448	
FAM184B	27146	broad.mit.edu	37	4	17706724	17706724	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:17706724C>A	ENST00000265018.3	-	5	1488	c.1276G>T	c.(1276-1278)Gac>Tac	p.D426Y		NM_015688.1	NP_056503.1	Q9ULE4	F184B_HUMAN	family with sequence similarity 184, member B	426										NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						ACTAGCTGGTCTTTGAGATGT	0.433																																					p.D426Y		.											.	FAM184B-23	0			c.G1276T						.						325.0	279.0	293.0					4																	17706724		692	1591	2283	SO:0001583	missense	27146	exon5			GCTGGTCTTTGAG		CCDS47033.1	4p16	2009-04-22			ENSG00000047662	ENSG00000047662			29235	protein-coding gene	gene with protein product						10574462	Standard	NM_015688		Approved	KIAA1276	uc003gpm.4	Q9ULE4	OTTHUMG00000160287	ENST00000265018.3:c.1276G>T	4.37:g.17706724C>A	ENSP00000265018:p.Asp426Tyr	120	0		150	6	NM_015688	0	0	0	0	0		Missense_Mutation	SNP	ENST00000265018.3	37	CCDS47033.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280561	0.59758	.	.	ENSG00000047662	ENST00000265018	T	0.00354	7.93	5.21	4.37	0.52481	.	0.274128	0.39985	N	0.001218	T	0.00552	0.0018	L	0.44542	1.39	0.34930	D	0.749272	D	0.64830	0.994	D	0.69479	0.964	T	0.77970	-0.2387	10	0.87932	D	0	-15.8607	14.1615	0.65450	0.0:0.9271:0.0:0.0729	.	426	Q9ULE4	F184B_HUMAN	Y	426	ENSP00000265018:D426Y	ENSP00000265018:D426Y	D	-	1	0	FAM184B	17315822	0.997000	0.39634	0.982000	0.44146	0.656000	0.38851	3.794000	0.55492	1.324000	0.45282	0.563000	0.77884	GAC	.		0.433	FAM184B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360137.1	NM_015688	
ZCCHC4	29063	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	25351214	25351214	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:25351214C>A	ENST00000302874.4	+	7	884	c.860C>A	c.(859-861)gCt>gAt	p.A287D	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	287							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GAACCTCTGGCTATTACATTC	0.378																																					p.A287D		.											.	ZCCHC4-70	0			c.C860A						.						173.0	167.0	169.0					4																	25351214		1865	4092	5957	SO:0001583	missense	29063	exon7			CTCTGGCTATTAC	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.860C>A	4.37:g.25351214C>A	ENSP00000303468:p.Ala287Asp	154	1		156	57	NM_024936	0	0	1	1	0	B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422514	0.83559	.	.	ENSG00000168228	ENST00000302874	T	0.44083	0.93	5.4	5.4	0.78164	.	0.048914	0.85682	D	0.000000	T	0.66906	0.2837	M	0.80183	2.485	0.47094	D	0.999316	D	0.89917	1.0	D	0.81914	0.995	T	0.71461	-0.4586	10	0.87932	D	0	-12.0334	16.0972	0.81135	0.0:1.0:0.0:0.0	.	287	Q9H5U6	ZCHC4_HUMAN	D	287	ENSP00000303468:A287D	ENSP00000303468:A287D	A	+	2	0	ZCCHC4	24960312	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.641000	0.67881	2.520000	0.84964	0.655000	0.94253	GCT	.		0.378	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1		
TBC1D1	23216	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	37903767	37903767	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:37903767C>A	ENST00000261439.4	+	2	406	c.51C>A	c.(49-51)gtC>gtA	p.V17V	TBC1D1_ENST00000508802.1_Silent_p.V17V|TBC1D1_ENST00000402522.1_Silent_p.V17V	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	17					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTAACGAGGTCTCGGTGGATT	0.522																																					p.V17V		.											.	TBC1D1-91	0			c.C51A						.						106.0	97.0	100.0					4																	37903767		2203	4300	6503	SO:0001819	synonymous_variant	23216	exon2			CGAGGTCTCGGTG	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.51C>A	4.37:g.37903767C>A		111	0		177	47	NM_015173	0	0	0	0	0	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	CCDS33972.1																																																																																			.		0.522	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173	
WDR19	57728	bcgsc.ca	37	4	39188188	39188188	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:39188188G>T	ENST00000399820.3	+	3	282	c.128G>T	c.(127-129)cGc>cTc	p.R43L	WDR19_ENST00000288634.7_5'UTR|WDR19_ENST00000506503.1_Missense_Mutation_p.R43L	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	43					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						ATCTTTGATCGCCATGGTCAA	0.269																																					p.R43L		.											.	WDR19-67	0			c.G128T						.						35.0	34.0	34.0					4																	39188188		1796	4061	5857	SO:0001583	missense	57728	exon3			TTGATCGCCATGG	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.128G>T	4.37:g.39188188G>T	ENSP00000382717:p.Arg43Leu	121	3		181	57	NM_025132	0	0	1	1	0	B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965625	0.92855	.	.	ENSG00000157796	ENST00000399820;ENST00000506503;ENST00000399836	T;T	0.55234	0.53;0.53	5.69	5.69	0.88448	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78805	0.4341	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.984;0.998	T	0.82392	-0.0480	10	0.66056	D	0.02	-13.7685	18.3637	0.90384	0.0:0.0:1.0:0.0	.	43;43	Q8NEZ3;D6R9P6	WDR19_HUMAN;.	L	43;43;42	ENSP00000382717:R43L;ENSP00000423491:R43L	ENSP00000382717:R43L	R	+	2	0	WDR19	38864583	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.367000	0.73099	2.691000	0.91804	0.561000	0.74099	CGC	.		0.269	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1		
RBM47	54502	hgsc.bcm.edu	37	4	40440854	40440854	+	Silent	SNP	G	G	C	rs1052153	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:40440854G>C	ENST00000381793.2	-	3	453	c.57C>G	c.(55-57)tcC>tcG	p.S19S	RBM47_ENST00000319592.4_Silent_p.S19S|RBM47_ENST00000514014.1_Intron|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.S19S|RBM47_ENST00000295971.7_Silent_p.S19S			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	19					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GCACCTTGGCGGAGGACCCGG	0.662													C|||	4016	0.801917	0.6808	0.8588	5008	,	,		14653	0.7679		0.8837	False		,,,				2504	0.8763				p.S19S		.											.	RBM47-25	0			c.C57G						.	C	,	3111,1133		1151,809,162	8.0	9.0	9.0		57,57	-7.6	0.0	4	dbSNP_86	9	7487,919		3358,771,74	no	coding-synonymous,coding-synonymous	RBM47	NM_001098634.1,NM_019027.3	,	4509,1580,236	CC,CG,GG		10.9327,26.6965,16.2213	,	19/594,19/525	40440854	10598,2052	2122	4203	6325	SO:0001819	synonymous_variant	54502	exon4			CTTGGCGGAGGAC	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.57C>G	4.37:g.40440854G>C		0	0		9	8	NM_001098634	0	0	0	4	4	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	CCDS43223.1																																																																																			G|0.794;C|0.206		0.662	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027	
CORIN	10699	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	47746504	47746504	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:47746504G>T	ENST00000273857.4	-	5	713	c.714C>A	c.(712-714)ctC>ctA	p.L238L	CORIN_ENST00000504584.1_Silent_p.L238L|CORIN_ENST00000505909.1_Silent_p.L238L|CORIN_ENST00000508498.1_Silent_p.L99L|CORIN_ENST00000502252.1_Silent_p.L171L	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	238	FZ 1. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GGGAGCATCTGAGGAAATCCG	0.483																																					p.L238L		.											.	CORIN-91	0			c.C714A						.						174.0	181.0	179.0					4																	47746504		2203	4300	6503	SO:0001819	synonymous_variant	10699	exon5			GCATCTGAGGAAA	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.714C>A	4.37:g.47746504G>T		85	0		117	12	NM_006587	0	0	0	0	0	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	CCDS3477.1																																																																																			.		0.483	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		
ZAR1	326340	hgsc.bcm.edu	37	4	48492434	48492434	+	Missense_Mutation	SNP	G	G	C	rs10008444	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:48492434G>C	ENST00000327939.4	+	1	166	c.126G>C	c.(124-126)caG>caC	p.Q42H		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	42					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						GCTGGCAGCAGCGCGGCAGGG	0.756													C|||	4938	0.986022	0.9493	0.9957	5008	,	,		9261	1.0		1.0	False		,,,				2504	1.0				p.Q42H		.											.	ZAR1-90	0			c.G126C						.	C	HIS/GLN	2851,89		1381,89,0	2.0	3.0	3.0		126	-0.2	0.0	4	dbSNP_119	3	6474,0		3237,0,0	no	missense	ZAR1	NM_175619.1	24	4618,89,0	CC,CG,GG		0.0,3.0272,0.9454	benign	42/425	48492434	9325,89	1470	3237	4707	SO:0001583	missense	326340	exon1			GCAGCAGCGCGGC	AY193890	CCDS3483.1	4p11	2014-02-20			ENSG00000182223	ENSG00000182223			20436	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 6"""	607520				12539046	Standard	NM_175619		Approved	Z3CXXC6	uc003gyd.3	Q86SH2	OTTHUMG00000102093	ENST00000327939.4:c.126G>C	4.37:g.48492434G>C	ENSP00000329803:p.Gln42His	0	0		9	9	NM_175619	0	0	0	0	0		Missense_Mutation	SNP	ENST00000327939.4	37	CCDS3483.1	2130	0.9752747252747253	449	0.9126016260162602	359	0.9917127071823204	565	0.9877622377622378	757	0.9986807387862797	C	0.021	-1.426522	0.01117	0.969728	1.0	ENSG00000182223	ENST00000327939	.	.	.	4.09	-0.185	0.13276	.	0.811302	0.10779	N	0.635071	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.22103	-1.0226	8	0.14252	T	0.57	-31.571	6.2995	0.21105	0.0:0.2927:0.4307:0.2766	rs10008444;rs58304706	42	Q86SH2	ZAR1_HUMAN	H	42	.	ENSP00000329803:Q42H	Q	+	3	2	ZAR1	48187191	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.053000	0.14184	-0.405000	0.07599	-0.676000	0.03789	CAG	G|0.025;C|0.975		0.756	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3		
SCFD2	152579	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	54011642	54011642	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:54011642G>T	ENST00000401642.3	-	5	1552	c.1419C>A	c.(1417-1419)atC>atA	p.I473I	SCFD2_ENST00000388940.4_Silent_p.I473I	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	473					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ATATGAGAAGGATCAGCAGTT	0.463																																					p.I473I		.											.	SCFD2-93	0			c.C1419A						.						125.0	126.0	126.0					4																	54011642		2203	4300	6503	SO:0001819	synonymous_variant	152579	exon5			GAGAAGGATCAGC	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1419C>A	4.37:g.54011642G>T		106	1		127	22	NM_152540	0	0	21	23	2	Q8N5F3|Q8N8H0|Q96ED3	Silent	SNP	ENST00000401642.3	37	CCDS33984.1																																																																																			.		0.463	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540	
SRP72	6731	ucsc.edu;bcgsc.ca	37	4	57352563	57352563	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:57352563G>T	ENST00000342756.5	+	11	1880	c.1159G>T	c.(1159-1161)Ggt>Tgt	p.G387C	SRP72_ENST00000510663.1_Splice_Site_p.G326C	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	387					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					AATTTCTCAAGGTATTATGGT	0.289																																					p.G387C		.											.	SRP72-116	0			c.G1159T						.						28.0	28.0	28.0					4																	57352563		2200	4292	6492	SO:0001630	splice_region_variant	6731	exon11			TCTCAAGGTATTA	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1159+1G>T	4.37:g.57352563G>T		167	3		216	46	NM_006947	0	0	0	0	0	G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507418	0.85282	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663;ENST00000505314	T;T	0.52754	0.65;0.65	5.42	5.42	0.78866	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.987	T	0.77490	-0.2568	10	0.87932	D	0	.	16.6962	0.85336	0.0:0.0:1.0:0.0	.	326;387;387	G5E9Z8;Q86X80;O76094	.;.;SRP72_HUMAN	C	387;332;326;148	ENSP00000342181:G387C;ENSP00000424576:G326C	ENSP00000342181:G387C	G	+	1	0	SRP72	57047320	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.259000	0.95561	2.513000	0.84729	0.655000	0.94253	GGT	.		0.289	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7		Missense_Mutation
SLC4A4	8671	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	72363343	72363343	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:72363343C>A	ENST00000264485.5	+	16	2217	c.2100C>A	c.(2098-2100)ttC>ttA	p.F700L	SLC4A4_ENST00000340595.3_Missense_Mutation_p.F656L|SLC4A4_ENST00000425175.1_Missense_Mutation_p.F700L|SLC4A4_ENST00000351898.6_Missense_Mutation_p.F700L	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	700					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TTATCCTCTTCTTGGGAACCT	0.378																																					p.F700L		.											.	SLC4A4-95	0			c.C2100A						.						118.0	123.0	121.0					4																	72363343		2203	4300	6503	SO:0001583	missense	8671	exon16			CCTCTTCTTGGGA	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2100C>A	4.37:g.72363343C>A	ENSP00000264485:p.Phe700Leu	92	0		131	11	NM_001098484	0	0	0	0	0	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236673	0.79800	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.44	2.78	0.32641	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85779	0.5776	M	0.75884	2.315	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.91635	0.999;0.962;0.999;0.999	D	0.85048	0.0927	10	0.87932	D	0	.	10.5838	0.45271	0.0:0.7301:0.0:0.2699	.	700;700;656;700	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	L	700;700;700;656	ENSP00000264485:F700L;ENSP00000393557:F700L;ENSP00000307349:F700L;ENSP00000344272:F656L	ENSP00000264485:F700L	F	+	3	2	SLC4A4	72582207	0.981000	0.34729	0.999000	0.59377	0.990000	0.78478	0.563000	0.23547	0.357000	0.24183	-0.136000	0.14681	TTC	.		0.378	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	
ANKRD17	26057	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	73941997	73941997	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:73941997C>G	ENST00000358602.4	-	34	7879	c.7763G>C	c.(7762-7764)gGa>gCa	p.G2588A	ANKRD17_ENST00000330838.6_Missense_Mutation_p.G2337A|ANKRD17_ENST00000509867.2_Missense_Mutation_p.G2475A	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2588					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCCCAGGGTCCAGTCCACAC	0.368																																					p.G2588A		.											.	ANKRD17-234	0			c.G7763C						.						70.0	63.0	65.0					4																	73941997		2203	4300	6503	SO:0001583	missense	26057	exon34			CAGGGTCCAGTCC	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7763G>C	4.37:g.73941997C>G	ENSP00000351416:p.Gly2588Ala	142	0		200	11	NM_032217	0	0	0	0	0	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644180	0.67244	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867	D;D;D	0.86562	-2.14;-2.12;-2.03	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000016	D	0.92021	0.7472	L	0.52573	1.65	0.53005	D	0.999962	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.998;0.995;0.995	D	0.92667	0.6146	10	0.87932	D	0	.	19.0464	0.93020	0.0:1.0:0.0:0.0	.	2587;2337;2588;2475	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	A	2588;1995;2337;2475	ENSP00000351416:G2588A;ENSP00000332265:G2337A;ENSP00000427151:G2475A	ENSP00000332265:G2337A	G	-	2	0	ANKRD17	74160861	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.294000	0.78760	2.514000	0.84764	0.655000	0.94253	GGA	.		0.368	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
ANKRD17	26057	broad.mit.edu	37	4	74005860	74005860	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:74005860C>A	ENST00000358602.4	-	15	2589	c.2473G>T	c.(2473-2475)Gcc>Tcc	p.A825S	ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A712S|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	825					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTTCTATGGCTTCTTTTATC	0.468																																					p.A825S		.											.	ANKRD17-234	0			c.G2473T						.						165.0	172.0	170.0					4																	74005860		2203	4300	6503	SO:0001583	missense	26057	exon15			CTATGGCTTCTTT	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.2473G>T	4.37:g.74005860C>A	ENSP00000351416:p.Ala825Ser	108	0		112	5	NM_032217	0	0	1	1	0	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741471	0.69304	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000509867;ENST00000411811	T;T	0.69435	1.66;-0.4	5.86	5.86	0.93980	Ankyrin repeat-containing domain (1);	0.000000	0.64402	D	0.000003	T	0.62122	0.2402	L	0.47190	1.495	0.80722	D	1	P;B;B;B	0.43633	0.813;0.234;0.242;0.184	B;B;B;B	0.37731	0.257;0.14;0.058;0.062	T	0.60010	-0.7346	10	0.30078	T	0.28	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	346;825;825;712	B4DR08;O75179-2;O75179;E7EUV3	.;.;ANR17_HUMAN;.	S	825;825;712;825	ENSP00000351416:A825S;ENSP00000427151:A712S	ENSP00000351416:A825S	A	-	1	0	ANKRD17	74224724	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.699000	0.68310	2.937000	0.99478	0.650000	0.86243	GCC	.		0.468	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
CXCL1	2919	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	74735403	74735403	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:74735403G>T	ENST00000395761.3	+	2	185	c.118G>T	c.(118-120)Gaa>Taa	p.E40*	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	40					actin cytoskeleton organization (GO:0030036)|cell chemotaxis (GO:0060326)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|enzyme activator activity (GO:0008047)|receptor binding (GO:0005102)			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CGTGGCCACTGAACTGCGCTG	0.647																																					p.E40X		.											.	CXCL1-204	0			c.G118T						.						75.0	86.0	82.0					4																	74735403		2203	4300	6503	SO:0001587	stop_gained	2919	exon2			GCCACTGAACTGC	J03561	CCDS47074.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163739		"""Endogenous ligands"""	4602	protein-coding gene	gene with protein product		155730	"""GRO1 oncogene (melanoma growth stimulating activity, alpha)"", ""fibroblast secretory protein"""	MGSA, GRO1, FSP		2217207	Standard	NM_001511		Approved	SCYB1, GROa, MGSA-a, NAP-3	uc003hhh.3	P09341		ENST00000395761.3:c.118G>T	4.37:g.74735403G>T	ENSP00000379110:p.Glu40*	164	0		221	71	NM_001511	0	0	0	0	0	Q9UCR7	Nonsense_Mutation	SNP	ENST00000395761.3	37	CCDS47074.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266833	0.80469	.	.	ENSG00000163739	ENST00000395761	.	.	.	5.05	4.21	0.49690	.	0.050988	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.3093	0.37893	0.0998:0.0:0.9002:0.0	.	.	.	.	X	40	.	ENSP00000379110:E40X	E	+	1	0	CXCL1	74954267	1.000000	0.71417	0.013000	0.15412	0.008000	0.06430	5.846000	0.69444	1.123000	0.41961	0.563000	0.77884	GAA	.		0.647	CXCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362734.1		
PARM1	25849	broad.mit.edu;bcgsc.ca	37	4	75938041	75938041	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:75938041C>A	ENST00000307428.7	+	2	662	c.450C>A	c.(448-450)tcC>tcA	p.S150S	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	150					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CACTCATCTCCCCTCAAGCTC	0.567																																					p.S150S		.											.	PARM1-1	0			c.C450A						.						198.0	214.0	208.0					4																	75938041		2154	4249	6403	SO:0001819	synonymous_variant	25849	exon2			CATCTCCCCTCAA	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.450C>A	4.37:g.75938041C>A		171	1		212	12	NM_015393	0	0	3	3	0	B3KMQ9|Q96DV8|Q9Y4S1	Silent	SNP	ENST00000307428.7	37	CCDS47077.1																																																																																			.		0.567	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393	
CDKL2	8999	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	76522169	76522169	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:76522169G>T	ENST00000429927.2	-	9	1975	c.1272C>A	c.(1270-1272)ccC>ccA	p.P424P	CDKL2_ENST00000307465.4_Silent_p.P424P	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	424					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AATTAATGCTGGGAGCAACTG	0.423																																					p.P424P		.											.	CDKL2-454	0			c.C1272A						.						169.0	158.0	162.0					4																	76522169		2203	4300	6503	SO:0001819	synonymous_variant	8999	exon9			AATGCTGGGAGCA	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.1272C>A	4.37:g.76522169G>T		183	2		222	58	NM_003948	0	0	0	0	0	B2R695	Silent	SNP	ENST00000429927.2	37	CCDS3570.1																																																																																			.		0.423	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948	
COQ2	27235	broad.mit.edu	37	4	84205941	84205941	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:84205941C>T	ENST00000311469.4	-	1	126	c.127G>A	c.(127-129)Gct>Act	p.A43T	COQ2_ENST00000311461.7_5'Flank|COQ2_ENST00000439031.2_Missense_Mutation_p.A6T	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase	0					cell death (GO:0008219)|glycerol metabolic process (GO:0006071)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	4-hydroxybenzoate decaprenyltransferase activity (GO:0002083)|4-hydroxybenzoate nonaprenyltransferase activity (GO:0047293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				CCGGGACGAGCTCGGATTGAC	0.721																																					p.A43T		.											.	COQ2-92	0			c.G127A						.						8.0	9.0	9.0					4																	84205941		1880	4004	5884	SO:0001583	missense	27235	exon1			GACGAGCTCGGAT		CCDS47090.1, CCDS47090.2	4q21.23	2013-05-23	2013-05-23				2.5.1.39		25223	protein-coding gene	gene with protein product	"""4-hydroxybenzoate polyprenyltransferase"""	609825	"""coenzyme Q2 homolog, prenyltransferase (yeast)"""			15153069, 17332895	Standard	NM_015697		Approved	CL640, FLJ26072	uc003hog.3	Q96H96		ENST00000311469.4:c.127G>A	4.37:g.84205941C>T	ENSP00000310873:p.Ala43Thr	10	0		9	5	NM_015697	0	0	0	0	0	O95331|Q1JQ78|Q684R2	Missense_Mutation	SNP	ENST00000311469.4	37	CCDS47090.2	.	.	.	.	.	.	.	.	.	.	C	16.45	3.128028	0.56721	.	.	ENSG00000173085	ENST00000311469;ENST00000439031	T;T	0.80653	-1.4;-1.16	3.17	-6.33	0.01988	.	.	.	.	.	T	0.68220	0.2977	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.58769	-0.7578	6	0.45353	T	0.12	-3.5536	3.2584	0.06840	0.3184:0.1723:0.4137:0.0957	.	.	.	.	T	43;6	ENSP00000310873:A43T;ENSP00000409275:A6T	ENSP00000310873:A43T	A	-	1	0	COQ2	84424965	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.318000	0.08050	-2.617000	0.00442	0.491000	0.48974	GCT	.		0.721	COQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363027.3	NM_015697	
DAPP1	27071	bcgsc.ca	37	4	100738081	100738081	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:100738081C>A	ENST00000512369.1	+	1	79	c.11C>A	c.(10-12)gCa>gAa	p.A4E	DAPP1_ENST00000296414.7_Missense_Mutation_p.A4E	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	4					protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		ATGGGCAGAGCAGAACTTCTA	0.572																																					p.A4E		.											.	DAPP1-93	0			c.C11A						.						44.0	47.0	46.0					4																	100738081		1990	4166	6156	SO:0001583	missense	27071	exon1			GCAGAGCAGAACT	AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.11C>A	4.37:g.100738081C>A	ENSP00000423602:p.Ala4Glu	103	2		128	16	NM_014395	0	0	0	0	0	Q8TCK5|Q9UHF2	Missense_Mutation	SNP	ENST00000512369.1	37	CCDS47112.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388202	0.61956	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	T;T	0.72725	-0.68;-0.62	4.88	4.03	0.46877	.	0.101205	0.41194	D	0.000922	T	0.57975	0.2090	N	0.14661	0.345	0.33627	D	0.605494	P;P;P	0.52316	0.952;0.852;0.769	P;B;B	0.49140	0.601;0.386;0.215	T	0.68652	-0.5352	10	0.62326	D	0.03	-3.599	8.402	0.32592	0.0:0.897:0.0:0.103	.	4;4;4	B4DW38;Q9UN19-2;Q9UN19	.;.;DAPP1_HUMAN	E	4	ENSP00000296414:A4E;ENSP00000423602:A4E	ENSP00000296414:A4E	A	+	2	0	DAPP1	100957104	0.996000	0.38824	0.990000	0.47175	0.998000	0.95712	1.586000	0.36611	2.688000	0.91661	0.591000	0.81541	GCA	.		0.572	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1		
CENPE	1062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	104082566	104082566	+	Nonsense_Mutation	SNP	C	C	A	rs545723213		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:104082566C>A	ENST00000265148.3	-	19	1980	c.1891G>T	c.(1891-1893)Gaa>Taa	p.E631*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.E606*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	631					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GCTACAGTTTCAGCATCAAAC	0.368																																					p.E631X		.											.	CENPE-277	0			c.G1891T						.						99.0	103.0	101.0					4																	104082566		2203	4300	6503	SO:0001587	stop_gained	1062	exon19			CAGTTTCAGCATC	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1891G>T	4.37:g.104082566C>A	ENSP00000265148:p.Glu631*	125	0		138	15	NM_001813	0	0	2	2	0	A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	38	7.112932	0.98070	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.0148	0.92889	0.0:1.0:0.0:0.0	.	.	.	.	X	631;631;606;631	.	ENSP00000265148:E631X	E	-	1	0	CENPE	104302015	0.916000	0.31088	0.824000	0.32777	0.829000	0.46940	1.702000	0.37836	2.493000	0.84123	0.585000	0.79938	GAA	.		0.368	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
ARHGEF38	54848	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	4	106534599	106534599	+	Nonsense_Mutation	SNP	C	C	A	rs61751053	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:106534599C>A	ENST00000420470.2	+	3	587	c.443C>A	c.(442-444)tCa>tAa	p.S148*	ARHGEF38_ENST00000265154.2_Nonsense_Mutation_p.S148*	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	148	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						CATCAGATATCAGCCAAGCTG	0.433																																					p.S148X		.											.	ARHGEF38-292	0			c.C443A						.						184.0	167.0	173.0					4																	106534599		2203	4300	6503	SO:0001587	stop_gained	54848	exon3			AGATATCAGCCAA	AK000191	CCDS3670.1, CCDS56338.1	4q24	2012-07-24			ENSG00000236699	ENSG00000236699		"""Rho guanine nucleotide exchange factors"""	25968	protein-coding gene	gene with protein product							Standard	NM_001242729		Approved	FLJ20184	uc003hxv.2	Q9NXL2	OTTHUMG00000154752	ENST00000420470.2:c.443C>A	4.37:g.106534599C>A	ENSP00000416125:p.Ser148*	111	0		98	15	NM_001242729	0	0	0	0	0	C9JIB4	Nonsense_Mutation	SNP	ENST00000420470.2	37	CCDS56338.1	.	.	.	.	.	.	.	.	.	.	C	34	5.293694	0.95546	.	.	ENSG00000236699	ENST00000265154;ENST00000420470	.	.	.	5.67	5.67	0.87782	.	0.075350	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0153	19.7657	0.96340	0.0:1.0:0.0:0.0	.	.	.	.	X	148	.	ENSP00000265154:S148X	S	+	2	0	ARHGEF38	106754048	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	5.267000	0.65530	2.649000	0.89929	0.655000	0.94253	TCA	C|0.995;T|0.005		0.433	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000336934.3	NM_017700	
CYP2U1	113612	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	108866353	108866353	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:108866353C>A	ENST00000332884.6	+	2	993	c.718C>A	c.(718-720)Cgc>Agc	p.R240S	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.R31S	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	240					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		CTTTGGCCAGCGCTTTGATTA	0.448																																					p.R240S		.											.	CYP2U1-90	0			c.C718A						.						133.0	129.0	131.0					4																	108866353		2203	4300	6503	SO:0001583	missense	113612	exon2			GGCCAGCGCTTTG	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"""Cytochrome P450s"""	20582	protein-coding gene	gene with protein product	"""spastic paraplegia 49"""	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.718C>A	4.37:g.108866353C>A	ENSP00000333212:p.Arg240Ser	102	1		136	23	NM_183075	0	0	1	1	0	B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622733	0.87460	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.79940	-1.32;-1.32	5.63	5.63	0.86233	.	0.048575	0.85682	D	0.000000	D	0.90793	0.7109	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91596	0.5291	10	0.87932	D	0	.	19.32	0.94234	0.0:1.0:0.0:0.0	.	240	Q7Z449	CP2U1_HUMAN	S	240;197;31	ENSP00000333212:R240S;ENSP00000423667:R31S	ENSP00000333212:R240S	R	+	1	0	CYP2U1	109085802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.570000	0.60872	2.652000	0.90054	0.655000	0.94253	CGC	.		0.448	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075	
HADH	3033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	108944697	108944697	+	Missense_Mutation	SNP	G	G	T	rs144699575	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:108944697G>T	ENST00000309522.3	+	5	763	c.614G>T	c.(613-615)gGa>gTa	p.G205V	HADH_ENST00000454409.2_Missense_Mutation_p.G209V|HADH_ENST00000403312.1_Missense_Mutation_p.G264V|HADH_ENST00000603302.1_Missense_Mutation_p.G205V|HADH_ENST00000505878.1_Missense_Mutation_p.G209V	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	533					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		AAAGCCCTAGGAAAGCATCCT	0.428																																					p.G205V		.											.	HADH-91	0			c.G614T						.						106.0	103.0	104.0					4																	108944697		2203	4300	6503	SO:0001583	missense	3033	exon5			CCCTAGGAAAGCA	X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.614G>T	4.37:g.108944697G>T	ENSP00000312288:p.Gly205Val	108	0		131	17	NM_005327	0	0	74	86	12	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000309522.3	37	CCDS3678.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794309	0.90453	.	.	ENSG00000138796	ENST00000403312;ENST00000309522;ENST00000505878;ENST00000454409	D;D;D	0.82344	-1.6;-1.6;-1.6	5.85	5.85	0.93711	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95484	0.8533	H	0.98883	4.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.987;0.996;0.994	D	0.96865	0.9635	10	0.87932	D	0	-19.7449	20.1577	0.98120	0.0:0.0:1.0:0.0	.	264;209;205	Q16836-2;E9PF18;Q16836	.;.;HCDH_HUMAN	V	205;205;209;209	ENSP00000312288:G205V;ENSP00000425952:G209V;ENSP00000395167:G209V	ENSP00000312288:G205V	G	+	2	0	HADH	109164146	1.000000	0.71417	0.884000	0.34674	0.865000	0.49528	9.694000	0.98686	2.767000	0.95098	0.655000	0.94253	GGA	G|0.999;C|0.001		0.428	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2	NM_005327	
ENPEP	2028	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	111441505	111441505	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:111441505G>T	ENST00000265162.5	+	10	2052	c.1710G>T	c.(1708-1710)caG>caT	p.Q570H	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	570					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		ACCCTTCTCAGCCCCCTTCAG	0.413																																					p.Q570H		.											.	ENPEP-157	0			c.G1710T						.						106.0	95.0	99.0					4																	111441505		2203	4300	6503	SO:0001583	missense	2028	exon10			TTCTCAGCCCCCT	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1710G>T	4.37:g.111441505G>T	ENSP00000265162:p.Gln570His	141	0		165	14	NM_001977	0	0	3	3	0	Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817654	0.32145	.	.	ENSG00000138792	ENST00000265162	T	0.01379	4.96	5.93	3.28	0.37604	.	0.675639	0.15533	N	0.257369	T	0.01421	0.0046	L	0.39020	1.185	0.41441	D	0.987928	B	0.12013	0.005	B	0.08055	0.003	T	0.54344	-0.8308	10	0.26408	T	0.33	.	6.7931	0.23711	0.2073:0.0:0.6668:0.1259	.	570	Q07075	AMPE_HUMAN	H	570	ENSP00000265162:Q570H	ENSP00000265162:Q570H	Q	+	3	2	ENPEP	111660954	1.000000	0.71417	0.938000	0.37757	0.865000	0.49528	2.253000	0.43205	0.838000	0.34948	0.650000	0.86243	CAG	.		0.413	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2		
ANK2	287	broad.mit.edu;bcgsc.ca	37	4	114257869	114257869	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:114257869C>A	ENST00000357077.4	+	31	3781	c.3728C>A	c.(3727-3729)tCa>tAa	p.S1243*	ANK2_ENST00000509550.1_Nonsense_Mutation_p.S419*|ANK2_ENST00000394537.3_Nonsense_Mutation_p.S1243*|ANK2_ENST00000506722.1_Nonsense_Mutation_p.S1234*|ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000264366.6_Nonsense_Mutation_p.S1210*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1243	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCCAAAGCTTCAAGTGATGTC	0.428																																					p.S1243X		.											.	ANK2-583	0			c.C3728A						.						123.0	115.0	117.0					4																	114257869		2203	4300	6503	SO:0001587	stop_gained	287	exon31			AAGCTTCAAGTGA	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3728C>A	4.37:g.114257869C>A	ENSP00000349588:p.Ser1243*	132	0		193	8	NM_001148	0	0	2	2	0	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Nonsense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.137254|9.137254	0.99078|0.99078	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	.|.	.|.	.|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.285387	.|0.24937	.|N	.|0.034415	T|.	0.47544|.	0.1451|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37430|.	-0.9706|.	4|.	.|0.02654	.|T	.|1	.|.	19.387|19.387	0.94560|0.94560	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	255|1156;1234;289;1258;1243;1243;1210;1234;419	.|.	.|ENSP00000264366:S1210X	F|S	+|+	3|2	2|0	ANK2|ANK2	114477318|114477318	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.041000|4.041000	0.57339|0.57339	2.572000|2.572000	0.86782|0.86782	0.655000|0.655000	0.94253|0.94253	TTC|TCA	.		0.428	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
USP53	54532	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	120182880	120182880	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:120182880G>T	ENST00000274030.6	+	12	2012	c.833G>T	c.(832-834)aGa>aTa	p.R278I	USP53_ENST00000450251.1_Missense_Mutation_p.R278I	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						CTTTTTTATAGAGTTACTGAT	0.313																																					p.R278I		.											.	USP53-660	0			c.G833T						.						78.0	72.0	74.0					4																	120182880		1810	4077	5887	SO:0001583	missense	54532	exon11			TTTATAGAGTTAC	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.833G>T	4.37:g.120182880G>T	ENSP00000274030:p.Arg278Ile	92	0		97	19	NM_019050	0	0	0	0	0		Missense_Mutation	SNP	ENST00000274030.6	37	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991698	0.93106	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.04970	3.52;3.52	5.8	5.8	0.92144	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	M	0.77313	2.365	0.80722	D	1	D	0.59357	0.985	D	0.66497	0.944	T	0.00260	-1.1869	10	0.72032	D	0.01	-21.1319	20.0591	0.97667	0.0:0.0:1.0:0.0	.	278	Q70EK8	UBP53_HUMAN	I	278	ENSP00000274030:R278I;ENSP00000409906:R278I	ENSP00000274030:R278I	R	+	2	0	USP53	120402328	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	9.337000	0.96545	2.747000	0.94245	0.462000	0.41574	AGA	.		0.313	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597	
ANXA5	308	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	122607510	122607510	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:122607510C>A	ENST00000296511.5	-	3	312	c.27G>T	c.(25-27)gtG>gtT	p.V9V	ANXA5_ENST00000501272.2_Intron|ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000515017.1_Silent_p.V9V	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	9					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						GGAAGTCAGTCACAGTGCCTC	0.408																																					p.V9V	Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	.											.	ANXA5-91	0			c.G27T						.						97.0	94.0	95.0					4																	122607510		2203	4300	6503	SO:0001819	synonymous_variant	308	exon3			GTCAGTCACAGTG	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"""Annexins"""	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.27G>T	4.37:g.122607510C>A		65	0		68	9	NM_001154	0	0	629	716	87	D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Silent	SNP	ENST00000296511.5	37	CCDS3720.1																																																																																			.		0.408	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154	
FAT4	79633	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	126329878	126329878	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:126329878G>T	ENST00000394329.3	+	4	5862	c.5849G>T	c.(5848-5850)aGc>aTc	p.S1950I	FAT4_ENST00000335110.5_Missense_Mutation_p.S248I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1950	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATTCATACAGCACATCTTTA	0.323																																					p.S1950I		.											.	FAT4-108	0			c.G5849T						.						125.0	130.0	128.0					4																	126329878		2203	4300	6503	SO:0001583	missense	79633	exon4			CATACAGCACATC	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5849G>T	4.37:g.126329878G>T	ENSP00000377862:p.Ser1950Ile	84	0		105	22	NM_024582	0	0	0	0	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060312	0.76074	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.02656	4.21;4.21	5.43	5.43	0.79202	Cadherin (3);Cadherin-like (1);	0.000000	0.40469	U	0.001081	T	0.13543	0.0328	M	0.62154	1.92	0.53688	D	0.999973	P;D	0.63880	0.864;0.993	P;D	0.70487	0.755;0.969	T	0.01205	-1.1419	10	0.36615	T	0.2	.	19.2735	0.94021	0.0:0.0:1.0:0.0	.	248;1950	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	I	1950;248	ENSP00000377862:S1950I;ENSP00000335169:S248I	ENSP00000335169:S248I	S	+	2	0	FAT4	126549328	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.006000	0.70724	2.549000	0.85964	0.655000	0.94253	AGC	.		0.323	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	126329907	126329907	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:126329907G>T	ENST00000394329.3	+	4	5891	c.5878G>T	c.(5878-5880)Gga>Tga	p.G1960*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.G258*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1960	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTACCTGTGGGATCTACTGT	0.284																																					p.G1960X		.											.	FAT4-108	0			c.G5878T						.						128.0	132.0	131.0					4																	126329907		2203	4300	6503	SO:0001587	stop_gained	79633	exon4			CCTGTGGGATCTA	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5878G>T	4.37:g.126329907G>T	ENSP00000377862:p.Gly1960*	76	0		86	33	NM_024582	0	0	0	0	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	47	13.693524	0.99758	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.23	5.23	0.72850	.	0.000000	0.33610	U	0.004730	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8161	0.92077	0.0:0.0:1.0:0.0	.	.	.	.	X	1960;258	.	ENSP00000335169:G258X	G	+	1	0	FAT4	126549357	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	7.443000	0.80521	2.438000	0.82558	0.655000	0.94253	GGA	.		0.284	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu;bcgsc.ca	37	4	126336106	126336106	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:126336106G>T	ENST00000394329.3	+	5	6001	c.5988G>T	c.(5986-5988)aaG>aaT	p.K1996N	FAT4_ENST00000335110.5_Missense_Mutation_p.K294N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1996	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGTTGACAAGAATGGTGTAC	0.408																																					p.K1996N		.											.	FAT4-108	0			c.G5988T						.						120.0	124.0	123.0					4																	126336106		2203	4300	6503	SO:0001583	missense	79633	exon5			TGACAAGAATGGT	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5988G>T	4.37:g.126336106G>T	ENSP00000377862:p.Lys1996Asn	155	1		182	15	NM_024582	0	0	0	0	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	2.407	-0.336333	0.05278	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01745	4.66;4.66	5.23	3.47	0.39725	Cadherin (4);Cadherin-like (1);	0.202899	0.23137	U	0.051520	T	0.00998	0.0033	N	0.05230	-0.09	0.34871	D	0.743571	B;B	0.19817	0.004;0.039	B;B	0.20955	0.012;0.032	T	0.50145	-0.8862	10	0.19590	T	0.45	.	5.3067	0.15807	0.2295:0.3115:0.459:0.0	.	294;1996	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	N	1996;294	ENSP00000377862:K1996N;ENSP00000335169:K294N	ENSP00000335169:K294N	K	+	3	2	FAT4	126555556	0.581000	0.26741	0.009000	0.14445	0.247000	0.25773	0.443000	0.21644	0.572000	0.29383	0.650000	0.86243	AAG	.		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu;bcgsc.ca	37	4	126373173	126373173	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:126373173C>A	ENST00000394329.3	+	9	11015	c.11002C>A	c.(11002-11004)Ctg>Atg	p.L3668M	FAT4_ENST00000335110.5_Missense_Mutation_p.L1966M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3668					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACTTGTGATCTGAATTCCCA	0.493																																					p.L3668M		.											.	FAT4-108	0			c.C11002A						.						123.0	120.0	121.0					4																	126373173		2203	4300	6503	SO:0001583	missense	79633	exon9			TGTGATCTGAATT	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11002C>A	4.37:g.126373173C>A	ENSP00000377862:p.Leu3668Met	106	1		148	16	NM_024582	0	0	1	1	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884603	0.72410	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.26373	1.74;1.74	5.77	5.77	0.91146	.	0.000000	0.28182	U	0.016293	T	0.50531	0.1621	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.50162	-0.8860	10	0.87932	D	0	.	14.1809	0.65574	0.0:0.929:0.0:0.071	.	1966;3668;3668	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	M	3668;1966	ENSP00000377862:L3668M;ENSP00000335169:L1966M	ENSP00000335169:L1966M	L	+	1	2	FAT4	126592623	0.996000	0.38824	0.576000	0.28549	0.945000	0.59286	2.631000	0.46502	2.724000	0.93272	0.561000	0.74099	CTG	.		0.493	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
GYPE	2996	ucsc.edu;bcgsc.ca	37	4	144797985	144797985	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:144797985C>A	ENST00000358615.4	-	3	211	c.160G>T	c.(160-162)Gcg>Tcg	p.A54S	GYPE_ENST00000437468.2_Missense_Mutation_p.A54S	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)	54						integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.A54T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CGAGCCATCGCCCACCAATTA	0.353																																					p.A54S		.											.	.	1	Substitution - Missense(1)	endometrium(1)	c.G160T						.						112.0	107.0	108.0					4																	144797985		1984	4188	6172	SO:0001583	missense	2996	exon3			CCATCGCCCACCA		CCDS47138.1	4q31.21	2010-01-19	2010-01-19		ENSG00000197465	ENSG00000197465		"""Blood group antigens"""	4705	protein-coding gene	gene with protein product		138590	"""glycophorin E"""				Standard	NM_198682		Approved	GPE, MNS	uc003ijj.3	P15421	OTTHUMG00000161402	ENST00000358615.4:c.160G>T	4.37:g.144797985C>A	ENSP00000351430:p.Ala54Ser	340	3		352	67	NM_198682	0	0	0	0	0	D3DNZ5	Missense_Mutation	SNP	ENST00000358615.4	37	CCDS47138.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.248264	0.00271	.	.	ENSG00000197465	ENST00000358615;ENST00000437468	T;T	0.03607	3.87;3.87	.	.	.	.	.	.	.	.	T	0.01730	0.0055	.	.	.	0.09310	N	1	B	0.24483	0.104	B	0.13407	0.009	T	0.49051	-0.8979	6	0.09843	T	0.71	.	.	.	.	.	54	P15421	GLPE_HUMAN	S	54	ENSP00000351430:A54S;ENSP00000400698:A54S	ENSP00000351430:A54S	A	-	1	0	GYPE	145017435	0.148000	0.22702	0.045000	0.18777	0.070000	0.16714	0.055000	0.14229	0.064000	0.16427	0.064000	0.15345	GCG	.		0.353	GYPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364780.1	NM_002102	
HHIP	64399	broad.mit.edu;bcgsc.ca;mdanderson.org	37	4	145628246	145628246	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:145628246C>A	ENST00000296575.3	+	6	1646	c.991C>A	c.(991-993)Cca>Aca	p.P331T		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	331					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TAGAAAAAATCCACACCAAGT	0.383																																					p.P331T		.											.	HHIP-283	0			c.C991A						.						77.0	76.0	76.0					4																	145628246		2203	4300	6503	SO:0001583	missense	64399	exon6			AAAAATCCACACC	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.991C>A	4.37:g.145628246C>A	ENSP00000296575:p.Pro331Thr	64	2		72	27	NM_022475	0	0	0	0	0	Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302785	0.60195	.	.	ENSG00000164161	ENST00000296575	T	0.11385	2.78	5.58	5.58	0.84498	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.25717	0.0626	L	0.60067	1.865	0.80722	D	1	D	0.54397	0.966	P	0.55222	0.771	T	0.00115	-1.2038	10	0.41790	T	0.15	-12.9326	19.5658	0.95391	0.0:1.0:0.0:0.0	.	331	Q96QV1	HHIP_HUMAN	T	331	ENSP00000296575:P331T	ENSP00000296575:P331T	P	+	1	0	HHIP	145847696	1.000000	0.71417	0.987000	0.45799	0.899000	0.52679	5.767000	0.68850	2.606000	0.88127	0.655000	0.94253	CCA	.		0.383	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2		
TTC29	83894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	147830262	147830262	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:147830262G>T	ENST00000325106.4	-	5	542	c.316C>A	c.(316-318)Ctg>Atg	p.L106M	TTC29_ENST00000513335.1_Missense_Mutation_p.L132M|TTC29_ENST00000398886.4_Missense_Mutation_p.L132M	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	106										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GGCTTCTGCAGCCAGAAGAGG	0.572																																					p.L106M		.											.	TTC29-90	0			c.C316A						.						80.0	82.0	81.0					4																	147830262		1927	4128	6055	SO:0001583	missense	83894	exon5			TCTGCAGCCAGAA	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.316C>A	4.37:g.147830262G>T	ENSP00000316740:p.Leu106Met	55	0		53	15	NM_031956	0	0	0	0	0	A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	G	4.449	0.083121	0.08533	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	4.92	-3.87	0.04218	.	1.681460	0.04104	N	0.313517	T	0.17023	0.0409	L	0.56769	1.78	0.09310	N	0.999997	B;B;B	0.30021	0.265;0.034;0.265	B;B;B	0.24394	0.036;0.053;0.036	T	0.13495	-1.0507	10	0.34782	T	0.22	1.3679	2.818	0.05463	0.2098:0.1334:0.5533:0.1034	.	106;132;106	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	M	132;132;106;106;106	ENSP00000423505:L132M;ENSP00000381861:L132M;ENSP00000316740:L106M;ENSP00000425778:L106M	ENSP00000316740:L106M	L	-	1	2	TTC29	148049712	0.010000	0.17322	0.004000	0.12327	0.141000	0.21300	0.041000	0.13927	-1.163000	0.02793	-0.345000	0.07892	CTG	.		0.572	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956	
TENM3	55714	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	183696223	183696223	+	Nonsense_Mutation	SNP	G	G	T	rs373628870		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:183696223G>T	ENST00000511685.1	+	24	5344	c.5221G>T	c.(5221-5223)Gag>Tag	p.E1741*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.E1741*|RP11-18D7.2_ENST00000513255.1_RNA			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1741					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTTGCCTGGCGAGAACGGTCA	0.537																																					p.E1741X		.											.	.	0			c.G5221T						.						80.0	79.0	79.0					4																	183696223		2003	4164	6167	SO:0001587	stop_gained	55714	exon23			CCTGGCGAGAACG	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5221G>T	4.37:g.183696223G>T	ENSP00000424226:p.Glu1741*	204	2		178	71	NM_001080477	0	0	0	0	0	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Nonsense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	45	12.000523	0.99626	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	18.0309	0.89283	0.0:0.0:1.0:0.0	.	.	.	.	X	1741	.	ENSP00000385276:E1741X	E	+	1	0	ODZ3	183933217	1.000000	0.71417	0.990000	0.47175	0.603000	0.37013	9.601000	0.98297	2.546000	0.85860	0.650000	0.86243	GAG	.		0.537	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
PDLIM3	27295	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	186427748	186427748	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:186427748G>T	ENST00000284770.5	-	6	794	c.721C>A	c.(721-723)Cgg>Agg	p.R241R	PDLIM3_ENST00000284771.6_Silent_p.R193R|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	241					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GGCTCATTCCGATTGTCGTGG	0.642																																					p.R241R		.											.	PDLIM3-92	0			c.C721A						.						72.0	64.0	67.0					4																	186427748		2203	4300	6503	SO:0001819	synonymous_variant	27295	exon6			CATTCCGATTGTC	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.721C>A	4.37:g.186427748G>T		47	0		61	13	NM_014476	0	0	7	7	0	B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP	ENST00000284770.5	37	CCDS3844.1																																																																																			.		0.642	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476	
FAT1	2195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	187534440	187534440	+	Missense_Mutation	SNP	G	G	T	rs200812915		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:187534440G>T	ENST00000441802.2	-	13	9495	c.9286C>A	c.(9286-9288)Ctc>Atc	p.L3096I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3096	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCCCTGACGAGAAGATGATAA	0.473										HNSCC(5;0.00058)																											p.L3096I	Colon(197;1040 2055 4143 4984 49344)	.											.	FAT1-34	0			c.C9286A						.						92.0	95.0	94.0					4																	187534440		2033	4167	6200	SO:0001583	missense	2195	exon13			TGACGAGAAGATG	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9286C>A	4.37:g.187534440G>T	ENSP00000406229:p.Leu3096Ile	97	0		109	37	NM_005245	0	0	5	10	5		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	6.132	0.392525	0.11638	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01745	4.66	5.19	1.2	0.21068	Cadherin (4);Cadherin-like (1);	0.554792	0.18007	N	0.154710	T	0.00875	0.0029	N	0.02266	-0.62	0.09310	N	1	B	0.22080	0.064	B	0.30943	0.122	T	0.49532	-0.8930	10	0.18276	T	0.48	.	4.6896	0.12774	0.2275:0.0:0.4211:0.3514	.	3096	Q14517	FAT1_HUMAN	I	3096;3098	ENSP00000406229:L3096I	ENSP00000260147:L3098I	L	-	1	0	FAT1	187771434	0.003000	0.15002	0.003000	0.11579	0.641000	0.38312	0.927000	0.28818	0.337000	0.23665	0.609000	0.83330	CTC	G|0.999;C|0.000		0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
FAT1	2195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	187629193	187629193	+	Missense_Mutation	SNP	C	C	A	rs373653016		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:187629193C>A	ENST00000441802.2	-	2	1998	c.1789G>T	c.(1789-1791)Gat>Tat	p.D597Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	597	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGAAGTTCATCTGCATCAATA	0.408										HNSCC(5;0.00058)																											p.D597Y	Colon(197;1040 2055 4143 4984 49344)	.											.	FAT1-34	0			c.G1789T						.						72.0	66.0	68.0					4																	187629193		1878	4114	5992	SO:0001583	missense	2195	exon2			GTTCATCTGCATC	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1789G>T	4.37:g.187629193C>A	ENSP00000406229:p.Asp597Tyr	42	0		43	27	NM_005245	0	0	0	0	0		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812668	0.70912	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.60171	0.21	5.4	5.4	0.78164	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.84009	0.5378	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88102	0.2820	10	0.72032	D	0.01	.	19.3673	0.94469	0.0:1.0:0.0:0.0	.	597	Q14517	FAT1_HUMAN	Y	597	ENSP00000406229:D597Y	ENSP00000260147:D597Y	D	-	1	0	FAT1	187866187	1.000000	0.71417	0.903000	0.35520	0.739000	0.42172	7.651000	0.83577	2.805000	0.96524	0.655000	0.94253	GAT	.		0.408	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
SLC9A3	6550	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	480044	480044	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:480044G>T	ENST00000264938.3	-	10	1563	c.1554C>A	c.(1552-1554)gtC>gtA	p.V518V	CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.V509V|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	518					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTCTCATGAGGACCCTGCTGA	0.607																																					p.V518V		.											.	SLC9A3-90	0			c.C1554A						.						111.0	111.0	111.0					5																	480044		2203	4300	6503	SO:0001819	synonymous_variant	6550	exon10			CATGAGGACCCTG		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1554C>A	5.37:g.480044G>T		80	0		124	15	NM_004174	0	0	20	25	5	B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	CCDS3855.1																																																																																			.		0.607	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174	
SRD5A1	6715	hgsc.bcm.edu	37	5	6633779	6633779	+	Silent	SNP	C	C	G	rs248793	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:6633779C>G	ENST00000274192.5	+	1	324	c.90C>G	c.(88-90)cgC>cgG	p.R30R	NSUN2_ENST00000539938.1_5'Flank|SRD5A1_ENST00000504286.1_3'UTR|NSUN2_ENST00000264670.6_5'Flank|NSUN2_ENST00000506139.1_5'Flank|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A39G|SRD5A1_ENST00000537411.1_Missense_Mutation_p.A39G	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	30				Missing (in Ref. 4; AAF14869). {ECO:0000305}.	androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TCTTCGCGCGCAATCGTCAGA	0.746													G|||	2833	0.565695	0.6936	0.6816	5008	,	,		9293	0.3899		0.5537	False		,,,				2504	0.5041				p.R30R		.											.	SRD5A1-90	0			c.C90G						.	G		2367,1089		855,657,216	5.0	6.0	5.0		90	0.8	0.0	5	dbSNP_79	5	4176,3144		1277,1622,761	no	coding-synonymous	SRD5A1	NM_001047.2		2132,2279,977	GG,GC,CC		42.9508,31.5104,39.2817		30/260	6633779	6543,4233	1728	3660	5388	SO:0001819	synonymous_variant	6715	exon1			CGCGCGCAATCGT	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.90C>G	5.37:g.6633779C>G		0	0		9	9	NM_001047	0	0	0	2	2	B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Silent	SNP	ENST00000274192.5	37	CCDS3870.1	1204	0.5512820512820513	332	0.6747967479674797	242	0.6685082872928176	214	0.3741258741258741	416	0.5488126649076517	G	11.09	1.537057	0.27475	0.684896	0.570492	ENSG00000145545	ENST00000537411;ENST00000538824	T	0.23552	1.9	3.76	0.815	0.18763	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28073	-1.0055	7	0.87932	D	0	-7.7997	5.3187	0.15870	0.1814:0.3179:0.5008:0.0	rs248793;rs1691051;rs17850143;rs17850363;rs57936391	39	F5GXK9	.	G	39	ENSP00000440186:A39G	ENSP00000446275:A39G	A	+	2	0	SRD5A1	6686779	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	1.407000	0.34657	-0.193000	0.10415	-0.132000	0.14878	GCA	C|0.454;G|0.546		0.746	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047	
CCT5	22948	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	10258587	10258587	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:10258587C>A	ENST00000280326.4	+	6	1233	c.813C>A	c.(811-813)gtC>gtA	p.V271V	CCT5_ENST00000506600.1_Silent_p.V178V|CCT5_ENST00000515676.1_Silent_p.V233V|CCT5_ENST00000503026.1_Silent_p.V250V|CCT5_ENST00000515390.1_Silent_p.V216V	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	271					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TGACCTCTGTCGAAGATTATA	0.398																																					p.V271V		.											.	CCT5-92	0			c.C813A						.						105.0	99.0	101.0					5																	10258587		2203	4300	6503	SO:0001819	synonymous_variant	22948	exon6			CTCTGTCGAAGAT	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.813C>A	5.37:g.10258587C>A		206	0		244	34	NM_012073	0	0	125	160	35	A8JZY8|A8K2X8|B4DYD8	Silent	SNP	ENST00000280326.4	37	CCDS3877.1																																																																																			.		0.398	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2		
CDH18	1016	ucsc.edu;bcgsc.ca	37	5	19721543	19721543	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:19721543C>A	ENST00000507958.1	-	7	1546	c.556G>T	c.(556-558)Gca>Tca	p.A186S	CDH18_ENST00000274170.4_Missense_Mutation_p.A186S|CDH18_ENST00000382275.1_Missense_Mutation_p.A186S|CDH18_ENST00000502796.1_Missense_Mutation_p.A186S|CDH18_ENST00000511273.1_Missense_Mutation_p.A186S|CDH18_ENST00000506372.1_Missense_Mutation_p.A186S			Q13634	CAD18_HUMAN	cadherin 18, type 2	186	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GGGTCATCTGCATCAGTAGCT	0.433																																					p.A186S		.											.	CDH18-159	0			c.G556T						.						144.0	130.0	135.0					5																	19721543		2203	4300	6503	SO:0001583	missense	1016	exon5			CATCTGCATCAGT	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.556G>T	5.37:g.19721543C>A	ENSP00000425093:p.Ala186Ser	287	2		307	39	NM_001167667	0	0	1	1	0	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	36	5.718650	0.96839	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.5	5.5	0.81552	Cadherin (5);Cadherin-like (1);	0.113989	0.64402	D	0.000016	T	0.73094	0.3543	M	0.73598	2.24	0.52501	D	0.999959	P;P	0.42973	0.663;0.796	P;D	0.64506	0.884;0.926	T	0.70952	-0.4732	9	.	.	.	.	17.9639	0.89094	0.0:1.0:0.0:0.0	.	186;186	B4DHG6;Q13634	.;CAD18_HUMAN	S	186;186;186;186;186;186;132;186	ENSP00000371710:A186S;ENSP00000425093:A186S;ENSP00000274170:A186S;ENSP00000424931:A186S;ENSP00000422138:A186S;ENSP00000427383:A132S;ENSP00000425854:A186S	.	A	-	1	0	CDH18	19757300	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.764000	0.85297	2.571000	0.86741	0.650000	0.86243	GCA	.		0.433	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
PDZD2	23037	ucsc.edu;bcgsc.ca	37	5	32088697	32088697	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:32088697G>T	ENST00000438447.1	+	20	5531	c.5143G>T	c.(5143-5145)Gcc>Tcc	p.A1715S	PDZD2_ENST00000282493.3_Missense_Mutation_p.A1715S			O15018	PDZD2_HUMAN	PDZ domain containing 2	1715					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTCTAAAGTAGCCAGGCATTT	0.502																																					p.A1715S		.											.	PDZD2-563	0			c.G5143T						.						116.0	97.0	104.0					5																	32088697		2203	4300	6503	SO:0001583	missense	23037	exon19			AAAGTAGCCAGGC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5143G>T	5.37:g.32088697G>T	ENSP00000402033:p.Ala1715Ser	191	2		187	52	NM_178140	0	0	1	1	0	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271405	0.23221	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.05447	3.44;3.44	4.94	-9.89	0.00464	.	1.946870	0.02020	N	0.047749	T	0.03783	0.0107	L	0.29908	0.895	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.33343	-0.9872	10	0.10377	T	0.69	.	5.976	0.19379	0.1884:0.1181:0.5771:0.1163	.	1715	O15018	PDZD2_HUMAN	S	1715;1516;1715	ENSP00000402033:A1715S;ENSP00000282493:A1715S	ENSP00000282493:A1715S	A	+	1	0	PDZD2	32124454	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.167000	0.00281	-2.458000	0.00538	-0.367000	0.07326	GCC	.		0.502	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
RICTOR	253260	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	38966809	38966809	+	Silent	SNP	C	C	A	rs149142099		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:38966809C>A	ENST00000357387.3	-	15	1263	c.1233G>T	c.(1231-1233)gtG>gtT	p.V411V	RICTOR_ENST00000296782.5_Silent_p.V411V	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGTTTGTTATCACTTCAACTA	0.284																																					p.V411V		.											.	RICTOR-849	0			c.G1233T						.						76.0	72.0	74.0					5																	38966809		2203	4297	6500	SO:0001819	synonymous_variant	253260	exon15			TGTTATCACTTCA		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.1233G>T	5.37:g.38966809C>A		102	0		170	17	NM_152756	0	0	0	1	1		Silent	SNP	ENST00000357387.3	37	CCDS34148.1																																																																																			C|1.000;T|0.000		0.284	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756	
SKIV2L2	23517	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	54619984	54619984	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:54619984C>A	ENST00000230640.5	+	3	551	c.297C>A	c.(295-297)gtC>gtA	p.V99V	SKIV2L2_ENST00000504388.1_3'UTR|SKIV2L2_ENST00000545714.1_Intron	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	99					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGCCCAGAGTCAAGGTACAAT	0.348																																					p.V99V	Melanoma(2;92 134 23744 29976 33782)	.											.	SKIV2L2-92	0			c.C297A						.						94.0	81.0	86.0					5																	54619984		2203	4300	6503	SO:0001819	synonymous_variant	23517	exon3			CAGAGTCAAGGTA	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.297C>A	5.37:g.54619984C>A		168	1		167	49	NM_015360	0	0	6	8	2	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	37	CCDS3967.1																																																																																			.		0.348	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1		
KIF2A	3796	bcgsc.ca	37	5	61673487	61673487	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:61673487G>T	ENST00000401507.3	+	18	2108		c.e18-1		KIF2A_ENST00000407818.3_Splice_Site|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000506857.1_Splice_Site|KIF2A_ENST00000381103.2_Splice_Site	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TTTATTTTAAGGAAGAAGAAG	0.284																																					.		.											.	KIF2A-228	0			c.1912-1G>T						.						28.0	23.0	25.0					5																	61673487		2184	4266	6450	SO:0001630	splice_region_variant	3796	exon19			TTTTAAGGAAGAA	BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.1798-1G>T	5.37:g.61673487G>T		140	2		191	17	NM_001098511	0	0	0	0	0	A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Splice_Site	SNP	ENST00000401507.3	37	CCDS3980.2	.	.	.	.	.	.	.	.	.	.	g	24.3	4.517141	0.85495	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000407818;ENST00000506857;ENST00000512006	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF2A	61709244	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.295000	0.96095	2.882000	0.98803	0.574000	0.79327	.	.		0.284	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520	Intron
Unknown	0	bcgsc.ca	37	5	70370106	70370106	+	IGR	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:70370106G>T								GTF2H2 (6627 upstream) : snoU13 (14352 downstream)																							GTGACAATTTGCTGTTTAACT	0.343																																					.		.											.	.	0			.						.						117.0	95.0	103.0					5																	70370106		813	1585	2398	SO:0001628	intergenic_variant	0	.			CAATTTGCTGTTT																													5.37:g.70370106G>T		1350	11		1763	290	.	0	0	0	0	0		RNA	SNP		37																																																																																				.	0	0.343								
ARHGEF28	64283	ucsc.edu	37	5	73142221	73142221	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:73142221C>A	ENST00000426542.2	+	11	1576	c.1556C>A	c.(1555-1557)tCt>tAt	p.S519Y	ARHGEF28_ENST00000513042.2_Missense_Mutation_p.S519Y|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.S206Y|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.S519Y|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.S519Y|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.S519Y|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.S519Y|ARHGEF28_ENST00000513841.1_3'UTR			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	519					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										GAATTGGACTCTTTTGAGACT	0.443																																					p.S519Y		.											.	.	0			c.C1556A						.						138.0	131.0	133.0					5																	73142221		1868	4097	5965	SO:0001583	missense	64283	exon12			TGGACTCTTTTGA		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1556C>A	5.37:g.73142221C>A	ENSP00000412175:p.Ser519Tyr	135	3		144	15	NM_001080479	0	0	0	0	0	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256600	0.80246	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.21734	2.23;2.19;2.2;2.04;2.19;2.2;1.99	5.69	5.69	0.88448	.	.	.	.	.	T	0.47764	0.1463	M	0.66939	2.045	0.36897	D	0.890209	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.91635	0.998;0.997;0.968;0.999;0.986	T	0.53337	-0.8453	9	0.87932	D	0	.	18.565	0.91114	0.0:1.0:0.0:0.0	.	206;519;519;519;519	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	Y	519;519;519;519;519;519;206	ENSP00000296794:S519Y;ENSP00000441913:S519Y;ENSP00000441436:S519Y;ENSP00000287898:S519Y;ENSP00000411459:S519Y;ENSP00000412175:S519Y;ENSP00000296799:S206Y	ENSP00000287898:S519Y	S	+	2	0	RP11-428C6.1	73177977	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.844000	0.62846	2.688000	0.91661	0.484000	0.47621	TCT	.		0.443	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1		
CRHBP	1393	ucsc.edu;bcgsc.ca	37	5	76264679	76264679	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:76264679G>T	ENST00000274368.4	+	7	1360	c.938G>T	c.(937-939)aGt>aTt	p.S313I	CRHBP_ENST00000514258.1_Intron	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	313					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		AATGGAAACAGTATCGGGGAA	0.433																																					p.S313I		.											.	CRHBP-90	0			c.G938T						.						143.0	131.0	135.0					5																	76264679		2203	4300	6503	SO:0001583	missense	1393	exon7			GAAACAGTATCGG	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.938G>T	5.37:g.76264679G>T	ENSP00000274368:p.Ser313Ile	197	3		197	54	NM_001882	0	0	1	1	0	Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	37	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395861	0.62177	.	.	ENSG00000145708	ENST00000274368	.	.	.	5.64	4.76	0.60689	.	0.042105	0.85682	D	0.000000	T	0.59169	0.2174	L	0.52573	1.65	0.80722	D	1	B	0.19200	0.034	B	0.17433	0.018	T	0.59408	-0.7460	9	0.87932	D	0	-29.7394	16.2089	0.82146	0.0:0.0:0.8657:0.1343	.	313	P24387	CRHBP_HUMAN	I	313	.	ENSP00000274368:S313I	S	+	2	0	CRHBP	76300435	1.000000	0.71417	0.963000	0.40424	0.381000	0.30169	3.700000	0.54786	1.494000	0.48533	0.655000	0.94253	AGT	.		0.433	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882	
MSH3	4437	hgsc.bcm.edu	37	5	79950715	79950715	+	Missense_Mutation	SNP	G	G	C	rs144776112|rs201874762		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:79950715G>C	ENST00000265081.6	+	1	249	c.169G>C	c.(169-171)Gcc>Ccc	p.A57P	DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000511032.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	57	Poly-Ala.		Missing. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8942985}.		ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ggctgcagcggccgcagcggc	0.692								Mismatch excision repair (MMR)																													p.A57P	Melanoma(88;1010 1399 13793 26548 36275)	.											.	MSH3-661	0			c.G169C						.						7.0	7.0	7.0					5																	79950715		2089	4077	6166	SO:0001583	missense	4437	exon1			GCAGCGGCCGCAG	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.169G>C	5.37:g.79950715G>C	ENSP00000265081:p.Ala57Pro	10	0		23	11	NM_002439	0	0	1	1	0	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	CCDS34195.1	362	0.16575091575091574	115	0.23373983739837398	67	0.1850828729281768	32	0.055944055944055944	148	0.19525065963060687	-	0.222	-1.028222	0.02045	.	.	ENSG00000113318	ENST00000265081	D	0.87256	-2.23	.	.	.	.	.	.	.	.	T	0.00039	0.0001	N	0.03608	-0.345	0.80722	P	0.0	.	.	.	.	.	.	T	0.02983	-1.1086	3	.	.	.	.	.	.	.	.	57	P20585	MSH3_HUMAN	P	57	ENSP00000265081:A57P	.	A	+	1	0	MSH3	79986471	0.041000	0.20044	0.049000	0.19019	0.152000	0.21847	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GCC	G|0.834;C|0.166		0.692	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439	
GPR98	84059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	89923239	89923239	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:89923239G>T	ENST00000405460.2	+	7	980	c.884G>T	c.(883-885)gGa>gTa	p.G295V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	295	Calx-beta 3. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATCTGATTGGATCTGATGAA	0.418																																					p.G295V		.											.	GPR98-103	0			c.G884T						.						143.0	136.0	139.0					5																	89923239		1925	4133	6058	SO:0001583	missense	84059	exon7			TGATTGGATCTGA	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.884G>T	5.37:g.89923239G>T	ENSP00000384582:p.Gly295Val	173	0		168	23	NM_032119	0	0	0	0	0	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169338	0.78339	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.35605	1.3	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75569	-0.3272	10	0.87932	D	0	.	19.8276	0.96624	0.0:0.0:1.0:0.0	.	295	Q8WXG9	GPR98_HUMAN	V	295	ENSP00000384582:G295V	ENSP00000296619:G295V	G	+	2	0	GPR98	89958995	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	6.048000	0.71046	2.697000	0.92050	0.585000	0.79938	GGA	.		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	90106472	90106472	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:90106472G>T	ENST00000405460.2	+	74	15491	c.15395G>T	c.(15394-15396)gGa>gTa	p.G5132V	GPR98_ENST00000425867.2_Missense_Mutation_p.G793V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5132					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GACCTGGCAGGAATGGATATT	0.428																																					p.G5132V		.											.	GPR98-103	0			c.G15395T						.						165.0	164.0	165.0					5																	90106472		1938	4140	6078	SO:0001583	missense	84059	exon74			TGGCAGGAATGGA	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15395G>T	5.37:g.90106472G>T	ENSP00000384582:p.Gly5132Val	72	0		86	4	NM_032119	0	0	0	0	0	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	3.418	-0.118824	0.06838	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.54866	1.18;0.55	5.23	-1.77	0.07982	.	0.965261	0.08547	N	0.929559	T	0.35828	0.0945	L	0.42245	1.32	0.19945	N	0.999941	B;B;B	0.10296	0.002;0.0;0.003	B;B;B	0.12156	0.005;0.0;0.007	T	0.26815	-1.0092	9	.	.	.	.	1.0652	0.01609	0.4127:0.1539:0.2761:0.1573	.	793;5132;793	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	V	5132;5132;793	ENSP00000384582:G5132V;ENSP00000392618:G793V	.	G	+	2	0	GPR98	90142228	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.302000	0.08221	-0.038000	0.13624	0.563000	0.77884	GGA	.		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
SPATA9	83890	ucsc.edu;bcgsc.ca	37	5	95018528	95018528	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:95018528C>A	ENST00000274432.8	-	1	172	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Missense_Mutation_p.G11W	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	11					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		AACACCTGCCCACATATCCAC	0.468																																					p.G11W		.											.	SPATA9-90	0			c.G31T						.						148.0	140.0	143.0					5																	95018528		2203	4300	6503	SO:0001583	missense	83890	exon1			CCTGCCCACATAT	AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.31G>T	5.37:g.95018528C>A	ENSP00000274432:p.Gly11Trp	136	2		191	34	NM_031952	0	0	0	0	0	A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	ENST00000274432.8	37	CCDS4076.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535670	0.64972	.	.	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.65549	-0.16	4.8	4.8	0.61643	.	0.000000	0.47093	D	0.000251	T	0.67664	0.2917	L	0.27053	0.805	0.39308	D	0.965029	D	0.89917	1.0	D	0.97110	1.0	T	0.72411	-0.4302	10	0.87932	D	0	-17.2063	13.2272	0.59921	0.0:1.0:0.0:0.0	.	11	Q9BWV2	SPAT9_HUMAN	W	11	ENSP00000274432:G11W	ENSP00000274432:G11W	G	-	1	0	SPATA9	95044284	0.994000	0.37717	1.000000	0.80357	0.970000	0.65996	2.371000	0.44248	2.477000	0.83638	0.563000	0.77884	GGG	.		0.468	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952	
SEMA6A	57556	broad.mit.edu;bcgsc.ca	37	5	115837909	115837909	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:115837909G>T	ENST00000343348.6	-	3	1002	c.215C>A	c.(214-216)gCt>gAt	p.A72D	SEMA6A_ENST00000510263.1_Missense_Mutation_p.A72D|SEMA6A_ENST00000257414.8_Missense_Mutation_p.A72D|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000503962.1_5'UTR	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	72	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CCCTTACCTAGCAGCAATGTA	0.488																																					p.A72D		.											.	SEMA6A-92	0			c.C215A						.						201.0	200.0	200.0					5																	115837909		2015	4158	6173	SO:0001583	missense	57556	exon3			TACCTAGCAGCAA	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.215C>A	5.37:g.115837909G>T	ENSP00000345512:p.Ala72Asp	174	1		228	11	NM_020796	0	0	0	0	0	Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525205	0.64747	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263;ENST00000515009;ENST00000509665	T;T;T;T;T	0.44482	1.07;1.07;1.07;0.92;0.92	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.107041	0.64402	D	0.000007	T	0.44393	0.1291	L	0.58583	1.82	0.80722	D	1	B;B	0.30634	0.148;0.288	B;B	0.28709	0.093;0.056	T	0.45760	-0.9239	10	0.87932	D	0	.	18.929	0.92556	0.0:0.0:1.0:0.0	.	72;72	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	D	72	ENSP00000345512:A72D;ENSP00000257414:A72D;ENSP00000424388:A72D;ENSP00000421935:A72D;ENSP00000425553:A72D	ENSP00000257414:A72D	A	-	2	0	SEMA6A	115865808	1.000000	0.71417	0.992000	0.48379	0.935000	0.57460	7.637000	0.83313	2.575000	0.86900	0.650000	0.86243	GCT	.		0.488	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796	
CCNI2	645121	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	132087879	132087879	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:132087879G>T	ENST00000378731.1	+	5	1047	c.996G>T	c.(994-996)aaG>aaT	p.K332N	SEPT8_ENST00000481030.1_Intron|SEPT8_ENST00000378719.2_Intron	NM_001039780.2	NP_001034869.1	Q6ZMN8	CCNI2_HUMAN	cyclin I family, member 2	332					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCTGCTAAAGAAAGCACAGG	0.532																																					p.K332N		.											.	CCNI2-68	0			c.G996T						.						27.0	24.0	25.0					5																	132087879		2202	4300	6502	SO:0001583	missense	645121	exon5			GCTAAAGAAAGCA	BC132837	CCDS34236.1, CCDS75297.1	5q31.1	2014-07-03			ENSG00000205089	ENSG00000205089			33869	protein-coding gene	gene with protein product						23707792	Standard	NM_001287252		Approved	FLJ16793	uc003kxq.1	Q6ZMN8	OTTHUMG00000059737	ENST00000378731.1:c.996G>T	5.37:g.132087879G>T	ENSP00000368005:p.Lys332Asn	111	0		157	18	NM_001039780	0	0	0	0	0	B2RNE2|B7ZMB7|B7ZMB8	Missense_Mutation	SNP	ENST00000378731.1	37	CCDS34236.1	.	.	.	.	.	.	.	.	.	.	g	17.87	3.495260	0.64186	.	.	ENSG00000205089	ENST00000378731	T	0.47177	0.85	5.6	5.6	0.85130	.	0.103125	0.64402	D	0.000004	T	0.61949	0.2388	M	0.68952	2.095	0.80722	D	1	D;D;D	0.69078	0.995;0.997;0.997	P;P;P	0.62435	0.861;0.902;0.874	T	0.63567	-0.6608	10	0.62326	D	0.03	.	11.06	0.47942	0.1122:0.0:0.8878:0.0	.	333;348;332	B7ZMB7;B7ZMB8;Q6ZMN8	.;.;CCNI2_HUMAN	N	332	ENSP00000368005:K332N	ENSP00000368005:K332N	K	+	3	2	CCNI2	132115778	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.314000	0.43743	2.789000	0.95967	0.651000	0.88453	AAG	.		0.532	CCNI2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132833.1	NM_001039780	
SEPT8	23176	hgsc.bcm.edu;bcgsc.ca	37	5	132097158	132097158	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:132097158C>A	ENST00000378719.2	-	7	1191	c.954G>T	c.(952-954)caG>caT	p.Q318H	SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000448933.1_Missense_Mutation_p.Q258H|SEPT8_ENST00000378701.1_Missense_Mutation_p.Q316H|SEPT8_ENST00000378721.4_Missense_Mutation_p.Q316H|SEPT8_ENST00000296873.7_Missense_Mutation_p.Q318H|SEPT8_ENST00000458488.2_Missense_Mutation_p.Q318H|SEPT8_ENST00000378699.2_Missense_Mutation_p.Q258H|SEPT8_ENST00000378706.1_Missense_Mutation_p.Q318H	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	318					cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCTGAAGGGCTGGCTGTCAC	0.612																																					p.Q318H		.											.	SEPT8-70	0			c.G954T						.						56.0	62.0	60.0					5																	132097158		2168	4280	6448	SO:0001583	missense	23176	exon7			GAAGGGCTGGCTG	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"""Septins"""	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.954G>T	5.37:g.132097158C>A	ENSP00000367991:p.Gln318His	48	0		60	6	NM_015146	0	0	0	0	0	A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.054573	0.55218	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	D;D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.28	2.51	0.30379	.	0.191448	0.46758	N	0.000274	T	0.77798	0.4184	L	0.43923	1.385	0.52099	D	0.999943	P;P;P;P	0.47604	0.832;0.832;0.739;0.898	P;B;P;P	0.45474	0.45;0.332;0.482;0.45	T	0.74937	-0.3494	10	0.87932	D	0	.	8.3549	0.32324	0.0:0.7308:0.1285:0.1407	.	316;316;318;318	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	H	318;316;318;258;318;258;316;318	ENSP00000367991:Q318H;ENSP00000367993:Q316H;ENSP00000296873:Q318H;ENSP00000399840:Q258H;ENSP00000367978:Q318H;ENSP00000367971:Q258H;ENSP00000367973:Q316H;ENSP00000394766:Q318H	ENSP00000296873:Q318H	Q	-	3	2	SEPT8	132125057	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.698000	0.47068	0.221000	0.20879	0.561000	0.74099	CAG	.		0.612	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872	
SOWAHA	134548	hgsc.bcm.edu	37	5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	rs40274	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2.0	3.0	3.0		371	-0.3	0.0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"""Ankyrin repeat domain containing"""	27033	protein-coding gene	gene with protein product			"""ankyrin repeat domain 43"""	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	0	0		9	9	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	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	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873	
AFF4	27125	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	132272803	132272803	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:132272803C>T	ENST00000265343.5	-	2	458	c.79G>A	c.(79-81)Gcc>Acc	p.A27T	AFF4_ENST00000378595.3_Missense_Mutation_p.A27T|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	27					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTGGGAAGGCGTCTTCGCCC	0.443																																					p.A27T	Ovarian(126;889 1733 2942 10745 11605)	.											.	AFF4-229	0			c.G79A						.						108.0	90.0	96.0					5																	132272803		2203	4300	6503	SO:0001583	missense	27125	exon2			GGAAGGCGTCTTC	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.79G>A	5.37:g.132272803C>T	ENSP00000265343:p.Ala27Thr	129	0		150	10	NM_014423	0	0	3	3	0	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444321	0.83993	.	.	ENSG00000072364	ENST00000265343;ENST00000378595;ENST00000421773	T;T;T	0.66638	-0.22;-0.22;-0.22	5.73	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.73799	0.3633	L	0.42487	1.325	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.992;0.996;0.996	T	0.67975	-0.5531	10	0.12430	T	0.62	-0.4089	16.4417	0.83903	0.0:0.7519:0.2481:0.0	.	27;27;27	Q9UHB7-3;Q9UHB7-2;Q9UHB7	.;.;AFF4_HUMAN	T	27	ENSP00000265343:A27T;ENSP00000367858:A27T;ENSP00000395268:A27T	ENSP00000265343:A27T	A	-	1	0	AFF4	132300702	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.079000	0.50104	0.745000	0.32763	0.557000	0.71058	GCC	.		0.443	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423	
PROB1	389333	hgsc.bcm.edu	37	5	138728147	138728147	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:138728147C>A	ENST00000434752.2	-	1	2738	c.2624G>T	c.(2623-2625)gGg>gTg	p.G875V	MZB1_ENST00000302125.8_5'Flank|MZB1_ENST00000412103.2_5'Flank|MZB1_ENST00000457570.2_5'Flank	NM_001161546.1	NP_001155018.1	E7EW31	PROB1_HUMAN	proline-rich basic protein 1	875	Pro-rich.																GGGCGCGGCCCCGGGCTGCCT	0.761																																					p.G875V		.											.	.	0			c.G2624T						.						2.0	3.0	3.0					5																	138728147		488	1252	1740	SO:0001583	missense	389333	exon1			GCGGCCCCGGGCT	AK316483	CCDS54909.1	5q31.2	2012-10-01	2012-10-01	2012-10-01	ENSG00000228672	ENSG00000228672			41906	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 65"""	C5orf65			Standard	NM_001161546		Approved		uc011czc.1	E7EW31		ENST00000434752.2:c.2624G>T	5.37:g.138728147C>A	ENSP00000416033:p.Gly875Val	2	0		17	5	NM_001161546	0	0	0	0	0	B4E007	Missense_Mutation	SNP	ENST00000434752.2	37	CCDS54909.1	.	.	.	.	.	.	.	.	.	.	c	11.24	1.579914	0.28180	.	.	ENSG00000228672	ENST00000434752	T	0.40756	1.02	4.07	3.18	0.36537	.	.	.	.	.	T	0.53706	0.1813	L	0.60455	1.87	0.09310	N	0.999997	D	0.62365	0.991	P	0.57960	0.83	T	0.42413	-0.9453	9	0.51188	T	0.08	.	11.8516	0.52415	0.0:0.822:0.178:0.0	.	875	E7EW31	CE065_HUMAN	V	875	ENSP00000416033:G875V	ENSP00000416033:G875V	G	-	2	0	AC135457.1	138756046	0.000000	0.05858	0.035000	0.18076	0.059000	0.15707	0.087000	0.14958	1.045000	0.40225	0.556000	0.70494	GGG	.		0.761	PROB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470735.1	NM_001161546	
PCDHA6	56142	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	140207893	140207893	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:140207893G>T	ENST00000529310.1	+	1	331	c.217G>T	c.(217-219)Gac>Tac	p.D73Y	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D73Y	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	73	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCGCGAGGACCTTCTGGA	0.627																																					p.D73Y		.											.	PCDHA6-92	0			c.G217T						.						111.0	127.0	121.0					5																	140207893		2203	4300	6503	SO:0001583	missense	56142	exon1			CGCGAGGACCTTC	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.217G>T	5.37:g.140207893G>T	ENSP00000433378:p.Asp73Tyr	114	0		162	12	NM_031849	0	0	1	1	0	O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564422	0.27915	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.28069	1.63;1.63	3.87	3.87	0.44632	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.38663	U	0.001602	T	0.53997	0.1831	M	0.84156	2.68	0.21290	N	0.999735	D;D;D	0.71674	0.998;0.977;0.969	P;P;P	0.62435	0.885;0.902;0.901	T	0.51100	-0.8748	10	0.87932	D	0	.	13.354	0.60617	0.0:0.1721:0.8279:0.0	.	73;73;73	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	Y	73	ENSP00000433378:D73Y;ENSP00000434113:D73Y	ENSP00000434113:D73Y	D	+	1	0	PCDHA6	140188077	0.001000	0.12720	0.996000	0.52242	0.300000	0.27592	0.695000	0.25527	2.139000	0.66308	0.313000	0.20887	GAC	.		0.627	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909	
PCDHB13	56123	ucsc.edu	37	5	140594815	140594815	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:140594815C>A	ENST00000341948.4	+	1	1307	c.1120C>A	c.(1120-1122)Ctt>Att	p.L374I		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	374	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTTCAGATCTTGATTCAGG	0.463																																					p.L374I		.											.	PCDHB13-93	0			c.C1120A						.						149.0	143.0	145.0					5																	140594815		2203	4300	6503	SO:0001583	missense	56123	exon1			TCAGATCTTGATT	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1120C>A	5.37:g.140594815C>A	ENSP00000345491:p.Leu374Ile	187	5		241	51	NM_018933	0	0	4	8	4	A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	N	12.77	2.037812	0.35989	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.01745	4.66	3.5	0.191	0.15130	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02230	0.0069	L	0.47716	1.5	0.09310	N	1	B	0.13145	0.007	B	0.19666	0.026	T	0.40459	-0.9562	9	0.51188	T	0.08	.	7.8069	0.29209	0.2959:0.4152:0.2888:0.0	.	374	Q9Y5F0	PCDBD_HUMAN	I	374	ENSP00000345491:L374I	ENSP00000345491:L374I	L	+	1	0	PCDHB13	140574999	0.000000	0.05858	0.000000	0.03702	0.855000	0.48748	-1.596000	0.02091	-0.246000	0.09611	0.298000	0.19748	CTT	.		0.463	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933	
PCDHGA7	56108	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140763290	140763290	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:140763290G>T	ENST00000518325.1	+	1	824	c.824G>T	c.(823-825)gGg>gTg	p.G275V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	275	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGTCAATGGGGAAGTGACA	0.438																																					p.G275V		.											.	.	0			c.G824T						.						51.0	51.0	51.0					5																	140763290		1943	4139	6082	SO:0001583	missense	56108	exon1			TCAATGGGGAAGT	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.824G>T	5.37:g.140763290G>T	ENSP00000430024:p.Gly275Val	127	2		182	44	NM_032087	0	0	0	0	0	B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	17.18	3.323856	0.60634	.	.	ENSG00000253537	ENST00000518325	T	0.44881	0.91	5.3	4.37	0.52481	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.70868	0.3273	M	0.92219	3.285	0.49582	D	0.999808	D;D	0.61080	0.98;0.989	D;D	0.74023	0.982;0.929	T	0.78481	-0.2187	9	0.87932	D	0	.	14.3455	0.66658	0.0:0.2703:0.7297:0.0	.	275;275	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	V	275	ENSP00000430024:G275V	ENSP00000430024:G275V	G	+	2	0	PCDHGA7	140743474	0.994000	0.37717	0.997000	0.53966	0.994000	0.84299	2.197000	0.42696	2.627000	0.88993	0.655000	0.94253	GGG	.		0.438	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920	
ARHGAP26	23092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	142264925	142264925	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:142264925G>T	ENST00000274498.4	+	5	825	c.447G>T	c.(445-447)ttG>ttT	p.L149F	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.L149F	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	149					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAAACACTTGAATTTGTCTT	0.333																																					p.L149F		.											.	ARHGAP26-660	0			c.G447T						.						104.0	114.0	111.0					5																	142264925		2203	4300	6503	SO:0001583	missense	23092	exon5			ACACTTGAATTTG	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.447G>T	5.37:g.142264925G>T	ENSP00000274498:p.Leu149Phe	239	0		296	75	NM_015071	0	0	0	0	0	O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285720	0.59867	.	.	ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000378013	T;T;T	0.35605	1.3;1.3;1.3	5.9	5.03	0.67393	IRSp53/MIM homology domain (IMD) (2);	0.067048	0.64402	D	0.000016	T	0.57829	0.2080	M	0.77103	2.36	0.58432	D	0.999996	D;D	0.67145	0.996;0.993	D;D	0.70716	0.97;0.954	T	0.62129	-0.6919	10	0.72032	D	0.01	.	10.1319	0.42685	0.1915:0.0:0.8085:0.0	.	149;149	Q9UNA1;Q9UNA1-2	RHG26_HUMAN;.	F	149;149;121	ENSP00000274498:L149F;ENSP00000367243:L149F;ENSP00000367252:L121F	ENSP00000274498:L149F	L	+	3	2	ARHGAP26	142245109	0.994000	0.37717	1.000000	0.80357	0.991000	0.79684	0.328000	0.19681	1.499000	0.48617	0.563000	0.77884	TTG	.		0.333	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071	
ITK	3702	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	156671402	156671402	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:156671402G>T	ENST00000422843.3	+	13	1515	c.1363G>T	c.(1363-1365)Gct>Tct	p.A455S	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	455	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	GGGACTTTTTGCTGCAGAGAC	0.572			T	SYK	peripheral T-cell lymphoma																																p.A455S	Esophageal Squamous(70;1378 1469 8785 19883)	.		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	.	ITK-1427	0			c.G1363T						.						96.0	94.0	94.0					5																	156671402		2203	4300	6503	SO:0001583	missense	3702	exon13			CTTTTTGCTGCAG	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1363G>T	5.37:g.156671402G>T	ENSP00000398655:p.Ala455Ser	149	1		123	43	NM_005546	0	0	0	0	0	B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	G	7.887	0.731520	0.15507	.	.	ENSG00000113263	ENST00000422843	T	0.59364	0.27	6.08	4.15	0.48705	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.214218	0.50627	D	0.000114	T	0.18551	0.0445	N	0.00738	-1.235	0.38184	D	0.939711	B	0.02656	0.0	B	0.04013	0.001	T	0.42258	-0.9462	10	0.02654	T	1	.	7.1791	0.25761	0.086:0.0:0.6:0.3139	.	455	Q08881	ITK_HUMAN	S	455	ENSP00000398655:A455S	ENSP00000398655:A455S	A	+	1	0	ITK	156603980	0.999000	0.42202	0.995000	0.50966	0.917000	0.54804	1.433000	0.34947	2.894000	0.99253	0.591000	0.81541	GCT	.		0.572	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2		
CYFIP2	26999	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	156753261	156753261	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:156753261G>T	ENST00000521420.1	+	17	2078	c.1987G>T	c.(1987-1989)Gag>Tag	p.E663*	CYFIP2_ENST00000347377.6_Nonsense_Mutation_p.E689*|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.E714*|CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.E614*|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.E493*|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.E689*|CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.E388*					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGTACGATGAGATAGAAGC	0.433																																					p.E689X		.											.	CYFIP2-22	0			c.G2065T						.						161.0	158.0	159.0					5																	156753261		1954	4143	6097	SO:0001587	stop_gained	26999	exon18			TACGATGAGATAG	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1987G>T	5.37:g.156753261G>T	ENSP00000430904:p.Glu663*	153	1		129	21	NM_001037332	0	0	4	4	0		Nonsense_Mutation	SNP	ENST00000521420.1	37		.	.	.	.	.	.	.	.	.	.	G	42	9.795583	0.99266	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.153	18.5881	0.91197	0.0:0.0:1.0:0.0	.	.	.	.	X	714;493;663;689;689;614;388	.	ENSP00000325817:E714X	E	+	1	0	CYFIP2	156685839	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.759000	0.98931	2.457000	0.83068	0.655000	0.94253	GAG	.		0.433	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332	
IL12B	3593	bcgsc.ca	37	5	158750252	158750252	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:158750252G>T	ENST00000231228.2	-	3	629	c.174C>A	c.(172-174)atC>atA	p.I58I		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	58	Ig-like C2-type.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGTCCAGGTGATACCATCTT	0.502																																					p.I58I		.											.	IL12B-90	0			c.C174A						.						94.0	84.0	88.0					5																	158750252		2203	4300	6503	SO:0001819	synonymous_variant	3593	exon3			CCAGGTGATACCA	M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.174C>A	5.37:g.158750252G>T		142	3		148	43	NM_002187	0	0	0	0	0		Silent	SNP	ENST00000231228.2	37	CCDS4346.1																																																																																			.		0.502	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187	
RANBP17	64901	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	170668124	170668124	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:170668124C>A	ENST00000523189.1	+	23	2779	c.2615C>A	c.(2614-2616)tCa>tAa	p.S872*	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	872					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATGCTGCTGTCAGTGTCCCAC	0.433			T	TRD@	ALL																																p.S872X		.		Dom	yes		5	5q34	64901	RAN binding protein 17		L	.	RANBP17-524	0			c.C2615A						.						149.0	140.0	143.0					5																	170668124		2203	4300	6503	SO:0001587	stop_gained	64901	exon23			TGCTGTCAGTGTC	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2615C>A	5.37:g.170668124C>A	ENSP00000427975:p.Ser872*	84	0		110	29	NM_022897	0	0	6	6	0	Q8IU74	Nonsense_Mutation	SNP	ENST00000523189.1	37	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	C	43	9.941746	0.99300	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	.	.	.	5.56	4.69	0.59074	.	0.144353	0.32231	N	0.006392	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-4.9965	14.4038	0.67068	0.0:0.9291:0.0:0.0709	.	.	.	.	X	872;302	.	ENSP00000427975:S872X	S	+	2	0	RANBP17	170600729	1.000000	0.71417	0.946000	0.38457	0.997000	0.91878	7.818000	0.86416	1.357000	0.45904	0.650000	0.86243	TCA	.		0.433	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897	
ARL10	285598	hgsc.bcm.edu	37	5	175792605	175792605	+	Silent	SNP	G	G	C	rs2303667	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:175792605G>C	ENST00000310389.5	+	1	135	c.39G>C	c.(37-39)ctG>ctC	p.L13L	MIR1271_ENST00000408537.1_RNA	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	13					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		TGCTGGCGCTGGGCGGCGCCG	0.756													G|||	2787	0.55651	0.5938	0.4928	5008	,	,		9772	0.5556		0.6093	False		,,,				2504	0.498				p.L13L		.											.	ARL10-91	0			c.G39C						.	G		1858,1528		603,652,438	3.0	4.0	3.0		39	3.2	0.8	5	dbSNP_100	3	4085,2705		1416,1253,726	no	coding-synonymous	ARL10	NM_173664.4		2019,1905,1164	CC,CG,GG		39.838,45.127,41.5979		13/245	175792605	5943,4233	1693	3395	5088	SO:0001819	synonymous_variant	285598	exon1			GGCGCTGGGCGGC	BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22042	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10A"""	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.39G>C	5.37:g.175792605G>C		0	0		9	9	NM_173664	0	0	0	0	0		Silent	SNP	ENST00000310389.5	37	CCDS4400.1																																																																																			G|0.585;C|0.415		0.756	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253145.2	NM_173664	
COL23A1	91522	broad.mit.edu;ucsc.edu	37	5	177690260	177690260	+	Silent	SNP	G	G	T	rs369913463		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:177690260G>T	ENST00000390654.3	-	9	945	c.588C>A	c.(586-588)ggC>ggA	p.G196G	COL23A1_ENST00000407622.1_Silent_p.G160G	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	196	Collagen-like 1.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CGCCAGGAGGGCCCCGGGCCC	0.657																																					p.G196G		.											.	COL23A1-91	0			c.C588A						.	G		0,3716		0,0,1858	28.0	30.0	29.0		588	-1.6	1.0	5		29	1,8175		0,1,4087	no	coding-synonymous	COL23A1	NM_173465.3		0,1,5945	TT,TG,GG		0.0122,0.0,0.0084		196/541	177690260	1,11891	1858	4088	5946	SO:0001819	synonymous_variant	91522	exon9			AGGAGGGCCCCGG	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.588C>A	5.37:g.177690260G>T		48	1		78	13	NM_173465	0	0	0	0	0	Q8IVR4|Q9NT93	Silent	SNP	ENST00000390654.3	37	CCDS4436.1																																																																																			.		0.657	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465	
BTNL3	10917	broad.mit.edu	37	5	180432368	180432368	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:180432368G>T	ENST00000342868.6	+	8	1081	c.897G>T	c.(895-897)ccG>ccT	p.P299P	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	299	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	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;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CGGCTCACCCGAAGCTCTGCG	0.532																																					p.P299P		.											.	.	0			c.G897T						.						39.0	45.0	43.0					5																	180432368		2199	4274	6473	SO:0001819	synonymous_variant	10917	exon8			TCACCCGAAGCTC	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.897G>T	5.37:g.180432368G>T		130	0		124	3	NM_197975	0	0	0	0	0	Q496L7|Q9Y2C7	Silent	SNP	ENST00000342868.6	37	CCDS47358.1																																																																																			.		0.532	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975	
BTNL9	153579	broad.mit.edu;bcgsc.ca	37	5	180477228	180477228	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:180477228G>T	ENST00000327705.9	+	4	826	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	BTNL9_ENST00000515271.1_Nonsense_Mutation_p.E130*|BTNL9_ENST00000376842.3_Nonsense_Mutation_p.E199*|BTNL9_ENST00000376841.2_Nonsense_Mutation_p.E199*	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	199						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-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)			TCCAGAGTTTGAAGCCATCGT	0.572																																					p.E199X		.											.	BTNL9-91	0			c.G595T						.						117.0	114.0	115.0					5																	180477228		2203	4300	6503	SO:0001587	stop_gained	153579	exon4			GAGTTTGAAGCCA	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.595G>T	5.37:g.180477228G>T	ENSP00000330200:p.Glu199*	180	2		170	10	NM_152547	0	0	3	3	0	A6NL42|Q6P660|Q96DM5	Nonsense_Mutation	SNP	ENST00000327705.9	37	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.639781	0.87760	.	.	ENSG00000165810	ENST00000376841;ENST00000327705;ENST00000376842;ENST00000376850;ENST00000515271	.	.	.	4.58	3.71	0.42584	.	0.000000	0.42682	D	0.000677	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	7.1157	0.25414	0.2005:0.0:0.7995:0.0	.	.	.	.	X	199;199;199;199;130	.	ENSP00000330200:E199X	E	+	1	0	BTNL9	180409834	0.982000	0.34865	0.839000	0.33178	0.280000	0.26924	2.177000	0.42509	1.307000	0.44944	0.650000	0.86243	GAA	.		0.572	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547	
OR2V2	285659	broad.mit.edu;bcgsc.ca	37	5	180582781	180582781	+	Missense_Mutation	SNP	C	C	T	rs200222451		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:180582781C>T	ENST00000328275.1	+	1	839	c.839C>T	c.(838-840)aCg>aTg	p.T280M		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCTTCTACACGGTCCTTACT	0.592													c|||	1	0.000199681	0.0	0.0	5008	,	,		18706	0.001		0.0	False		,,,				2504	0.0				p.T280M		.											.	OR2V2-69	0			c.C839T						.	C	MET/THR	0,4406		0,0,2203	49.0	50.0	50.0		839	1.7	0.7	5		50	1,8599		0,1,4299	no	missense	OR2V2	NM_206880.1	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	280/316	180582781	1,13005	2203	4300	6503	SO:0001583	missense	285659	exon1			TCTACACGGTCCT	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.839C>T	5.37:g.180582781C>T	ENSP00000332185:p.Thr280Met	257	1		239	12	NM_206880	0	0	0	0	0	Q6IFL6|Q8NGV1	Missense_Mutation	SNP	ENST00000328275.1	37	CCDS4461.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	9.348	1.064863	0.20067	0.0	1.16E-4	ENSG00000182613	ENST00000328275	T	0.00262	8.4	3.48	1.66	0.24008	GPCR, rhodopsin-like superfamily (1);	0.198103	0.25186	N	0.032483	T	0.00552	0.0018	M	0.88906	2.99	0.29317	N	0.867637	D	0.89917	1.0	D	0.97110	1.0	T	0.25363	-1.0134	10	0.87932	D	0	.	7.1916	0.25828	0.0:0.7698:0.0:0.2302	.	280	Q96R30	OR2V2_HUMAN	M	280	ENSP00000332185:T280M	ENSP00000332185:T280M	T	+	2	0	OR2V2	180515387	0.000000	0.05858	0.711000	0.30485	0.045000	0.14185	0.716000	0.25836	0.291000	0.22468	0.305000	0.20034	ACG	C|0.999;T|0.000		0.592	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1		
NQO2	4835	broad.mit.edu	37	6	3012810	3012810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:3012810G>T	ENST00000338130.2	+	7	917	c.205G>T	c.(205-207)Gga>Tga	p.G69*	NQO2_ENST00000380441.1_Nonsense_Mutation_p.G69*|NQO2_ENST00000380455.4_Nonsense_Mutation_p.G69*|NQO2_ENST00000380430.1_Nonsense_Mutation_p.G69*|NQO2_ENST00000380454.4_Nonsense_Mutation_p.G69*			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	69					memory (GO:0007613)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	dihydronicotinamide riboside quinone reductase activity (GO:0001512)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADPH dehydrogenase (quinone) activity (GO:0008753)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)	TTTCAATTATGGAGTGGAAAC	0.502																																					p.G69X		.											.	NQO2-91	0			c.G205T						.						120.0	115.0	116.0					6																	3012810		2203	4300	6503	SO:0001587	stop_gained	4835	exon4			AATTATGGAGTGG	U07736	CCDS4481.1, CCDS75388.1	6p25.2	2012-09-20	2001-11-30	2001-12-07	ENSG00000124588	ENSG00000124588	1.6.5.2		7856	protein-coding gene	gene with protein product		160998	"""NAD(P)H menadione oxidoreductase 2, dioxin-inducible"""	NMOR2		1691923	Standard	XM_005249152		Approved	QR2, DHQV, DIA6	uc003mus.2	P16083	OTTHUMG00000014130	ENST00000338130.2:c.205G>T	6.37:g.3012810G>T	ENSP00000337773:p.Gly69*	193	0		220	5	NM_000904	0	0	162	163	1	B2R492|Q5TD04	Nonsense_Mutation	SNP	ENST00000338130.2	37	CCDS4481.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320765	0.41096	.	.	ENSG00000124588	ENST00000380472;ENST00000538898;ENST00000397717;ENST00000338130;ENST00000380441;ENST00000380455;ENST00000380454;ENST00000380430	.	.	.	5.65	4.75	0.60458	.	0.391048	0.29253	N	0.012687	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.8351	14.3805	0.66908	0.0:0.0:0.853:0.147	.	.	.	.	X	69;116;69;69;69;69;69;69	.	.	G	+	1	0	NQO2	2957809	0.863000	0.29885	0.315000	0.25238	0.007000	0.05969	3.542000	0.53625	2.659000	0.90383	0.655000	0.94253	GGA	.		0.502	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039651.1		
HIVEP1	3096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	12121200	12121200	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:12121200G>T	ENST00000379388.2	+	4	1504	c.1172G>T	c.(1171-1173)tGc>tTc	p.C391F		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	391					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAGCAAATGTGCAATCTTCTT	0.383																																					p.C391F		.											.	HIVEP1-139	0			c.G1172T						.						107.0	102.0	103.0					6																	12121200		1973	4174	6147	SO:0001583	missense	3096	exon4			AAATGTGCAATCT	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.1172G>T	6.37:g.12121200G>T	ENSP00000368698:p.Cys391Phe	77	0		82	19	NM_002114	0	0	0	0	0	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645424	0.47258	.	.	ENSG00000095951	ENST00000379388	T	0.09817	2.94	5.2	3.07	0.35406	.	0.213702	0.23997	N	0.042511	T	0.10252	0.0251	M	0.69823	2.125	0.80722	D	1	P	0.49635	0.926	P	0.47744	0.556	T	0.05178	-1.0901	9	.	.	.	-5.749	12.5509	0.56225	0.16:0.0:0.84:0.0	.	391	P15822	ZEP1_HUMAN	F	391	ENSP00000368698:C391F	.	C	+	2	0	HIVEP1	12229186	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.863000	0.48396	1.185000	0.42971	0.650000	0.86243	TGC	.		0.383	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114	
HIVEP1	3096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	12163624	12163624	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:12163624C>A	ENST00000379388.2	+	9	7419	c.7087C>A	c.(7087-7089)Cag>Aag	p.Q2363K	HIVEP1_ENST00000541134.1_Missense_Mutation_p.Q228K	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2363					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGAACAGAAGCAGCAAATAAC	0.542																																					p.Q2363K		.											.	HIVEP1-139	0			c.C7087A						.						110.0	119.0	116.0					6																	12163624		2086	4215	6301	SO:0001583	missense	3096	exon9			CAGAAGCAGCAAA	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7087C>A	6.37:g.12163624C>A	ENSP00000368698:p.Gln2363Lys	79	0		93	20	NM_002114	0	0	7	10	3	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421338	0.42918	.	.	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.30448	3.05;1.53	5.76	5.76	0.90799	.	0.608641	0.12470	N	0.466041	T	0.14141	0.0342	L	0.47716	1.5	0.38030	D	0.935143	B	0.31026	0.304	B	0.26693	0.072	T	0.03017	-1.1082	10	0.18710	T	0.47	-2.1358	13.2115	0.59828	0.0:0.9277:0.0:0.0723	.	2363	P15822	ZEP1_HUMAN	K	2363;228;345	ENSP00000368698:Q2363K;ENSP00000445617:Q228K	ENSP00000368698:Q2363K	Q	+	1	0	HIVEP1	12271610	0.868000	0.29978	0.906000	0.35671	0.343000	0.28985	2.133000	0.42093	2.706000	0.92434	0.655000	0.94253	CAG	.		0.542	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114	
NRSN1	140767	ucsc.edu	37	6	24145937	24145937	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:24145937G>T	ENST00000378491.4	+	4	652	c.351G>T	c.(349-351)ctG>ctT	p.L117L		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TGTACAAGCTGGCAGGAGCTG	0.502																																					p.L117L		.											.	NRSN1-90	0			c.G351T						.						96.0	85.0	89.0					6																	24145937		2203	4300	6503	SO:0001819	synonymous_variant	140767	exon4			CAAGCTGGCAGGA	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.351G>T	6.37:g.24145937G>T		128	3		129	14	NM_080723	0	0	0	0	0		Silent	SNP	ENST00000378491.4	37	CCDS4549.1																																																																																			.		0.502	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723	
OR2W1	26692	broad.mit.edu	37	6	29012545	29012545	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:29012545C>A	ENST00000377175.1	-	1	472	c.408G>T	c.(406-408)atG>atT	p.M136I		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GATGTGGGTTCATGACTACAA	0.393																																					p.M136I		.											.	OR2W1-93	0			c.G408T						.						96.0	88.0	91.0					6																	29012545		1511	2709	4220	SO:0001583	missense	26692	exon1			TGGGTTCATGACT	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.408G>T	6.37:g.29012545C>A	ENSP00000366380:p.Met136Ile	65	1		68	4	NM_030903	0	0	0	0	0	B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	C	9.484	1.098793	0.20552	.	.	ENSG00000204704	ENST00000377175	T	0.00551	6.65	4.79	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.094062	0.47093	N	0.000245	T	0.00552	0.0018	M	0.91196	3.185	0.37136	D	0.901485	B	0.31503	0.326	B	0.30251	0.113	T	0.37911	-0.9685	10	0.56958	D	0.05	.	13.1512	0.59490	0.0:0.8382:0.1618:0.0	.	136	Q9Y3N9	OR2W1_HUMAN	I	136	ENSP00000366380:M136I	ENSP00000366380:M136I	M	-	3	0	OR2W1	29120524	0.931000	0.31567	0.970000	0.41538	0.124000	0.20399	1.843000	0.39259	2.175000	0.68902	0.591000	0.81541	ATG	.		0.393	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2		
OR2H1	26716	ucsc.edu;bcgsc.ca	37	6	29429993	29429993	+	Missense_Mutation	SNP	G	G	T	rs139057187	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:29429993G>T	ENST00000377136.1	+	4	912	c.447G>T	c.(445-447)atG>atT	p.M149I	OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377132.1_Missense_Mutation_p.M149I|OR2H1_ENST00000377133.1_Missense_Mutation_p.M149I|OR2H1_ENST00000442615.1_Missense_Mutation_p.M149I|OR2H1_ENST00000396792.2_Missense_Mutation_p.M149I			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						CCTGGGTTATGAGTCTGGTTC	0.562																																					p.M149I		.											.	OR2H1-90	0			c.G447T						.						188.0	191.0	190.0					6																	29429993		1511	2709	4220	SO:0001583	missense	26716	exon3			GGTTATGAGTCTG	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"""GPCR / Class A : Olfactory receptors"""	8252	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily H, member 8"""	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.447G>T	6.37:g.29429993G>T	ENSP00000366340:p.Met149Ile	130	2		172	43	NM_030883	0	0	0	0	0	B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	CCDS4660.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.499292	0.00157	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.00342	8.03;8.03;8.03;8.03;8.03	2.81	-5.63	0.02474	GPCR, rhodopsin-like superfamily (1);	0.545934	0.15392	N	0.264753	T	0.00012	0.0000	N	0.01482	-0.84	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.28202	-1.0051	10	0.29301	T	0.29	.	4.1408	0.10193	0.167:0.0837:0.1349:0.6143	.	149	Q9GZK4	OR2H1_HUMAN	I	149	ENSP00000366340:M149I;ENSP00000366337:M149I;ENSP00000393254:M149I;ENSP00000366336:M149I;ENSP00000380010:M149I	ENSP00000366336:M149I	M	+	3	0	OR2H1	29537972	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.854000	0.00350	-3.341000	0.00183	-3.262000	0.00049	ATG	G|0.999;A|0.001		0.562	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3		
GABBR1	2550	broad.mit.edu;bcgsc.ca	37	6	29591685	29591685	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:29591685C>A	ENST00000377034.4	-	7	1109	c.774G>T	c.(772-774)agG>agT	p.R258S	GABBR1_ENST00000377016.4_Missense_Mutation_p.R196S|GABBR1_ENST00000355973.3_Missense_Mutation_p.R141S|GABBR1_ENST00000376977.3_Missense_Mutation_p.R258S|GABBR1_ENST00000377012.4_Missense_Mutation_p.R141S	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	258					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GGTTCCACATCCTAGCAGCCT	0.527																																					p.R258S		.											.	GABBR1-521	0			c.G774T						.						118.0	92.0	101.0					6																	29591685		1511	2709	4220	SO:0001583	missense	2550	exon7			CCACATCCTAGCA	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.774G>T	6.37:g.29591685C>A	ENSP00000366233:p.Arg258Ser	172	0		214	7	NM_001470	0	0	4	4	0	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	-	12.28	1.891055	0.33348	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	4.31	3.42	0.39159	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.78635	0.4314	L	0.39020	1.185	0.51767	D	0.999933	P;D;D;D	0.69078	0.917;0.997;0.997;0.997	P;D;D;D	0.80764	0.693;0.993;0.994;0.994	T	0.80030	-0.1553	10	0.62326	D	0.03	-12.4038	5.2076	0.15299	0.206:0.6898:0.0:0.1042	.	258;196;258;141	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	S	141;258;196;141;258	ENSP00000348248:R141S;ENSP00000366176:R258S;ENSP00000366215:R196S;ENSP00000366211:R141S;ENSP00000366233:R258S	ENSP00000348248:R141S	R	-	3	2	GABBR1	29699664	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	0.746000	0.26275	1.035000	0.39972	-0.357000	0.07601	AGG	.		0.527	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3		
RNF39	80352	hgsc.bcm.edu	37	6	30039364	30039364	+	Missense_Mutation	SNP	C	C	A	rs11753382	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:30039364C>A	ENST00000244360.6	-	4	884	c.787G>T	c.(787-789)Ggc>Tgc	p.G263C	RNF39_ENST00000376751.3_Missense_Mutation_p.G263C	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	263	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										CGCTTGGGGCCGTCAGGGGGC	0.741													c|||	749	0.149561	0.2489	0.134	5008	,	,		10967	0.1528		0.0447	False		,,,				2504	0.1309				p.G263C	NSCLC(8;188 360 1520 20207 31481)	.											.	RNF39-226	0			c.G787T						.		CYS/GLY,CYS/GLY	414,2026		21,372,827	3.0	2.0	2.0		787,787	0.5	0.1	6	dbSNP_120	2	229,4029		6,217,1906	yes	missense,missense	RNF39	NM_025236.3,NM_170769.2	159,159	27,589,2733	AA,AC,CC		5.3781,16.9672,9.5999	benign,benign	263/421,263/355	30039364	643,6055	1220	2129	3349	SO:0001583	missense	80352	exon4			TGGGGCCGTCAGG	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"""RING-type (C3HC4) zinc fingers"""	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.787G>T	6.37:g.30039364C>A	ENSP00000244360:p.Gly263Cys	0	0		17	13	NM_025236	0	0	6	6	0	A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	CCDS4673.1	299	0.13690476190476192	120	0.24390243902439024	56	0.15469613259668508	90	0.15734265734265734	33	0.04353562005277045	c	11.55	1.672102	0.29693	0.169672	0.053781	ENSG00000204618	ENST00000376751;ENST00000244360	T;T	0.10382	2.88;2.88	4.7	0.543	0.17179	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.296117	0.23738	N	0.045041	T	0.03348	0.0097	N	0.19112	0.55	0.48696	P	3.009999999999957E-4	B;P	0.48407	0.06;0.91	B;P	0.47626	0.092;0.552	T	0.41305	-0.9516	9	0.56958	D	0.05	-19.3451	7.7639	0.28968	0.0:0.4441:0.0:0.5559	rs11753382	263;263	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	C	263	ENSP00000365942:G263C;ENSP00000244360:G263C	ENSP00000244360:G263C	G	-	1	0	RNF39	30147343	0.003000	0.15002	0.059000	0.19551	0.050000	0.14768	0.158000	0.16422	-0.104000	0.12154	0.466000	0.42574	GGC	C|0.862;A|0.138		0.741	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769	
ABCF1	23	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	30552279	30552279	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:30552279G>T	ENST00000326195.8	+	14	1439	c.1327G>T	c.(1327-1329)Gaa>Taa	p.E443*	ABCF1_ENST00000376545.3_Nonsense_Mutation_p.E405*|MIR877_ENST00000401282.1_RNA|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	443	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CTTTGACCCTGAAATGCAGAA	0.632																																					p.E443X		.											.	ABCF1-92	0			c.G1327T						.						80.0	74.0	77.0					6																	30552279		1510	2707	4217	SO:0001587	stop_gained	23	exon14			GACCCTGAAATGC	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1327G>T	6.37:g.30552279G>T	ENSP00000313603:p.Glu443*	79	0		79	9	NM_001025091	0	0	36	36	0	A2BF75|O14897|Q69YP6	Nonsense_Mutation	SNP	ENST00000326195.8	37	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	G	39	7.452311	0.98292	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943	.	.	.	5.12	4.25	0.50352	.	0.152557	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-20.8307	12.495	0.55923	0.0818:0.0:0.9182:0.0	.	.	.	.	X	443;405;422	.	ENSP00000313603:E443X	E	+	1	0	ABCF1	30660258	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.216000	0.95154	1.405000	0.46838	0.462000	0.41574	GAA	.		0.632	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3		
EHMT2	10919	broad.mit.edu;ucsc.edu	37	6	31856281	31856281	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:31856281C>A	ENST00000375537.4	-	12	1374	c.1368G>T	c.(1366-1368)ctG>ctT	p.L456L	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000395728.3_Silent_p.L513L|EHMT2_ENST00000375528.4_Silent_p.L479L|EHMT2_ENST00000375530.4_Silent_p.L422L	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	456					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TGCAGCCTGACAGCTGTGCGC	0.677																																					p.L456L		.											.	EHMT2-91	0			c.G1368T						.						32.0	30.0	30.0					6																	31856281		1511	2709	4220	SO:0001819	synonymous_variant	10919	exon12			GCCTGACAGCTGT	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.1368G>T	6.37:g.31856281C>A		68	1		119	14	NM_006709	0	0	0	0	0	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	37	CCDS4725.1																																																																																			.		0.677	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709	
CFB	629	broad.mit.edu	37	6	31917321	31917321	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:31917321C>A	ENST00000425368.2	+	10	1908	c.1395C>A	c.(1393-1395)ttC>ttA	p.F465L	CFB_ENST00000477310.1_Missense_Mutation_p.F816L|CFB_ENST00000456570.1_Missense_Mutation_p.F967L|CFB_ENST00000556679.1_Missense_Mutation_p.F967L|CFB_ENST00000497841.1_3'UTR	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	465	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AAGATGTTTTCTACCAAATGA	0.413																																					p.F465L		.											.	CFB-91	0			c.C1395A						.						55.0	56.0	56.0					6																	31917321		1511	2709	4220	SO:0001583	missense	629	exon10			TGTTTTCTACCAA	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1395C>A	6.37:g.31917321C>A	ENSP00000416561:p.Phe465Leu	50	2		75	5	NM_001710	0	0	0	0	0	B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	CCDS4729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.21|19.21	3.783072|3.783072	0.70222|0.70222	.|.	.|.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255|ENSG00000243649	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310|ENST00000483004	T;T;T;T|.	0.77877|.	-1.13;-1.13;-1.13;-1.13|.	5.95|5.95	4.96|4.96	0.65561|0.65561	von Willebrand factor, type A (3);|.	0.000000|.	0.64402|.	D|.	0.000018|.	T|T	0.53932|0.53932	0.1827|0.1827	M|M	0.72353|0.72353	2.195|2.195	0.48395|0.48395	D|D	0.999647|0.999647	D;D;D|.	0.65815|.	0.989;0.995;0.992|.	D;D;P|.	0.63113|.	0.911;0.909;0.752|.	T|T	0.58148|0.58148	-0.7687|-0.7687	10|5	0.52906|.	T|.	0.07|.	-31.6205|-31.6205	8.9472|8.9472	0.35767|0.35767	0.0:0.8736:0.0:0.1264|0.0:0.8736:0.0:0.1264	.|.	967;465;465|.	B4E1Z4;P00751;P00751-2|.	.;CFAB_HUMAN;.|.	L|Y	967;465;967;816|78	ENSP00000451848:F967L;ENSP00000416561:F465L;ENSP00000410815:F967L;ENSP00000418996:F816L|.	ENSP00000416561:F465L|.	F|S	+|+	3|2	2|0	CFB;XXbac-BPG116M5.17|CFB	32025300|32025300	0.577000|0.577000	0.26708|0.26708	0.825000|0.825000	0.32803|0.32803	0.835000|0.835000	0.47333|0.47333	0.765000|0.765000	0.26546|0.26546	1.270000|1.270000	0.44297|0.44297	0.655000|0.655000	0.94253|0.94253	TTC|TCT	.		0.413	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710	
PSMB9	5698	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	32825820	32825820	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:32825820C>A	ENST00000374859.2	+	4	368	c.299C>A	c.(298-300)gCa>gAa	p.A100E	PSMB9_ENST00000395330.1_Missense_Mutation_p.A77E|PSMB9_ENST00000453265.2_Missense_Mutation_p.A56E	NM_002800.4	NP_002791.1	P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	100					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			large_intestine(4)|lung(4)|skin(1)	9					Carfilzomib(DB08889)	TTGGCTGCTGCAAATGTGGTG	0.423																																					p.A100E		.											.	PSMB9-90	0			c.C299A						.						110.0	112.0	111.0					6																	32825820		1510	2709	4219	SO:0001583	missense	5698	exon4			CTGCTGCAAATGT		CCDS4759.1	6p21.3	2013-03-27	2013-03-27		ENSG00000240065	ENSG00000240065		"""Proteasome (prosome, macropain) subunits"""	9546	protein-coding gene	gene with protein product		177045	"""proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2)"", ""large multifunctional peptidase 2"""	LMP2		1922385, 1529427	Standard	NM_002800		Approved	RING12, beta1i, PSMB6i	uc003sga.3	P28065	OTTHUMG00000031287	ENST00000374859.2:c.299C>A	6.37:g.32825820C>A	ENSP00000363993:p.Ala100Glu	132	1		193	50	NM_002800	0	0	36	47	11	B0V0T1|Q16523|Q5JNW4	Missense_Mutation	SNP	ENST00000374859.2	37	CCDS4759.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457087	0.84317	.	.	ENSG00000240065	ENST00000395330;ENST00000414474;ENST00000374859;ENST00000453265;ENST00000395333	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.0	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.66858	0.2832	H	0.94503	3.545	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.74538	-0.3632	10	0.87932	D	0	-14.8072	11.6979	0.51554	0.0:0.911:0.0:0.089	.	56;100	B4DZW2;P28065	.;PSB9_HUMAN	E	77;77;100;56;56	ENSP00000378739:A77E;ENSP00000394363:A77E;ENSP00000363993:A100E;ENSP00000394773:A56E	ENSP00000363993:A100E	A	+	2	0	PSMB9	32933798	1.000000	0.71417	0.952000	0.39060	0.971000	0.66376	4.984000	0.63838	2.619000	0.88677	0.638000	0.83543	GCA	.		0.423	PSMB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076624.5	NM_002800	
ITPR3	3710	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	33630346	33630346	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:33630346C>A	ENST00000374316.5	+	9	1813	c.753C>A	c.(751-753)ttC>ttA	p.F251L	ITPR3_ENST00000605930.1_Missense_Mutation_p.F251L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	251	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	AGGAGAAGTTCCTGACGTGTG	0.637																																					p.F251L		.											.	ITPR3-1085	0			c.C753A						.						98.0	72.0	81.0					6																	33630346		2203	4299	6502	SO:0001583	missense	3710	exon8			GAAGTTCCTGACG	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.753C>A	6.37:g.33630346C>A	ENSP00000363435:p.Phe251Leu	73	1		107	50	NM_002224	0	0	1	1	0	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121282	0.56613	.	.	ENSG00000096433	ENST00000374316	D	0.87571	-2.27	5.61	2.4	0.29515	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	M	0.89414	3.03	0.46521	D	0.999089	D	0.89917	1.0	D	0.87578	0.998	D	0.89887	0.4034	10	0.87932	D	0	-32.779	6.1372	0.20239	0.1363:0.5946:0.0:0.2691	.	251	Q14573	ITPR3_HUMAN	L	251	ENSP00000363435:F251L	ENSP00000363435:F251L	F	+	3	2	ITPR3	33738324	0.999000	0.42202	1.000000	0.80357	0.264000	0.26372	0.621000	0.24418	0.723000	0.32274	-0.823000	0.03104	TTC	.		0.637	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
BTBD9	114781	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	38561778	38561778	+	Nonsense_Mutation	SNP	C	C	A	rs564182469		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:38561778C>A	ENST00000481247.1	-	3	662	c.511G>T	c.(511-513)Gaa>Taa	p.E171*	BTBD9_ENST00000408958.1_Nonsense_Mutation_p.E103*|BTBD9_ENST00000314100.6_Nonsense_Mutation_p.E103*|BTBD9_ENST00000419706.2_Nonsense_Mutation_p.E112*|BTBD9_ENST00000403056.1_Nonsense_Mutation_p.E171*	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	171	BACK.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GAGAGGACTTCCTGAGCATTC	0.378																																					p.E171X		.											.	BTBD9-226	0			c.G511T						.						170.0	167.0	168.0					6																	38561778		1913	4134	6047	SO:0001587	stop_gained	114781	exon4			GGACTTCCTGAGC		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.511G>T	6.37:g.38561778C>A	ENSP00000418751:p.Glu171*	134	0		187	34	NM_052893	0	0	1	1	0	Q494V9|Q494W1|Q96M00	Nonsense_Mutation	SNP	ENST00000481247.1	37	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	C	38	7.082492	0.98051	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958;ENST00000497373	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.0822	0.97779	0.0:1.0:0.0:0.0	.	.	.	.	X	103;171;112;171;103;103	.	ENSP00000323408:E103X	E	-	1	0	BTBD9	38669756	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.729000	0.84864	2.826000	0.97356	0.563000	0.77884	GAA	.		0.378	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733	
DNAH8	1769	broad.mit.edu;bcgsc.ca	37	6	38800136	38800136	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:38800136G>T	ENST00000359357.3	+	29	3830	c.3576G>T	c.(3574-3576)aaG>aaT	p.K1192N	DNAH8_ENST00000449981.2_Missense_Mutation_p.K1409N|DNAH8_ENST00000441566.1_Missense_Mutation_p.K1192N			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1192					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCAGCCAAAGTTTAAAAGCA	0.323																																					p.K1409N		.											.	DNAH8-615	0			c.G4227T						.						121.0	112.0	115.0					6																	38800136		2203	4300	6503	SO:0001583	missense	1769	exon31			GCCAAAGTTTAAA	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3576G>T	6.37:g.38800136G>T	ENSP00000352312:p.Lys1192Asn	173	0		222	8	NM_001206927	0	0	0	0	0	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	10.56	1.383776	0.25031	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.26660	1.74;1.73;1.72	5.41	-2.98	0.05513	.	0.371588	0.29853	N	0.011024	T	0.04679	0.0127	L	0.29908	0.895	0.35996	D	0.837034	B	0.10296	0.003	B	0.10450	0.005	T	0.33445	-0.9868	10	0.16896	T	0.51	.	6.9503	0.24542	0.5182:0.2176:0.2642:0.0	.	1192	Q96JB1	DYH8_HUMAN	N	1397;1397;1192;1192	ENSP00000333363:K1397N;ENSP00000352312:K1192N;ENSP00000402294:K1192N	ENSP00000333363:K1397N	K	+	3	2	DNAH8	38908114	0.970000	0.33590	0.878000	0.34440	0.961000	0.63080	0.029000	0.13666	-0.449000	0.07117	0.563000	0.77884	AAG	.		0.323	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
KCNK17	89822	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	39271826	39271826	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:39271826G>T	ENST00000373231.4	-	4	827	c.595C>A	c.(595-597)Ctc>Atc	p.L199I	KCNK17_ENST00000453413.2_Missense_Mutation_p.L199I	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	199					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						TGGGAGAAGAGCAGCGGTGGC	0.632																																					p.L199I		.											.	KCNK17-227	0			c.C595A						.						74.0	75.0	75.0					6																	39271826		2203	4300	6503	SO:0001583	missense	89822	exon4			AGAAGAGCAGCGG	AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.595C>A	6.37:g.39271826G>T	ENSP00000362328:p.Leu199Ile	122	2		153	42	NM_001135111	0	0	0	0	0	E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	CCDS4842.1	.	.	.	.	.	.	.	.	.	.	G	9.235	1.036710	0.19669	.	.	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.28069	1.8;1.63	4.21	3.33	0.38152	Ion transport 2 (1);	0.136537	0.29280	N	0.012609	T	0.08980	0.0222	N	0.11560	0.145	0.28908	N	0.892884	B;P	0.46395	0.379;0.877	P;P	0.51016	0.45;0.656	T	0.10800	-1.0614	10	0.19147	T	0.46	.	6.9647	0.24617	0.0945:0.0:0.7302:0.1753	.	199;199	E9PB46;Q96T54	.;KCNKH_HUMAN	I	199	ENSP00000362328:L199I;ENSP00000401271:L199I	ENSP00000362328:L199I	L	-	1	0	KCNK17	39379804	0.563000	0.26594	0.996000	0.52242	0.288000	0.27193	0.693000	0.25497	0.942000	0.37525	0.561000	0.74099	CTC	.		0.632	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460	
PRPH2	5961	broad.mit.edu;ucsc.edu	37	6	42689604	42689604	+	Missense_Mutation	SNP	C	C	A	rs61755787		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:42689604C>A	ENST00000230381.5	-	1	708	c.469G>T	c.(469-471)Gac>Tac	p.D157Y		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	157			D -> N (in PDREP).		cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.D157N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGCAGCATGTCGATGGTCTTC	0.537																																					p.D157Y		.											.	PRPH2-94	1	Substitution - Missense(1)	large_intestine(1)	c.G469T	GRCh37	CM951117	PRPH2	M	rs61755787	.						127.0	113.0	117.0					6																	42689604		2203	4300	6503	SO:0001583	missense	5961	exon1			GCATGTCGATGGT		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.469G>T	6.37:g.42689604C>A	ENSP00000230381:p.Asp157Tyr	148	2		204	21	NM_000322	0	0	0	0	0	Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899006	0.91962	.	.	ENSG00000112619	ENST00000230381	D	0.81908	-1.55	5.78	5.78	0.91487	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.92766	0.7700	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92999	0.6421	10	0.87932	D	0	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	157	P23942	PRPH2_HUMAN	Y	157	ENSP00000230381:D157Y	ENSP00000230381:D157Y	D	-	1	0	PRPH2	42797582	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.708000	0.84633	2.894000	0.99253	0.655000	0.94253	GAC	.		0.537	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322	
CNPY3	10695	broad.mit.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	TGC	-	rs570105218	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:42897358_42897360delTGC	ENST00000372836.4	+	1	421_423	c.50_52delTGC	c.(49-54)ttgctg>ttg	p.17_18LL>L	CNPY3_ENST00000394142.3_In_Frame_Del_p.17_18LL>L	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	17					innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)		p.L25delL(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.695																																					p.17_18del		.											.	CNPY3-69	1	Deletion - In frame(1)	central_nervous_system(1)	c.50_52del						.																																			SO:0001651	inframe_deletion	10695	exon1			TTCCCTTGCTGCT	U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"""Trinucleotide (CAG) repeat containing"""	11968	protein-coding gene	gene with protein product		610774	"""trinucleotide repeat containing 5"", ""canopy 3 homolog (zebrafish)"""	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.50_52delTGC	6.37:g.42897367_42897369delTGC	ENSP00000361926:p.Leu25del	14	0		106	8	NM_006586	0	0	0	0	0	O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	In_Frame_Del	DEL	ENST00000372836.4	37	CCDS4875.1																																																																																			.		0.695	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040564.1	NM_006586	
PPP2R5D	5528	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	42957364	42957364	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:42957364G>T	ENST00000485511.1	+	2	222	c.43G>T	c.(43-45)Gcc>Tcc	p.A15S	PPP2R5D_ENST00000394110.3_Missense_Mutation_p.A15S|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.A15S|PPP2R5D_ENST00000461010.1_Intron	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	15					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCCAAGGTTGCCAAATGCAC	0.507																																					p.A15S	Melanoma(63;587 1613 29742 31770)	.											.	PPP2R5D-1082	0			c.G43T						.						60.0	56.0	57.0					6																	42957364		2203	4300	6503	SO:0001583	missense	5528	exon2			AAGGTTGCCAAAT	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.43G>T	6.37:g.42957364G>T	ENSP00000417963:p.Ala15Ser	57	0		81	12	NM_180976	0	0	8	10	2	A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	ENST00000485511.1	37	CCDS4878.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364106	0.61513	.	.	ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610	T;T;T	0.53206	0.88;0.63;0.8	5.93	5.93	0.95920	.	5.009890	0.00541	N	0.000232	T	0.45196	0.1330	N	0.14661	0.345	0.80722	D	1	B;D	0.55605	0.083;0.972	B;P	0.59948	0.018;0.866	T	0.29088	-1.0023	10	0.49607	T	0.09	-17.5886	15.854	0.78960	0.0:0.0:1.0:0.0	.	15;15	Q14738;Q14738-2	2A5D_HUMAN;.	S	15	ENSP00000417963:A15S;ENSP00000377669:A15S;ENSP00000420550:A15S	ENSP00000230402:A15S	A	+	1	0	PPP2R5D	43065342	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.760000	0.62235	2.826000	0.97356	0.655000	0.94253	GCC	.		0.507	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245	
CYP39A1	51302	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	46607338	46607338	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:46607338C>A	ENST00000275016.2	-	3	584	c.381G>T	c.(379-381)atG>atT	p.M127I		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	127					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TGACAGTCCCCATTTTCCCTT	0.363																																					p.M127I		.											.	CYP39A1-91	0			c.G381T						.						113.0	104.0	107.0					6																	46607338		2203	4300	6503	SO:0001583	missense	51302	exon3			AGTCCCCATTTTC	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.381G>T	6.37:g.46607338C>A	ENSP00000275016:p.Met127Ile	109	0		121	35	NM_016593	0	0	0	0	0	Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034227	0.35893	.	.	ENSG00000146233	ENST00000275016	D	0.84298	-1.83	5.55	-0.459	0.12179	.	0.546552	0.21080	N	0.080508	T	0.56717	0.2004	L	0.34521	1.04	0.30118	N	0.805978	B;B	0.14438	0.01;0.01	B;B	0.16289	0.015;0.015	T	0.43212	-0.9405	10	0.59425	D	0.04	-0.331	4.96	0.14061	0.2923:0.5202:0.0:0.1876	.	107;127	B7Z786;Q9NYL5	.;CP39A_HUMAN	I	127	ENSP00000275016:M127I	ENSP00000275016:M127I	M	-	3	0	CYP39A1	46715297	0.038000	0.19896	0.887000	0.34795	0.932000	0.56968	0.160000	0.16462	-0.347000	0.08299	-0.225000	0.12378	ATG	.		0.363	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1		
OPN5	221391	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	47754293	47754293	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:47754293C>A	ENST00000371211.2	+	2	201	c.173C>A	c.(172-174)tCt>tAt	p.S58Y	OPN5_ENST00000393699.2_Missense_Mutation_p.S58Y|OPN5_ENST00000489301.2_Missense_Mutation_p.S58Y	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	58					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CTTTACATGTCTTCTAGACGA	0.373																																					p.S58Y	Melanoma(28;740 973 10870 42660 45347)	.											.	OPN5-69	0			c.C173A						.						138.0	128.0	132.0					6																	47754293		2203	4300	6503	SO:0001583	missense	221391	exon2			ACATGTCTTCTAG	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.173C>A	6.37:g.47754293C>A	ENSP00000360255:p.Ser58Tyr	98	0		119	15	NM_181744	0	0	0	0	0	A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.068983	0.55539	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.36699	1.24;1.24;1.24	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.094446	0.85682	D	0.000000	T	0.16854	0.0405	N	0.15975	0.35	0.53688	D	0.999972	B	0.27997	0.197	B	0.26310	0.068	T	0.06023	-1.0850	10	0.59425	D	0.04	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	58	Q6U736	OPN5_HUMAN	Y	58	ENSP00000426991:S58Y;ENSP00000360255:S58Y;ENSP00000377302:S58Y	ENSP00000360255:S58Y	S	+	2	0	OPN5	47862252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.155000	0.77445	2.836000	0.97738	0.655000	0.94253	TCT	.		0.373	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744	
GLYATL3	389396	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	49485158	49485158	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:49485158C>A	ENST00000371197.4	+	4	315	c.202C>A	c.(202-204)Ctt>Att	p.L68I		NM_001010904.1	NP_001010904.1	Q5SZD4	GLYL3_HUMAN	glycine-N-acyltransferase-like 3	68						mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(3)|lung(1)|skin(3)|stomach(2)	11						GACAGATAACCTTGATCATTA	0.373																																					p.L68I		.											.	.	0			c.C202A						.						217.0	174.0	187.0					6																	49485158		692	1591	2283	SO:0001583	missense	389396	exon4			GATAACCTTGATC		CCDS47440.1	6p12.3	2009-12-14	2009-12-14	2009-12-14	ENSG00000203972	ENSG00000203972			21349	protein-coding gene	gene with protein product		614763	"""chromosome 6 open reading frame 140"""	C6orf140			Standard	NM_001010904		Approved	bA28H17.2	uc003ozi.3	Q5SZD4	OTTHUMG00000014818	ENST00000371197.4:c.202C>A	6.37:g.49485158C>A	ENSP00000360240:p.Leu68Ile	118	0		149	12	NM_001010904	0	0	0	0	0		Missense_Mutation	SNP	ENST00000371197.4	37	CCDS47440.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604839	0.46423	.	.	ENSG00000203972	ENST00000371197;ENST00000545705	T;T	0.18338	2.22;2.22	6.01	1.28	0.21552	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	.	.	.	.	T	0.10508	0.0257	M	0.82517	2.595	0.24539	N	0.994077	P	0.41475	0.751	B	0.42827	0.399	T	0.19160	-1.0314	9	0.26408	T	0.33	-1.9036	7.5118	0.27577	0.0:0.5771:0.0:0.4229	.	68	Q5SZD4	GLYL3_HUMAN	I	68	ENSP00000360240:L68I;ENSP00000440029:L68I	ENSP00000360240:L68I	L	+	1	0	GLYATL3	49593117	0.857000	0.29778	0.998000	0.56505	0.989000	0.77384	-0.077000	0.11394	0.152000	0.19188	0.655000	0.94253	CTT	.		0.373	GLYATL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040866.3	NM_001010904	
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	51612798	51612798	+	Missense_Mutation	SNP	C	C	A	rs141507554		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:51612798C>A	ENST00000371117.3	-	58	9891	c.9616G>T	c.(9616-9618)Gtg>Ttg	p.V3206L	PKHD1_ENST00000340994.4_Missense_Mutation_p.V3206L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3206					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGGTGGCCACAATGACTGAA	0.443																																					p.V3206L		.											.	PKHD1-603	0			c.G9616T						.	C	LEU/VAL,LEU/VAL	0,4406		0,0,2203	112.0	116.0	115.0		9616,9616	4.0	1.0	6	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PKHD1	NM_138694.3,NM_170724.2	32,32	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign,benign	3206/4075,3206/3397	51612798	1,13005	2203	4300	6503	SO:0001583	missense	5314	exon58			TGGCCACAATGAC	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9616G>T	6.37:g.51612798C>A	ENSP00000360158:p.Val3206Leu	127	0		178	22	NM_170724	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631993	0.46944	0.0	1.16E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89343	-2.34;-2.5	5.75	3.99	0.46301	.	0.300783	0.28683	N	0.014488	T	0.82259	0.4998	M	0.77103	2.36	0.29108	N	0.881033	B;P;B	0.37352	0.214;0.591;0.214	B;B;B	0.36766	0.087;0.232;0.087	T	0.77040	-0.2735	10	0.62326	D	0.03	.	11.5084	0.50481	0.0:0.856:0.0:0.144	.	3206;3206;3206	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	L	3206	ENSP00000360158:V3206L;ENSP00000341097:V3206L	ENSP00000341097:V3206L	V	-	1	0	PKHD1	51720757	0.986000	0.35501	0.993000	0.49108	0.833000	0.47200	1.896000	0.39789	0.795000	0.33922	0.655000	0.94253	GTG	C|1.000;A|0.000		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
ELOVL5	60481	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	53139932	53139932	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:53139932A>T	ENST00000542638.1	-	5	899	c.452T>A	c.(451-453)cTg>cAg	p.L151Q	ELOVL5_ENST00000486973.1_5'Flank|ELOVL5_ENST00000541407.1_Missense_Mutation_p.L178Q|ELOVL5_ENST00000304434.6_Missense_Mutation_p.L151Q|MIR5685_ENST00000579080.1_RNA|ELOVL5_ENST00000370918.4_Missense_Mutation_p.L141Q			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	151					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					CCAGATGTTCAGCATCGAGGC	0.507																																					p.L178Q		.											.	ELOVL5-90	0			c.T533A						.						132.0	105.0	114.0					6																	53139932		2203	4300	6503	SO:0001583	missense	60481	exon6			ATGTTCAGCATCG	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.452T>A	6.37:g.53139932A>T	ENSP00000440728:p.Leu151Gln	187	2		234	32	NM_001242828	0	0	82	92	10	B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Missense_Mutation	SNP	ENST00000542638.1	37	CCDS4951.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.771804	0.90108	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	6.17	6.17	0.99709	.	0.120157	0.64402	D	0.000019	T	0.54951	0.1890	H	0.94503	3.545	0.80722	D	1	D;P;P	0.55385	0.971;0.537;0.845	P;P;D	0.63793	0.847;0.797;0.918	T	0.67413	-0.5677	10	0.56958	D	0.05	-5.0027	16.8222	0.85835	1.0:0.0:0.0:0.0	.	178;151;151	F6SH78;B3KWH9;Q9NYP7	.;.;ELOV5_HUMAN	Q	141;151;151;178	ENSP00000359956:L141Q;ENSP00000306640:L151Q;ENSP00000440728:L151Q;ENSP00000438095:L178Q	ENSP00000306640:L151Q	L	-	2	0	ELOVL5	53247891	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.316000	0.72857	2.371000	0.80710	0.533000	0.62120	CTG	.		0.507	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814	
TINAG	27283	bcgsc.ca;mdanderson.org	37	6	54172881	54172881	+	5'Flank	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:54172881C>A	ENST00000259782.4	+	0	0				TINAG_ENST00000370869.3_Missense_Mutation_p.F6L|TINAG_ENST00000370864.3_5'Flank|TINAG_ENST00000486436.1_Intron	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen						cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CCTGGATGTTCGTTTCAATGC	0.428																																					.		.											.	TINAG-93	0			.						.																																			SO:0001631	upstream_gene_variant	27283	.			GATGTTCGTTTCA	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893		6.37:g.54172881C>A	Exception_encountered	78	0		101	24	.	0	0	0	0	0	Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	2.931	-0.221145	0.06061	.	.	ENSG00000137251	ENST00000370869	T	0.23147	1.92	5.97	-3.38	0.04883	.	.	.	.	.	T	0.02193	0.0068	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.42832	-0.9428	6	0.10902	T	0.67	.	2.6996	0.05144	0.3217:0.3737:0.0707:0.2339	.	.	.	.	L	6	ENSP00000359906:F6L	ENSP00000359906:F6L	F	+	3	2	TINAG	54280840	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.121000	0.10643	-0.382000	0.07870	-1.041000	0.02371	TTC	.		0.428	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464	
FAM83B	222584	broad.mit.edu;bcgsc.ca	37	6	54805222	54805222	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:54805222G>T	ENST00000306858.7	+	5	1569	c.1453G>T	c.(1453-1455)Gaa>Taa	p.E485*	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	485										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GCCAACCCTTGAACATACCAC	0.393																																					p.E485X		.											.	FAM83B-96	0			c.G1453T						.						93.0	93.0	93.0					6																	54805222		2203	4300	6503	SO:0001587	stop_gained	222584	exon5			ACCCTTGAACATA	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1453G>T	6.37:g.54805222G>T	ENSP00000304078:p.Glu485*	60	1		57	13	NM_001010872	0	0	0	0	0	Q2M1P3|Q96DQ2	Nonsense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	35	5.504684	0.96371	.	.	ENSG00000168143	ENST00000306858	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-27.0099	19.8898	0.96926	0.0:0.0:1.0:0.0	.	.	.	.	X	485	.	ENSP00000304078:E485X	E	+	1	0	FAM83B	54913181	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.438000	0.80431	2.775000	0.95449	0.655000	0.94253	GAA	.		0.393	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139	
COL21A1	81578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	56033011	56033011	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:56033011C>A	ENST00000244728.5	-	6	1508	c.1111G>T	c.(1111-1113)Gaa>Taa	p.E371*	COL21A1_ENST00000370819.1_Nonsense_Mutation_p.E371*|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.E371*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	371	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GGCTTGTTTTCAATTTGTTGG	0.358																																					p.E371X		.											.	COL21A1-24	0			c.G1111T						.						71.0	63.0	65.0					6																	56033011		1830	4083	5913	SO:0001587	stop_gained	81578	exon6			TGTTTTCAATTTG	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1111G>T	6.37:g.56033011C>A	ENSP00000244728:p.Glu371*	58	0		78	12	NM_030820	0	0	0	0	0	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Nonsense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	39	7.469889	0.98302	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	.	.	.	5.35	3.47	0.39725	.	0.198303	0.32970	N	0.005429	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	11.5779	0.50875	0.0:0.8022:0.1265:0.0713	.	.	.	.	X	371	.	ENSP00000244728:E371X	E	-	1	0	COL21A1	56140970	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	3.838000	0.55828	2.506000	0.84524	0.655000	0.94253	GAA	.		0.358	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		
DST	667	broad.mit.edu;bcgsc.ca	37	6	56569107	56569107	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:56569107G>T	ENST00000361203.3	-	3	221	c.214C>A	c.(214-216)Ctt>Att	p.L72I	DST_ENST00000370769.4_Missense_Mutation_p.L72I|DST_ENST00000370754.5_Missense_Mutation_p.L250I|DST_ENST00000370788.2_Missense_Mutation_p.L72I|DST_ENST00000312431.6_Missense_Mutation_p.L72I|DST_ENST00000421834.2_Missense_Mutation_p.L72I			Q03001	DYST_HUMAN	dystonin	72	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCTCTAAAAGAGAAATCAAA	0.338																																					.		.											.	.	0			.						.						47.0	45.0	46.0					6																	56569107		1804	4053	5857	SO:0001583	missense	100873774	.			CTAAAAGAGAAAT	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.214C>A	6.37:g.56569107G>T	ENSP00000354508:p.Leu72Ile	109	0		163	12	.	0	0	0	0	0	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	RNA	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	G	19.76	3.887725	0.72410	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000421834;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000520645;ENST00000449297;ENST00000522538;ENST00000523817	D;D;D;D;D;D;D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44	5.05	5.05	0.67936	Calponin homology domain (5);	0.000000	0.41605	D	0.000843	D	0.98520	0.9506	M	0.86573	2.825	0.30992	N	0.721312	D;D;D;D;D	0.65815	0.986;0.991;0.991;0.995;0.991	D;D;D;D;D	0.87578	0.992;0.998;0.995;0.998;0.998	D	0.99399	1.0927	9	0.72032	D	0.01	.	16.7615	0.85513	0.0:0.0:1.0:0.0	.	101;72;72;250;72	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001	.;.;.;.;DYST_HUMAN	I	250;72;72;72;72;72;112;250;23;65	ENSP00000359790:L250I;ENSP00000359805:L72I;ENSP00000400883:L72I;ENSP00000307959:L72I;ENSP00000359824:L72I;ENSP00000354508:L72I;ENSP00000431030:L112I;ENSP00000393082:L250I;ENSP00000429075:L23I;ENSP00000429221:L65I	ENSP00000307959:L72I	L	-	1	0	DST	56677066	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.472000	0.73567	2.618000	0.88619	0.561000	0.74099	CTT	.		0.338	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
LGSN	51557	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	63991038	63991038	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:63991038C>A	ENST00000370657.4	-	4	451	c.418G>T	c.(418-420)Gcc>Tcc	p.A140S	LGSN_ENST00000370658.5_Missense_Mutation_p.A140S			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	140					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AAACATGTGGCTCTTATGTTA	0.403																																					p.A140S		.											.	LGSN-227	0			c.G418T						.						128.0	122.0	124.0					6																	63991038		2203	4300	6503	SO:0001583	missense	51557	exon4			ATGTGGCTCTTAT	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.418G>T	6.37:g.63991038C>A	ENSP00000359691:p.Ala140Ser	111	0		126	42	NM_016571	0	0	0	0	0	A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298353	0.23650	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.50548	0.74;0.74	5.57	4.7	0.59300	Glutamine synthetase, beta-Grasp (3);	0.193902	0.56097	D	0.000040	T	0.45538	0.1347	L	0.33753	1.03	0.44825	D	0.997834	D;B	0.65815	0.995;0.283	P;B	0.61658	0.892;0.354	T	0.47824	-0.9087	10	0.72032	D	0.01	-20.1629	13.8362	0.63410	0.0:0.9253:0.0:0.0747	.	140;140	Q5TDP6-2;Q5TDP6	.;LGSN_HUMAN	S	140	ENSP00000359692:A140S;ENSP00000359691:A140S	ENSP00000359691:A140S	A	-	1	0	LGSN	64048997	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	3.599000	0.54045	2.626000	0.88956	0.557000	0.71058	GCC	.		0.403	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571	
EYS	346007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	65301109	65301109	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:65301109C>A	ENST00000370621.3	-	26	5177	c.4651G>T	c.(4651-4653)Gaa>Taa	p.E1551*	EYS_ENST00000503581.1_Nonsense_Mutation_p.E1551*|EYS_ENST00000370616.2_Nonsense_Mutation_p.E1551*			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1551					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGGCTTAATTCTCTTAAAGAA	0.383																																					p.E1551X		.											.	EYS-660	0			c.G4651T						.						53.0	44.0	47.0					6																	65301109		692	1590	2282	SO:0001587	stop_gained	346007	exon26			TTAATTCTCTTAA		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4651G>T	6.37:g.65301109C>A	ENSP00000359655:p.Glu1551*	85	0		117	19	NM_001142800	0	0	0	0	0	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Nonsense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	C	44	10.772904	0.99465	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	.	.	.	5.84	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	10.2146	0.43160	0.0:0.8465:0.0:0.1535	.	.	.	.	X	1551	.	ENSP00000359650:E1551X	E	-	1	0	EYS	65357830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.768000	0.38511	1.486000	0.48398	0.591000	0.81541	GAA	.		0.383	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
COL19A1	1310	bcgsc.ca	37	6	70916977	70916977	+	Nonstop_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:70916977G>T	ENST00000322773.4	+	51	3530	c.3428G>T	c.(3427-3429)tGa>tTa	p.*1143L	COL19A1_ENST00000393344.1_Nonstop_Mutation_p.*765L	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	0					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGTGGGAATTGAACACACCTG	0.517																																					p.X1143L		.											.	COL19A1-156	0			c.G3428T						.						110.0	121.0	117.0					6																	70916977		2203	4300	6503	SO:0001578	stop_lost	1310	exon51			GGAATTGAACACA		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3428G>T	6.37:g.70916977G>T	ENSP00000316030:p.*1143Leuext*49	39	1		50	13	NM_001858	0	0	0	0	0	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292455	0.23564	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	.	.	.	5.79	2.91	0.33838	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4418	0.27187	0.3716:0.0:0.6284:0.0	.	.	.	.	L	1143;765	.	.	X	+	2	2	COL19A1	70973698	1.000000	0.71417	0.058000	0.19502	0.596000	0.36781	1.329000	0.33770	0.702000	0.31825	0.563000	0.77884	TGA	.		0.517	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		
MB21D1	115004	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	74161347	74161347	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:74161347C>A	ENST00000370315.3	-	1	652	c.558G>T	c.(556-558)gtG>gtT	p.V186V	MB21D1_ENST00000370318.1_Silent_p.V186V	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	186	DNA-binding. {ECO:0000305|PubMed:23707061}.				activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						CAACCCCTTTCACCATCCCCG	0.627																																					p.V186V		.											.	MB21D1-90	0			c.G558T						.						27.0	28.0	27.0					6																	74161347		2203	4300	6503	SO:0001819	synonymous_variant	115004	exon1			CCCTTTCACCATC	BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"""chromosome 6 open reading frame 150"""	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.558G>T	6.37:g.74161347C>A		211	0		299	19	NM_138441	0	0	0	0	0	L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Silent	SNP	ENST00000370315.3	37	CCDS4978.1																																																																																			.		0.627	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5	NM_138441	
PRSS35	167681	broad.mit.edu	37	6	84234143	84234143	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:84234143C>A	ENST00000369700.3	+	2	1160	c.983C>A	c.(982-984)tCc>tAc	p.S328Y	PRSS35_ENST00000536636.1_Missense_Mutation_p.S328Y	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	328	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TGCAGTGTGTCCGACGAATCC	0.478																																					p.S328Y		.											.	PRSS35-91	0			c.C983A						.						125.0	124.0	124.0					6																	84234143		2203	4300	6503	SO:0001583	missense	167681	exon2			GTGTGTCCGACGA	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.983C>A	6.37:g.84234143C>A	ENSP00000358714:p.Ser328Tyr	96	2		99	20	NM_153362	0	0	0	0	0	A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989646	0.93106	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.43294	0.95;0.95	5.91	5.91	0.95273	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.171732	0.52532	D	0.000062	T	0.53802	0.1819	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	P	0.57244	0.816	T	0.54227	-0.8325	10	0.62326	D	0.03	-12.8025	20.2946	0.98546	0.0:1.0:0.0:0.0	.	328	Q8N3Z0	PRS35_HUMAN	Y	328	ENSP00000440870:S328Y;ENSP00000358714:S328Y	ENSP00000358714:S328Y	S	+	2	0	PRSS35	84290862	1.000000	0.71417	0.898000	0.35279	0.967000	0.64934	7.487000	0.81328	2.804000	0.96469	0.462000	0.41574	TCC	.		0.478	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362	
SNAP91	9892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	84292059	84292059	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:84292059G>T	ENST00000439399.2	-	23	2347	c.2031C>A	c.(2029-2031)ttC>ttA	p.F677L	SNAP91_ENST00000521743.1_Missense_Mutation_p.F677L|SNAP91_ENST00000520213.1_Missense_Mutation_p.F370L|SNAP91_ENST00000519133.1_5'Flank|SNAP91_ENST00000520302.1_Missense_Mutation_p.F647L|SNAP91_ENST00000195649.6_Missense_Mutation_p.F677L|SNAP91_ENST00000437520.1_Missense_Mutation_p.F370L|SNAP91_ENST00000428679.2_Missense_Mutation_p.F677L|SNAP91_ENST00000369694.2_Missense_Mutation_p.F677L|SNAP91_ENST00000521485.1_Missense_Mutation_p.F677L	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	677					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AAGGCGCCATGAAAGAACCCC	0.418																																					p.F677L		.											.	SNAP91-23	0			c.C2031A						.						56.0	57.0	56.0					6																	84292059		1917	4134	6051	SO:0001583	missense	9892	exon22			CGCCATGAAAGAA	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2031C>A	6.37:g.84292059G>T	ENSP00000400459:p.Phe677Leu	59	0		47	12	NM_001242792	0	0	0	1	1	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770719	0.49680	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448;ENST00000521931	T;T;T;T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;2.49;1.31;1.31;2.49;1.31;1.31	5.43	3.65	0.41850	.	0.488832	0.23943	N	0.043040	T	0.29976	0.0750	L	0.60455	1.87	0.20638	N	0.999878	P;D;D;B;D	0.61080	0.956;0.982;0.989;0.404;0.987	P;D;D;B;P	0.68943	0.899;0.961;0.958;0.205;0.84	T	0.13469	-1.0508	10	0.09590	T	0.72	-8.6011	9.8539	0.41073	0.2389:0.0:0.7611:0.0	.	558;370;647;677;675	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	L	677;677;677;677;677;370;647;677;370;18;490	ENSP00000429776:F677L;ENSP00000358708:F677L;ENSP00000400459:F677L;ENSP00000195649:F677L;ENSP00000412492:F677L;ENSP00000413277:F370L;ENSP00000428511:F647L;ENSP00000428215:F677L;ENSP00000428026:F370L;ENSP00000430255:F18L;ENSP00000430071:F490L	ENSP00000195649:F677L	F	-	3	2	SNAP91	84348778	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.252000	0.32874	0.677000	0.31305	0.561000	0.74099	TTC	.		0.418	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1		
NT5E	4907	ucsc.edu;bcgsc.ca	37	6	86181104	86181104	+	Missense_Mutation	SNP	G	G	A	rs550591725		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:86181104G>A	ENST00000257770.3	+	3	761	c.712G>A	c.(712-714)Gtc>Atc	p.V238I	NT5E_ENST00000369651.3_Missense_Mutation_p.V238I|NT5E_ENST00000369646.3_Missense_Mutation_p.V238I	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	238					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	GGGTGTGGACGTCGTGGTGGG	0.418																																					p.V238I	Melanoma(140;797 1765 2035 2752 18208)	.											.	NT5E-93	0			c.G712A						.						108.0	106.0	107.0					6																	86181104		2203	4300	6503	SO:0001583	missense	4907	exon3			GTGGACGTCGTGG	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.712G>A	6.37:g.86181104G>A	ENSP00000257770:p.Val238Ile	148	2		158	14	NM_001204813	0	0	2	3	1	B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	G	6.552	0.470143	0.12461	.	.	ENSG00000135318	ENST00000369647;ENST00000257770;ENST00000369646;ENST00000369651	D;D;D	0.84730	-1.89;-1.89;-1.89	4.89	3.0	0.34707	Metallophosphoesterase domain (1);	0.112168	0.64402	N	0.000012	T	0.66607	0.2806	L	0.48362	1.52	0.39663	D	0.970642	B;B;B	0.23806	0.028;0.028;0.091	B;B;B	0.24006	0.038;0.05;0.042	T	0.59300	-0.7480	10	0.21540	T	0.41	-9.6163	11.0609	0.47946	0.1606:0.0:0.8394:0.0	.	238;238;238	B3KQI8;P21589;Q96B60	.;5NTD_HUMAN;.	I	14;238;238;238	ENSP00000257770:V238I;ENSP00000358660:V238I;ENSP00000358665:V238I	ENSP00000257770:V238I	V	+	1	0	NT5E	86237823	0.998000	0.40836	0.923000	0.36655	0.993000	0.82548	2.296000	0.43584	0.508000	0.28173	0.561000	0.74099	GTC	.		0.418	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1		
NT5E	4907	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	86195053	86195053	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:86195053C>A	ENST00000257770.3	+	4	901	c.852C>A	c.(850-852)ggC>ggA	p.G284G	NT5E_ENST00000369651.3_Silent_p.G284G	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	284					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	ATGCTTTTGGCAAATACCTAG	0.468																																					p.G284G	Melanoma(140;797 1765 2035 2752 18208)	.											.	NT5E-93	0			c.C852A						.						144.0	124.0	130.0					6																	86195053		2203	4300	6503	SO:0001819	synonymous_variant	4907	exon4			TTTTGGCAAATAC	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.852C>A	6.37:g.86195053C>A		139	1		186	43	NM_001204813	0	0	1	2	1	B3KQI8|O75520|Q5W116	Silent	SNP	ENST00000257770.3	37	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241251	0.22711	.	.	ENSG00000135318	ENST00000416334	.	.	.	5.63	2.5	0.30297	.	.	.	.	.	T	0.56292	0.1975	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56884	-0.7905	4	.	.	.	-11.3411	13.4595	0.61219	0.6931:0.3069:0.0:0.0	.	.	.	.	E	49	.	.	A	+	2	0	NT5E	86251772	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.070000	0.30653	0.693000	0.31634	0.462000	0.41574	GCA	.		0.468	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1		
POU3F2	5454	hgsc.bcm.edu	37	6	99283376	99283376	+	Silent	SNP	T	T	G	rs195860	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:99283376T>G	ENST00000328345.5	+	1	797	c.627T>G	c.(625-627)ggT>ggG	p.G209G		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	209					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		AGCCGGCCGGTCTGCACCACC	0.736													G|||	4460	0.890575	0.8994	0.9121	5008	,	,		6412	0.9544		0.8598	False		,,,				2504	0.8292				p.G209G		.											.	POU3F2-90	0			c.T627G						.	G		3186,306		1453,280,13	4.0	4.0	4.0		627	3.1	1.0	6	dbSNP_79	4	6282,930		2738,806,62	no	coding-synonymous	POU3F2	NM_005604.2		4191,1086,75	GG,GT,TT		12.8952,8.7629,11.5471		209/444	99283376	9468,1236	1746	3606	5352	SO:0001819	synonymous_variant	5454	exon1			GGCCGGTCTGCAC	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.627T>G	6.37:g.99283376T>G		0	0		8	8	NM_005604	0	0	0	0	0	Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	CCDS5040.1																																																																																			T|0.089;G|0.911		0.736	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2		
USP45	85015	bcgsc.ca	37	6	99956553	99956553	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:99956553C>A	ENST00000327681.6	-	3	738	c.206G>T	c.(205-207)aGa>aTa	p.R69I	USP45_ENST00000500704.2_Missense_Mutation_p.R69I|USP45_ENST00000329966.6_Missense_Mutation_p.R69I|USP45_ENST00000369233.2_Missense_Mutation_p.R69I|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000369231.3_Missense_Mutation_p.R69I|USP45_ENST00000369232.2_5'UTR|USP45_ENST00000472914.2_Missense_Mutation_p.R69I	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	69					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ATAGAATCTTCTTTCTTTTAA	0.373																																					p.R69I		.											.	USP45-637	0			c.G206T						.						98.0	94.0	96.0					6																	99956553		2203	4300	6503	SO:0001583	missense	85015	exon3			AATCTTCTTTCTT	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.206G>T	6.37:g.99956553C>A	ENSP00000333376:p.Arg69Ile	98	3		75	24	NM_001080481	0	0	3	3	0	B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	37	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072617	0.93950	.	.	ENSG00000123552	ENST00000500704;ENST00000327681;ENST00000369233;ENST00000329966;ENST00000472914;ENST00000369231	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.35	5.35	0.76521	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (2);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63985	-0.6513	10	0.54805	T	0.06	.	18.6434	0.91402	0.0:1.0:0.0:0.0	.	69;69	D6RBV3;Q70EL2	.;UBP45_HUMAN	I	69	ENSP00000424372:R69I;ENSP00000333376:R69I;ENSP00000358236:R69I;ENSP00000330540:R69I;ENSP00000423993:R69I;ENSP00000358234:R69I	ENSP00000333376:R69I	R	-	2	0	USP45	100063274	1.000000	0.71417	0.996000	0.52242	0.818000	0.46254	5.328000	0.65887	2.518000	0.84900	0.491000	0.48974	AGA	.		0.373	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929	
SIM1	6492	hgsc.bcm.edu;bcgsc.ca	37	6	100898139	100898139	+	Intron	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:100898139C>A	ENST00000369208.3	-	4	1131				SIM1_ENST00000262901.4_Intron			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AACCACTCACCTACCTGAGAA	0.557																																					p.E118X		.											.	SIM1-94	0			c.G352T						.						174.0	158.0	163.0					6																	100898139		2203	4300	6503	SO:0001627	intron_variant	6492	exon3			ACTCACCTACCTG	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.348+3G>T	6.37:g.100898139C>A		59	0		84	7	NM_005068	0	0	0	0	0	Q5TDP7	Nonsense_Mutation	SNP	ENST00000369208.3	37	CCDS5045.1																																																																																			.		0.557	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
GRIK2	2898	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	102503296	102503296	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:102503296C>A	ENST00000421544.1	+	15	2893	c.2403C>A	c.(2401-2403)ggC>ggA	p.G801G	GRIK2_ENST00000369137.3_Silent_p.G725G|GRIK2_ENST00000369138.1_Silent_p.G801G|GRIK2_ENST00000318991.6_Silent_p.G801G|GRIK2_ENST00000413795.1_Silent_p.G801G|GRIK2_ENST00000369134.4_Silent_p.G752G	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	801					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GGTGGAGGGGCAATGGTTGCC	0.488																																					p.G801G		.											.	GRIK2-157	0			c.C2403A						.						105.0	106.0	106.0					6																	102503296		2203	4300	6503	SO:0001819	synonymous_variant	2898	exon15			GAGGGGCAATGGT		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2403C>A	6.37:g.102503296C>A		94	0		145	45	NM_021956	0	0	0	0	0	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	ENST00000421544.1	37	CCDS5048.1																																																																																			.		0.488	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		
AIM1	202	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	106975232	106975232	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:106975232G>T	ENST00000369066.3	+	5	3728	c.3241G>T	c.(3241-3243)Gaa>Taa	p.E1081*		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CCCCTTAGAAGAAGGAGAATT	0.433																																					p.E1081X		.											.	AIM1-139	0			c.G3241T						.						184.0	177.0	179.0					6																	106975232		2203	4300	6503	SO:0001587	stop_gained	202	exon5			TTAGAAGAAGGAG	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3241G>T	6.37:g.106975232G>T	ENSP00000358062:p.Glu1081*	185	1		238	27	NM_001624	0	0	0	0	0	Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	46	12.940518	0.99707	.	.	ENSG00000112297	ENST00000369066	.	.	.	5.29	5.29	0.74685	.	0.046204	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.2966	0.94124	0.0:0.0:1.0:0.0	.	.	.	.	X	1081	.	ENSP00000358062:E1081X	E	+	1	0	AIM1	107081925	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.115000	0.89572	2.630000	0.89119	0.650000	0.86243	GAA	.		0.433	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		
AK9	221264	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	109850273	109850273	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:109850273C>A	ENST00000424296.2	-	29	3650	c.3574G>T	c.(3574-3576)Gat>Tat	p.D1192Y	AK9_ENST00000341338.6_Missense_Mutation_p.D271Y|AK9_ENST00000355283.1_Missense_Mutation_p.D271Y	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1192	Adenylate kinase 2.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										GCAATCGTATCAACCTGTTAA	0.299																																					p.D1192Y		.											.	AKD1-91	0			c.G3574T						.						76.0	76.0	76.0					6																	109850273		2202	4299	6501	SO:0001583	missense	221264	exon29			TCGTATCAACCTG	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3574G>T	6.37:g.109850273C>A	ENSP00000410186:p.Asp1192Tyr	19	0		24	6	NM_001145128	0	0	0	0	0	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.10|12.10	1.837695|1.837695	0.32513|0.32513	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000424296;ENST00000355283;ENST00000341338|ENST00000470564;ENST00000491875	T;T;T|.	0.65549|.	-0.16;-0.12;-0.16|.	3.99|3.99	3.13|3.13	0.36017|0.36017	ATPase, AAA+ type, core (1);|.	0.323259|.	0.31909|.	N|.	0.006875|.	T|T	0.22085|0.22085	0.0532|0.0532	L|L	0.42245|0.42245	1.32|1.32	0.20196|0.20196	N|N	0.999924|0.999924	D;D|.	0.71674|.	0.998;0.998|.	D;D|.	0.66847|.	0.935;0.947|.	T|T	0.13980|0.13980	-1.0489|-1.0489	9|5	.|.	.|.	.|.	.|.	10.0095|10.0095	0.41977|0.41977	0.0:0.9058:0.0:0.0942|0.0:0.9058:0.0:0.0942	.|.	271;1192|.	Q5TCS8-5;Q5TCS8|.	.;AKD1_HUMAN|.	Y|F	1192;271;271|29;126	ENSP00000410186:D1192Y;ENSP00000347431:D271Y;ENSP00000344637:D271Y|.	.|.	D|L	-|-	1|3	0|2	AKD1|AKD1	109956966|109956966	0.267000|0.267000	0.24122|0.24122	0.519000|0.519000	0.27824|0.27824	0.175000|0.175000	0.22909|0.22909	1.426000|1.426000	0.34870|0.34870	0.907000|0.907000	0.36646|0.36646	0.655000|0.655000	0.94253|0.94253	GAT|TTG	.		0.299	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128	
FIG4	9896	broad.mit.edu	37	6	110112598	110112598	+	Nonsense_Mutation	SNP	G	G	T	rs372846619		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:110112598G>T	ENST00000230124.3	+	20	2324	c.2200G>T	c.(2200-2202)Gaa>Taa	p.E734*	FIG4_ENST00000441478.2_Nonsense_Mutation_p.E457*	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	734					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CAATAGAGAAGAAGCTGTATT	0.502																																					p.E734X		.											.	FIG4-69	0			c.G2200T						.						64.0	77.0	72.0					6																	110112598		2203	4300	6503	SO:0001587	stop_gained	9896	exon20			AGAGAAGAAGCTG	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.2200G>T	6.37:g.110112598G>T	ENSP00000230124:p.Glu734*	35	0		43	4	NM_014845	0	0	7	7	0	Q53H49|Q5TCS6	Nonsense_Mutation	SNP	ENST00000230124.3	37	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	G	41	8.576291	0.98870	.	.	ENSG00000112367	ENST00000441478;ENST00000230124;ENST00000419951	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-28.6196	19.9832	0.97338	0.0:0.0:1.0:0.0	.	.	.	.	X	457;734;41	.	ENSP00000230124:E734X	E	+	1	0	FIG4	110219291	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.656000	0.83736	2.722000	0.93159	0.655000	0.94253	GAA	.		0.502	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845	
GOPC	57120	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	117923266	117923266	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:117923266G>T	ENST00000368498.2	-	1	261	c.186C>A	c.(184-186)atC>atA	p.I62I	GOPC_ENST00000535237.1_Silent_p.I62I|GOPC_ENST00000052569.6_Silent_p.I62I	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	62					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CCTCATAAGTGATGTCCGCTT	0.542			O	ROS1	glioblastoma						OREG0017633	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I62I		.		Dom	yes		6	6q21	57120	golgi associated PDZ and coiled-coil motif containing		O	.	GOPC-676	0			c.C186A						.						95.0	83.0	87.0					6																	117923266		2203	4300	6503	SO:0001819	synonymous_variant	57120	exon1			ATAAGTGATGTCC	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.186C>A	6.37:g.117923266G>T		95	0	1484	114	20	NM_001017408	0	0	3	3	0	A6NM30|Q59FS4|Q969U8	Silent	SNP	ENST00000368498.2	37	CCDS5117.1																																																																																			.		0.542	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399	
FAM184A	79632	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	119285913	119285913	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:119285913C>A	ENST00000338891.7	-	16	3500	c.3057G>T	c.(3055-3057)ctG>ctT	p.L1019L	FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000368475.4_Intron|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Silent_p.L850L	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	1019						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TGACTAATTCCAGCTGATAAA	0.299																																					p.L1019L		.											.	FAM184A-519	0			c.G3057T						.						102.0	91.0	94.0					6																	119285913		1805	4065	5870	SO:0001819	synonymous_variant	79632	exon16			TAATTCCAGCTGA	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.3057G>T	6.37:g.119285913C>A		62	0		66	12	NM_024581	0	0	1	1	0	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Silent	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	8.736	0.917760	0.17982	.	.	ENSG00000111879	ENST00000517987	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.2003	13.2245	0.59907	0.0:0.9275:0.0:0.0725	.	.	.	.	X	5	.	.	G	-	1	0	FAM184A	119327612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.267000	0.51577	2.721000	0.93114	0.655000	0.94253	GGA	.		0.299	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
GJA1	2697	ucsc.edu	37	6	121768481	121768481	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:121768481C>A	ENST00000282561.3	+	2	645	c.488C>A	c.(487-489)tCt>tAt	p.S163Y		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	163					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTCTTCAAGTCTATCTTTGAG	0.453																																					p.S163Y		.											.	GJA1-92	0			c.C488A						.						115.0	108.0	110.0					6																	121768481		2203	4300	6503	SO:0001583	missense	2697	exon2			TCAAGTCTATCTT	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.488C>A	6.37:g.121768481C>A	ENSP00000282561:p.Ser163Tyr	205	4		247	42	NM_000165	0	0	51	55	4	B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401478	0.62288	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.97404	-4.37	5.66	4.78	0.61160	.	0.055145	0.85682	D	0.000000	D	0.97723	0.9253	M	0.80746	2.51	0.58432	D	0.999998	D	0.64830	0.994	P	0.59221	0.854	D	0.98047	1.0385	10	0.87932	D	0	.	16.5756	0.84635	0.0:0.8694:0.1306:0.0	.	163	P17302	CXA1_HUMAN	Y	147;163	ENSP00000282561:S163Y	ENSP00000282561:S163Y	S	+	2	0	GJA1	121810180	1.000000	0.71417	0.944000	0.38274	0.898000	0.52572	7.776000	0.85560	1.381000	0.46364	0.460000	0.39030	TCT	.		0.453	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165	
NCOA7	135112	broad.mit.edu	37	6	126210486	126210486	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:126210486G>T	ENST00000368357.3	+	10	1638	c.1286G>T	c.(1285-1287)gGa>gTa	p.G429V	NCOA7_ENST00000392477.2_Missense_Mutation_p.G429V|NCOA7_ENST00000229634.9_Missense_Mutation_p.G314V	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	429					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		ACTGGTGGTGGAATGCACAAA	0.413																																					p.G429V		.											.	NCOA7-227	0			c.G1286T						.						60.0	64.0	63.0					6																	126210486		2203	4300	6503	SO:0001583	missense	135112	exon10			GTGGTGGAATGCA	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.1286G>T	6.37:g.126210486G>T	ENSP00000357341:p.Gly429Val	65	2		87	23	NM_001199619	0	0	2	2	0	B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369231	0.24771	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.35421	2.59;2.59;2.63;1.31	5.28	4.39	0.52855	.	0.355711	0.33023	N	0.005366	T	0.31544	0.0800	L	0.32530	0.975	0.29284	N	0.86982	P;P;D	0.71674	0.895;0.937;0.998	B;P;D	0.64687	0.368;0.572;0.928	T	0.04840	-1.0923	10	0.56958	D	0.05	-6.2332	10.271	0.43483	0.1472:0.0:0.8528:0.0	.	418;418;429	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	V	429;429;314;227	ENSP00000357341:G429V;ENSP00000376269:G429V;ENSP00000229634:G314V;ENSP00000389186:G227V	ENSP00000229634:G314V	G	+	2	0	NCOA7	126252179	0.000000	0.05858	0.980000	0.43619	0.029000	0.11900	0.440000	0.21592	2.744000	0.94065	0.655000	0.94253	GGA	.		0.413	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748	
MED23	9439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	131927695	131927695	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:131927695G>T	ENST00000368068.3	-	13	1470	c.1291C>A	c.(1291-1293)Cat>Aat	p.H431N	MED23_ENST00000545957.1_Missense_Mutation_p.H72N|MED23_ENST00000368060.3_Missense_Mutation_p.H431N|MED23_ENST00000354577.4_Missense_Mutation_p.H437N|MED23_ENST00000540546.1_Missense_Mutation_p.H437N|MED23_ENST00000403834.3_Missense_Mutation_p.H437N|MED23_ENST00000368053.4_Missense_Mutation_p.H437N|MED23_ENST00000368058.1_Missense_Mutation_p.H437N|MED23_ENST00000539158.1_Missense_Mutation_p.H431N	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	431					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTATTGAGATGAATCCAAATA	0.353																																					p.H437N		.											.	MED23-24	0			c.C1309A						.						105.0	104.0	104.0					6																	131927695		2203	4300	6503	SO:0001583	missense	9439	exon14			TGAGATGAATCCA	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1291C>A	6.37:g.131927695G>T	ENSP00000357047:p.His431Asn	160	0		166	33	NM_015979	0	0	1	5	4	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942374	0.92526	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546;ENST00000539158	T;T;T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.84781	0.5548	M	0.65975	2.015	0.80722	D	1	D;P;D;D	0.89917	1.0;0.908;1.0;1.0	D;P;D;D	0.79784	0.986;0.888;0.993;0.988	T	0.81741	-0.0794	10	0.33940	T	0.23	-0.1681	19.6667	0.95895	0.0:0.0:1.0:0.0	.	72;437;431;437	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	N	437;431;437;431;437;72;437;437;431	ENSP00000346588:H437N;ENSP00000357047:H431N;ENSP00000384536:H437N;ENSP00000357039:H431N;ENSP00000357037:H437N;ENSP00000439977:H72N;ENSP00000357032:H437N;ENSP00000437818:H437N;ENSP00000445072:H431N	ENSP00000346588:H437N	H	-	1	0	MED23	131969388	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.823000	0.99369	2.632000	0.89209	0.650000	0.86243	CAT	.		0.353	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1		
TAAR5	9038	bcgsc.ca	37	6	132910431	132910431	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:132910431C>A	ENST00000258034.2	-	1	446	c.395G>T	c.(394-396)cGc>cTc	p.R132L		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	132					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGCACAGTGGCGGTCAATGGA	0.582																																					p.R132L		.											.	TAAR5-91	0			c.G395T						.						100.0	109.0	106.0					6																	132910431		2203	4300	6503	SO:0001583	missense	9038	exon1			CAGTGGCGGTCAA	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.395G>T	6.37:g.132910431C>A	ENSP00000258034:p.Arg132Leu	231	2		291	14	NM_003967	0	0	0	0	0	D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561571	0.86335	.	.	ENSG00000135569	ENST00000258034	D	0.97161	-4.27	5.58	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	D	0.99174	0.9714	H	0.99565	4.63	0.49915	D	0.999834	D	0.89917	1.0	D	0.81914	0.995	D	0.98621	1.0667	10	0.87932	D	0	-16.1638	14.574	0.68232	0.0:0.9306:0.0:0.0694	.	132	O14804	TAAR5_HUMAN	L	132	ENSP00000258034:R132L	ENSP00000258034:R132L	R	-	2	0	TAAR5	132952124	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.860000	0.69546	1.605000	0.50152	-0.136000	0.14681	CGC	.		0.582	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967	
MYB	4602	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	135513461	135513461	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:135513461G>T	ENST00000367814.4	+	6	713		c.e6-1		MYB_ENST00000316528.8_Splice_Site|MYB_ENST00000527615.1_Splice_Site|MYB_ENST00000442647.2_Splice_Site|MYB_ENST00000420123.2_Splice_Site|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000528774.1_Splice_Site|MYB_ENST00000533624.1_Splice_Site|MYB_ENST00000531845.1_Splice_Site|MYB_ENST00000341911.5_Splice_Site|MYB_ENST00000534044.1_Splice_Site|MYB_ENST00000525369.1_Splice_Site|MYB_ENST00000534121.1_Splice_Site	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TTTCTGTGCAGAACTGATAAT	0.398			T	NFIB	adenoid cystic carcinoma																																.		.		Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	.	MYB-838	0			c.528-1G>T						.						50.0	52.0	51.0					6																	135513461		2203	4300	6503	SO:0001630	splice_region_variant	4602	exon6			TGTGCAGAACTGA		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.528-1G>T	6.37:g.135513461G>T		56	0		83	8	NM_001161660	0	0	0	0	0	E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Splice_Site	SNP	ENST00000367814.4	37	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675109	0.88445	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6152	0.95630	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYB	135555154	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.822000	0.99363	2.628000	0.89032	0.655000	0.94253	.	.		0.398	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4		Intron
MYB	4602	bcgsc.ca	37	6	135517036	135517036	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:135517036G>T	ENST00000367814.4	+	9	1285	c.1099G>T	c.(1099-1101)Gaa>Taa	p.E367*	MYB_ENST00000316528.8_Nonsense_Mutation_p.E367*|MYB_ENST00000527615.1_Nonsense_Mutation_p.E367*|MYB_ENST00000442647.2_Nonsense_Mutation_p.E364*|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000528774.1_Nonsense_Mutation_p.E364*|MYB_ENST00000533624.1_Nonsense_Mutation_p.E332*|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000341911.5_Nonsense_Mutation_p.E367*|MYB_ENST00000534044.1_Nonsense_Mutation_p.E367*|MYB_ENST00000525369.1_Intron|MYB_ENST00000534121.1_Nonsense_Mutation_p.E367*	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	367	Negative regulatory domain. {ECO:0000250}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CCTACCTGAAGAAAGCGCCTC	0.512			T	NFIB	adenoid cystic carcinoma																																p.E367X		.		Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	.	MYB-838	0			c.G1099T						.						108.0	88.0	94.0					6																	135517036		2203	4300	6503	SO:0001587	stop_gained	4602	exon9			CCTGAAGAAAGCG		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1099G>T	6.37:g.135517036G>T	ENSP00000356788:p.Glu367*	103	3		136	72	NM_001161659	0	0	0	0	0	E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Nonsense_Mutation	SNP	ENST00000367814.4	37	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	G	37	6.362990	0.97507	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-17.0352	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	X	367;364;367;367;367;367;364;367;367;332	.	ENSP00000237302:E367X	E	+	1	0	MYB	135558729	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.761000	0.91691	2.824000	0.97209	0.655000	0.94253	GAA	.		0.512	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4		
HECA	51696	broad.mit.edu	37	6	139487898	139487898	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:139487898C>A	ENST00000367658.2	+	2	1034	c.749C>A	c.(748-750)tCc>tAc	p.S250Y	RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000591102.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	250					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CGGCAGAACTCCCAGGAGAAG	0.682																																					p.S250Y		.											.	HECA-90	0			c.C749A						.						15.0	18.0	17.0					6																	139487898		2199	4299	6498	SO:0001583	missense	51696	exon2			AGAACTCCCAGGA	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.749C>A	6.37:g.139487898C>A	ENSP00000356630:p.Ser250Tyr	65	2		116	13	NM_016217	0	0	0	0	0		Missense_Mutation	SNP	ENST00000367658.2	37	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013590	0.75161	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.13	4.26	0.50523	.	0.105169	0.64402	D	0.000002	T	0.51753	0.1693	N	0.24115	0.695	0.58432	D	0.999997	D	0.71674	0.998	D	0.63381	0.914	T	0.62011	-0.6944	9	0.72032	D	0.01	.	15.7184	0.77688	0.0:0.8629:0.1371:0.0	.	250	Q9UBI9	HDC_HUMAN	Y	250	.	ENSP00000356630:S250Y	S	+	2	0	HECA	139529591	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.442000	0.66575	1.377000	0.46286	0.655000	0.94253	TCC	.		0.682	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217	
HIVEP2	3097	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	143094923	143094923	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:143094923G>T	ENST00000367604.1	-	4	1592	c.953C>A	c.(952-954)tCa>tAa	p.S318*	HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.S318*|HIVEP2_ENST00000367603.2_Nonsense_Mutation_p.S318*			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ACCTCCCAATGATTCTTCCAA	0.473																																					p.S318X	Esophageal Squamous(107;843 1510 13293 16805 42198)	.											.	HIVEP2-95	0			c.C953A						.						75.0	73.0	74.0					6																	143094923		1885	4104	5989	SO:0001587	stop_gained	3097	exon5			CCCAATGATTCTT	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.953C>A	6.37:g.143094923G>T	ENSP00000356576:p.Ser318*	41	1		65	14	NM_006734	0	0	0	0	0	Q02646|Q5THT5|Q9NS05	Nonsense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	43	10.181362	0.99353	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	.	.	.	5.41	5.41	0.78517	.	0.219617	0.42172	D	0.000755	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-16.1354	19.7389	0.96218	0.0:0.0:1.0:0.0	.	.	.	.	X	318	.	ENSP00000012134:S318X	S	-	2	0	HIVEP2	143136616	1.000000	0.71417	0.793000	0.32043	0.994000	0.84299	7.265000	0.78442	2.747000	0.94245	0.644000	0.83932	TCA	.		0.473	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
GRM1	2911	broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	146708064	146708064	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:146708064C>A	ENST00000282753.1	+	6	1876	c.1641C>A	c.(1639-1641)tgC>tgA	p.C547*	GRM1_ENST00000361719.2_Nonsense_Mutation_p.C547*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.C547*|GRM1_ENST00000507907.1_Nonsense_Mutation_p.C547*|GRM1_ENST00000392299.2_Nonsense_Mutation_p.C547*|GRM1_ENST00000355289.4_Nonsense_Mutation_p.C547*			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	547					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GCTGGATTTGCACGGCCTGCA	0.418																																					p.C547X		.											.	GRM1-1080	0			c.C1641A						.						130.0	123.0	126.0					6																	146708064		2203	4300	6503	SO:0001587	stop_gained	2911	exon7			GATTTGCACGGCC	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1641C>A	6.37:g.146708064C>A	ENSP00000282753:p.Cys547*	91	2		109	26	NM_000838	0	0	0	0	0	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Nonsense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	42	9.423110	0.99166	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	.	.	.	5.45	1.68	0.24146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1821	0.42975	0.0:0.7258:0.0:0.2742	.	.	.	.	X	547	.	ENSP00000282753:C547X	C	+	3	2	GRM1	146749757	0.987000	0.35691	1.000000	0.80357	0.991000	0.79684	0.295000	0.19065	0.672000	0.31204	0.585000	0.79938	TGC	.		0.418	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
GRM1	2911	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	146708146	146708146	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:146708146C>A	ENST00000282753.1	+	6	1958	c.1723C>A	c.(1723-1725)Cta>Ata	p.L575I	GRM1_ENST00000361719.2_Missense_Mutation_p.L575I|GRM1_ENST00000492807.2_Missense_Mutation_p.L575I|GRM1_ENST00000507907.1_Missense_Mutation_p.L575I|GRM1_ENST00000392299.2_Missense_Mutation_p.L575I|GRM1_ENST00000355289.4_Missense_Mutation_p.L575I			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	575					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CAATGCAGATCTAACAGGTAG	0.473																																					p.L575I		.											.	GRM1-1080	0			c.C1723A						.						185.0	175.0	179.0					6																	146708146		2203	4300	6503	SO:0001583	missense	2911	exon7			GCAGATCTAACAG	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1723C>A	6.37:g.146708146C>A	ENSP00000282753:p.Leu575Ile	91	1		121	35	NM_000838	0	0	0	0	0	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782533	0.49891	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.87809	-2.27;-2.3;-2.3;-2.27;-2.3;-2.3	5.42	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.90724	0.7089	M	0.83603	2.65	0.53688	D	0.99997	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.78314	0.948;0.991;0.958	D	0.91439	0.5172	10	0.72032	D	0.01	.	8.3425	0.32252	0.0:0.7618:0.0:0.2382	.	575;575;575	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	I	575	ENSP00000354896:L575I;ENSP00000376119:L575I;ENSP00000424095:L575I;ENSP00000282753:L575I;ENSP00000347437:L575I;ENSP00000425599:L575I	ENSP00000282753:L575I	L	+	1	2	GRM1	146749839	0.762000	0.28451	0.959000	0.39883	0.308000	0.27856	1.450000	0.35134	1.269000	0.44280	0.585000	0.79938	CTA	.		0.473	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
ZC3H12D	340152	hgsc.bcm.edu	37	6	149772190	149772190	+	Missense_Mutation	SNP	G	G	A	rs112722576	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:149772190G>A	ENST00000409806.3	-	6	1531	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S	ZC3H12D_ENST00000416573.2_Missense_Mutation_p.A307V|ZC3H12D_ENST00000498662.1_5'Flank|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.A307V|ZC3H12D_ENST00000389942.5_Missense_Mutation_p.P405S			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	405	Pro-rich. {ECO:0000255}.			P -> S (in Ref. 4; AAI57833). {ECO:0000305}.	negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.P405S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		CCGGGCGGAGGCGGGAGGTCG	0.776													G|||	1682	0.335863	0.1619	0.389	5008	,	,		8771	0.7649		0.1412	False		,,,				2504	0.2914				p.P405S		.											.	.	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.C1213T						.	G	SER/PRO	516,2856		37,442,1207	3.0	5.0	4.0		1213	-1.9	0.0	6	dbSNP_132	4	945,6567		66,813,2877	no	missense	ZC3H12D	NM_207360.2	74	103,1255,4084	AA,AG,GG		12.5799,15.3025,13.4234	benign	405/528	149772190	1461,9423	1686	3756	5442	SO:0001583	missense	340152	exon6			GCGGAGGCGGGAG			6q25.1	2012-07-05	2005-06-30	2005-06-30	ENSG00000178199	ENSG00000178199		"""Zinc fingers, CCCH-type domain containing"""	21175	protein-coding gene	gene with protein product	"""MCP induced protein 4"""	611106	"""chromosome 6 open reading frame 95"""	C6orf95		18178554	Standard	NM_207360		Approved	dJ281H8.1, MCPIP4	uc010kid.3	A2A288	OTTHUMG00000015786	ENST00000409806.3:c.1213C>T	6.37:g.149772190G>A	ENSP00000386616:p.Pro405Ser	1	0		21	12	NM_207360	0	0	0	0	0	A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2	Missense_Mutation	SNP	ENST00000409806.3	37		724|724	0.3315018315018315|0.3315018315018315	94|94	0.1910569105691057|0.1910569105691057	123|123	0.3397790055248619|0.3397790055248619	399|399	0.6975524475524476|0.6975524475524476	108|108	0.1424802110817942|0.1424802110817942	G|G	14.21|14.21	2.466986|2.466986	0.43839|0.43839	0.153025|0.153025	0.125799|0.125799	ENSG00000178199|ENSG00000178199	ENST00000416573;ENST00000542614|ENST00000389942;ENST00000409806	T;T|T;T	0.31247|0.25749	1.53;1.5|1.78;1.78	2.45|2.45	-1.9|-1.9	0.07665|0.07665	.|.	.|.	.|.	.|.	.|.	T|T	0.02193|0.02193	0.0068|0.0068	N|N	0.11427|0.11427	0.14|0.14	0.80722|0.80722	P|P	0.0|0.0	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.04013	0.0|0.001	T|T	0.42085|0.42085	-0.9472|-0.9472	8|8	0.27785|0.06365	T|T	0.31|0.9	1.0E-4|1.0E-4	3.5413|3.5413	0.07812|0.07812	0.5478:0.2181:0.2341:0.0|0.5478:0.2181:0.2341:0.0	.|.	307|405	B7WNU7|A2A288	.|ZC12D_HUMAN	V|S	307|405	ENSP00000408686:A307V;ENSP00000440813:A307V|ENSP00000374592:P405S;ENSP00000386616:P405S	ENSP00000408686:A307V|ENSP00000374592:P405S	A|P	-|-	2|1	0|0	ZC3H12D|ZC3H12D	149813883|149813883	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.563000|0.563000	0.35712|0.35712	0.541000|0.541000	0.23207|0.23207	-0.300000|-0.300000	0.08895|0.08895	0.313000|0.313000	0.20887|0.20887	GCC|CCT	G|0.668;A|0.332		0.776	ZC3H12D-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000286400.2	NM_207360	
PLEKHG1	57480	broad.mit.edu	37	6	151055067	151055067	+	Missense_Mutation	SNP	G	G	A	rs199980034	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:151055067G>A	ENST00000358517.2	+	2	461	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.E84K			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	84							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TGAGGGCAGCGAAAGGCCACC	0.617													G|||	5	0.000998403	0.0	0.0072	5008	,	,		17213	0.0		0.0	False		,,,				2504	0.0				p.E84K		.											.	PLEKHG1-92	0			c.G250A						.						41.0	46.0	45.0					6																	151055067		2203	4300	6503	SO:0001583	missense	57480	exon3			GGCAGCGAAAGGC	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.250G>A	6.37:g.151055067G>A	ENSP00000351318:p.Glu84Lys	86	2		122	15	NM_001029884	0	0	0	0	0	Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	CCDS34552.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	16.83	3.231862	0.58777	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.59502	0.26;0.26	5.51	3.72	0.42706	.	0.702570	0.15332	N	0.267944	T	0.29458	0.0734	L	0.60455	1.87	0.09310	N	1	P;P	0.37158	0.585;0.585	B;B	0.25614	0.038;0.062	T	0.03910	-1.0993	9	.	.	.	.	12.0966	0.53758	0.1403:0.0:0.8597:0.0	.	84;84	Q5JYA6;Q9ULL1	.;PKHG1_HUMAN	K	84	ENSP00000356297:E84K;ENSP00000351318:E84K	.	E	+	1	0	PLEKHG1	151096760	0.238000	0.23825	0.003000	0.11579	0.005000	0.04900	1.865000	0.39479	0.798000	0.33994	0.655000	0.94253	GAA	G|0.999;A|0.001		0.617	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1		
AKAP12	9590	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	151647016	151647016	+	Intron	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:151647016C>A	ENST00000253332.1	+	2	508				AKAP12_ENST00000402676.2_Intron|AKAP12_ENST00000354675.6_Silent_p.I7I			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12						G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CCATCACCATCACAGGTAAGG	0.582																																					p.I7I	Melanoma(141;1616 1805 10049 24534 51979)	.											.	AKAP12-293	0			c.C21A						.						75.0	68.0	71.0					6																	151647016		2203	4300	6503	SO:0001627	intron_variant	9590	exon1			CACCATCACAGGT	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.319+19978C>A	6.37:g.151647016C>A		50	0		70	12	NM_144497	0	0	0	0	0	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	CCDS5229.1																																																																																			.		0.582	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
SYNE1	23345	broad.mit.edu	37	6	152551838	152551838	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:152551838C>A	ENST00000367255.5	-	115	21641		c.e115-1		SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACAGCTGGATCTGAACAAACA	0.299										HNSCC(10;0.0054)																											.		.											.	SYNE1-607	0			c.20827-1G>T						.						65.0	59.0	61.0					6																	152551838		2203	4300	6503	SO:0001630	splice_region_variant	23345	exon115			CTGGATCTGAACA	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.21040-1G>T	6.37:g.152551838C>A		48	2		50	8	NM_033071	0	0	0	0	0	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504997	0.85282	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9595	0.97236	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYNE1	152593531	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.487000	0.81328	2.706000	0.92434	0.563000	0.77884	.	.		0.299	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron
TIAM2	26230	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	155566830	155566830	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:155566830C>A	ENST00000461783.3	+	21	4890	c.3617C>A	c.(3616-3618)gCt>gAt	p.A1206D	TIAM2_ENST00000360366.4_Missense_Mutation_p.A1230D|TIAM2_ENST00000528391.2_Missense_Mutation_p.A542D|TIAM2_ENST00000456877.2_Missense_Mutation_p.A518D|TIAM2_ENST00000529824.2_Missense_Mutation_p.A1206D|TIAM2_ENST00000367174.2_Missense_Mutation_p.A582D|TIAM2_ENST00000275246.7_Missense_Mutation_p.A131D|TIAM2_ENST00000318981.5_Missense_Mutation_p.A1206D|TIAM2_ENST00000456144.1_Missense_Mutation_p.A1206D			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1206	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGATTCTGTGCTAACCATATC	0.373																																					p.A1206D		.											.	TIAM2-93	0			c.C3617A						.						188.0	202.0	197.0					6																	155566830		2203	4300	6503	SO:0001583	missense	26230	exon18			TCTGTGCTAACCA		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3617C>A	6.37:g.155566830C>A	ENSP00000437188:p.Ala1206Asp	46	0		70	16	NM_012454	0	0	5	8	3	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	35	5.423205	0.96111	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246;ENST00000462408	T;T;T;T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.44	5.44	0.79542	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.76730	0.4028	M	0.77486	2.375	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.76083	-0.3089	10	0.44086	T	0.13	.	19.2827	0.94058	0.0:1.0:0.0:0.0	.	542;1206;1230;1206	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	D	1206;1452;1206;1206;1206;582;1230;1206;518;542;131;144	ENSP00000437188:A1206D;ENSP00000434901:A1206D;ENSP00000407746:A1206D;ENSP00000327315:A1206D;ENSP00000356142:A582D;ENSP00000353528:A1230D;ENSP00000433348:A1206D;ENSP00000407183:A518D;ENSP00000435335:A542D;ENSP00000275246:A131D;ENSP00000431269:A144D	ENSP00000275246:A131D	A	+	2	0	TIAM2	155608522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.545000	0.85829	0.655000	0.94253	GCT	.		0.373	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
SLC22A2	6582	hgsc.bcm.edu	37	6	160663410	160663410	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:160663410A>G	ENST00000366953.3	-	8	1562	c.1304T>C	c.(1303-1305)aTc>aCc	p.I435T	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	435					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CAAGCATGAGATAATAATTTT	0.438																																					p.I435T		.											.	SLC22A2-154	0			c.T1304C						.						153.0	138.0	143.0					6																	160663410		2203	4300	6503	SO:0001583	missense	6582	exon8			CATGAGATAATAA	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1304T>C	6.37:g.160663410A>G	ENSP00000355920:p.Ile435Thr	124	0		114	14	NM_003058	0	0	0	0	0	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.561409	0.27915	.	.	ENSG00000112499	ENST00000366953	T	0.74209	-0.82	5.13	3.97	0.46021	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.465407	0.22299	N	0.061885	T	0.48786	0.1519	L	0.47716	1.5	0.31356	N	0.68198	B	0.10296	0.003	B	0.11329	0.006	T	0.49447	-0.8939	10	0.66056	D	0.02	.	7.3075	0.26455	0.7857:0.0:0.2143:0.0	.	435	O15244	S22A2_HUMAN	T	435	ENSP00000355920:I435T	ENSP00000355920:I435T	I	-	2	0	SLC22A2	160583400	0.022000	0.18835	0.000000	0.03702	0.001000	0.01503	2.841000	0.48223	1.069000	0.40788	0.533000	0.62120	ATC	.		0.438	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058	
SLC22A2	6582	bcgsc.ca	37	6	160663410	160663422	+	Frame_Shift_Del	DEL	ATAATAATTTTTA	ATAATAATTTTTA	-	rs8177517	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	ATAATAATTTTTA	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:160663410_160663422delATAATAATTTTTA	ENST00000366953.3	-	8	1550_1562	c.1292_1304delTAAAAATTATTAT	c.(1291-1305)ctaaaaattattatcfs	p.LKIII431fs	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	431					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CAAGCATGAGATAATAATTTTTAGCCATTGTAG	0.427																																					p.431_435del		.											.	SLC22A2-154	0			c.1292_1304del	GRCh37	CM024426	SLC22A2	M	rs8177517	.																																			SO:0001589	frameshift_variant	6582	exon8			CATGAGATAATAA	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1292_1304delTAAAAATTATTAT	6.37:g.160663410_160663422delATAATAATTTTTA	ENSP00000355920:p.Leu431fs	125	0		118	6	NM_003058	0	0	0	0	0	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Frame_Shift_Del	DEL	ENST00000366953.3	37	CCDS5276.1																																																																																			.		0.427	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058	
SLC22A2	6582	hgsc.bcm.edu	37	6	160663414	160663438	+	Splice_Site	DEL	TAATTTTTAGCCATTGTAGATCTAA	TAATTTTTAGCCATTGTAGATCTAA	-	rs8177517	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	TAATTTTTAGCCATTGTAGATCTAA	TAATTTTTAGCCATTGTAGATCTAA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:160663414_160663438delTAATTTTTAGCCATTGTAGATCTAA	ENST00000366953.3	-	8	1538_1558	c.1280_1300delTTAGATCTACAATGGCTAAAAATTA	c.(1279-1302)gttagatctacaatggctaaaaat>gat	p.VRSTMAKN427fs	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	427					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CATGAGATAATAATTTTTAGCCATTGTAGATCTAAGAGGGAAAAG	0.44																																					p.427_434del		.											.	SLC22A2-154	0			c.1280_1300del	GRCh37	CM024426	SLC22A2	M	rs8177517	.																																			SO:0001630	splice_region_variant	6582	exon8			AGATAATAATTTT	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1280-1TTAGATCTACAATGGCTAAAAATTA>-	6.37:g.160663414_160663438delTAATTTTTAGCCATTGTAGATCTAA		113	0		106	0	NM_003058	0	0	0	0	0	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	In_Frame_Del	DEL	ENST00000366953.3	37	CCDS5276.1																																																																																			.		0.440	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058	Frame_Shift_Del
SLC22A2	6582	bcgsc.ca	37	6	160663424	160663435	+	Splice_Site	DEL	CCATTGTAGATC	CCATTGTAGATC	-			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	CCATTGTAGATC	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:160663424_160663435delCCATTGTAGATC	ENST00000366953.3	-	8	1538_1548	c.1280_1290delGATCTACAATGG	c.(1279-1290)ggatctacaatg>g	p.GSTM427del	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	427					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	TAATTTTTAGCCATTGTAGATCTAAGAGGGAA	0.439																																					p.427_430del		.											.	SLC22A2-154	0			c.1280_1290del						.																																			SO:0001630	splice_region_variant	6582	exon8			TTTTAGCCATTGT	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1280-1GATCTACAATGG>-	6.37:g.160663424_160663435delCCATTGTAGATC		99	0		92	6	NM_003058	0	0	0	0	0	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Frame_Shift_Del	DEL	ENST00000366953.3	37	CCDS5276.1																																																																																			.		0.439	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058	In_Frame_Del
C6orf123	26238	broad.mit.edu;bcgsc.ca	37	6	168188273	168188273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:168188273G>A	ENST00000366822.2	-	3	399	c.145C>T	c.(145-147)Caa>Taa	p.Q49*						chromosome 6 open reading frame 123																		TCCCAGTGTTGAAATAAACCT	0.468																																					.		.											.	.	0			.						.						85.0	84.0	84.0					6																	168188273		692	1591	2283	SO:0001587	stop_gained	26238	.			AGTGTTGAAATAA			6q27	2008-02-05			ENSG00000146521	ENSG00000146521			21235	protein-coding gene	gene with protein product						10382971	Standard	NR_026773		Approved	HGC6.2, dJ431P23.4	uc003sic.3	Q9Y6Z2	OTTHUMG00000016030	ENST00000366822.2:c.145C>T	6.37:g.168188273G>A	ENSP00000355787:p.Gln49*	29	0		33	5	.	0	0	0	0	0		RNA	SNP	ENST00000366822.2	37		.	.	.	.	.	.	.	.	.	.	G	11.77	1.738530	0.30774	.	.	ENSG00000146521	ENST00000366822	.	.	.	1.52	-1.42	0.08913	.	.	.	.	.	.	.	.	.	.	.	0.23150	N	0.99821	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	1.6232	0.02717	0.504:0.0:0.2033:0.2927	.	.	.	.	X	49	.	ENSP00000355787:Q49X	Q	-	1	0	C6orf123	167931122	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-0.289000	0.08365	-0.397000	0.07691	-1.962000	0.00476	CAA	.		0.468	C6orf123-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043147.3	NM_014356	
MLLT4	4301	broad.mit.edu;bcgsc.ca	37	6	168226966	168226966	+	5'Flank	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:168226966G>T	ENST00000447894.2	+	0	0				MLLT4_ENST00000392108.3_5'Flank|MLLT4_ENST00000366806.2_5'Flank|MLLT4_ENST00000344191.4_5'Flank|MLLT4_ENST00000392112.1_5'Flank|MLLT4-AS1_ENST00000359760.5_RNA|MLLT4_ENST00000351017.4_5'Flank|MLLT4_ENST00000400822.3_5'Flank			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CATCCGAACCGAACCTAGCAC	0.682			T	MLL	AL																																.		.		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	.	.	0			.						.						105.0	139.0	128.0					6																	168226966		2005	4140	6145	SO:0001631	upstream_gene_variant	653483	.			CGAACCGAACCTA	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031		6.37:g.168226966G>T	Exception_encountered	87	1		207	12	.	0	0	0	0	0	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	RNA	SNP	ENST00000447894.2	37																																																																																				.		0.682	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	
AMZ1	155185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	2752257	2752257	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:2752257C>A	ENST00000312371.4	+	7	1610	c.1242C>A	c.(1240-1242)tgC>tgA	p.C414*	AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	414							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		TGGCCATGTGCATCCAGGCCC	0.677																																					p.C414X		.											.	AMZ1-90	0			c.C1242A						.						41.0	38.0	39.0					7																	2752257		2203	4298	6501	SO:0001587	stop_gained	155185	exon7			CATGTGCATCCAG	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.1242C>A	7.37:g.2752257C>A	ENSP00000308149:p.Cys414*	81	0		194	20	NM_133463	0	0	1	1	0	B3KRS0|Q8TF51	Nonsense_Mutation	SNP	ENST00000312371.4	37	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	C	38	7.017514	0.98006	.	.	ENSG00000174945	ENST00000312371	.	.	.	4.67	2.86	0.33363	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.5077	9.0441	0.36336	0.0:0.8366:0.0:0.1634	.	.	.	.	X	414	.	ENSP00000308149:C414X	C	+	3	2	AMZ1	2718783	1.000000	0.71417	0.987000	0.45799	0.588000	0.36517	2.319000	0.43788	0.402000	0.25451	0.462000	0.41574	TGC	.		0.677	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463	
AP5Z1	9907	broad.mit.edu	37	7	4828476	4828476	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:4828476C>T	ENST00000348624.4	+	13	1695	c.1601C>T	c.(1600-1602)gCg>gTg	p.A534V	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000401897.1_Missense_Mutation_p.A534V	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	534					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTCAGGTTGGCGCCACTCCAC	0.697																																					p.A534V		.											.	.	0			c.C1601T						.						16.0	19.0	18.0					7																	4828476		2194	4279	6473	SO:0001583	missense	9907	exon13			GGTTGGCGCCACT	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.1601C>T	7.37:g.4828476C>T	ENSP00000297562:p.Ala534Val	15	0		210	8	NM_014855	0	0	0	0	0	Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	C	4.049	0.006790	0.07866	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.46451	0.87;0.87	5.1	0.0527	0.14303	.	0.504809	0.22144	N	0.064013	T	0.24122	0.0584	L	0.40543	1.245	0.09310	N	1	B	0.22211	0.066	B	0.11329	0.006	T	0.11397	-1.0589	10	0.27082	T	0.32	.	1.4007	0.02270	0.1334:0.3601:0.2608:0.2456	.	534	O43299	K0415_HUMAN	V	534	ENSP00000297562:A534V;ENSP00000384980:A534V	ENSP00000297562:A534V	A	+	2	0	KIAA0415	4795002	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.054000	0.11826	-0.346000	0.08312	-0.850000	0.03035	GCG	.		0.697	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1		
C1GALT1	56913	broad.mit.edu;bcgsc.ca	37	7	7283285	7283285	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:7283285C>T	ENST00000223122.3	+	3	1081	c.1019C>T	c.(1018-1020)cCt>cTt	p.P340L	C1GALT1_ENST00000436587.2_Missense_Mutation_p.P340L			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	340					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		CCTACCTTACCTGAACGTATA	0.313																																					p.P340L		.											.	C1GALT1-90	0			c.C1019T						.						119.0	111.0	114.0					7																	7283285		2203	4299	6502	SO:0001583	missense	56913	exon4			CCTTACCTGAACG	AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"""Beta 3-glycosyltransferases"""	24337	protein-coding gene	gene with protein product	"""core 1 beta3-Gal-T"""	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.1019C>T	7.37:g.7283285C>T	ENSP00000223122:p.Pro340Leu	86	1		140	53	NM_020156	0	0	25	46	21	Q96QH4|Q9BTU1	Missense_Mutation	SNP	ENST00000223122.3	37	CCDS5355.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340098	0.60963	.	.	ENSG00000106392	ENST00000436587;ENST00000223122	T;T	0.59364	0.27;0.27	4.64	4.64	0.57946	.	0.265631	0.31279	N	0.007939	T	0.52500	0.1738	L	0.46670	1.46	0.58432	D	0.999999	P	0.35821	0.523	B	0.32624	0.149	T	0.59343	-0.7472	10	0.56958	D	0.05	-6.2838	18.39	0.90479	0.0:1.0:0.0:0.0	.	340	Q9NS00	C1GLT_HUMAN	L	340	ENSP00000389176:P340L;ENSP00000223122:P340L	ENSP00000223122:P340L	P	+	2	0	C1GALT1	7249810	0.263000	0.24083	1.000000	0.80357	0.945000	0.59286	2.755000	0.47540	2.520000	0.84964	0.655000	0.94253	CCT	.		0.313	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324379.2	NM_020156	
MACC1	346389	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	20180669	20180669	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:20180669G>C	ENST00000400331.5	-	7	2767	c.2459C>G	c.(2458-2460)cCt>cGt	p.P820R	MACC1-AS1_ENST00000439285.1_RNA|MACC1_ENST00000332878.4_Missense_Mutation_p.P820R|MACC1_ENST00000589011.1_Missense_Mutation_p.P820R	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	820					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTTAGTCACAGGGTTTTTCAT	0.388																																					p.P820R		.											.	MACC1-93	0			c.C2459G						.						92.0	94.0	93.0					7																	20180669		2203	4300	6503	SO:0001583	missense	346389	exon7			GTCACAGGGTTTT		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.2459C>G	7.37:g.20180669G>C	ENSP00000383185:p.Pro820Arg	39	0		78	16	NM_182762	0	0	0	0	0	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881522	0.91740	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.44083	0.93;0.93	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.64216	0.2578	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64753	-0.6333	10	0.87932	D	0	-18.5657	19.9351	0.97137	0.0:0.0:1.0:0.0	.	820	Q6ZN28	MACC1_HUMAN	R	820	ENSP00000383185:P820R;ENSP00000328410:P820R	ENSP00000328410:P820R	P	-	2	0	MACC1	20147194	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.703000	0.92315	0.655000	0.94253	CCT	.		0.388	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762	
NUPL2	11097	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	23240027	23240027	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:23240027G>T	ENST00000258742.5	+	7	1194	c.935G>T	c.(934-936)gGa>gTa	p.G312V		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	312	Ser-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCAGTTTTGGATCACCTGGA	0.507																																					p.G312V		.											.	NUPL2-228	0			c.G935T						.						64.0	62.0	63.0					7																	23240027		2203	4300	6503	SO:0001583	missense	11097	exon7			GTTTTGGATCACC	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.935G>T	7.37:g.23240027G>T	ENSP00000258742:p.Gly312Val	82	0		167	16	NM_007342	0	0	29	32	3	A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642804	0.47153	.	.	ENSG00000136243	ENST00000258742;ENST00000413919	T;T	0.60548	0.52;0.18	6.06	3.27	0.37495	.	0.265956	0.42172	D	0.000758	T	0.65719	0.2718	L	0.59436	1.845	0.58432	D	0.999999	D	0.58620	0.983	P	0.59825	0.864	T	0.64841	-0.6312	10	0.66056	D	0.02	-1.7152	9.4616	0.38787	0.1309:0.1191:0.75:0.0	.	312	O15504	NUPL2_HUMAN	V	312;337	ENSP00000258742:G312V;ENSP00000401475:G337V	ENSP00000258742:G312V	G	+	2	0	NUPL2	23206552	1.000000	0.71417	0.004000	0.12327	0.398000	0.30690	4.305000	0.59110	0.433000	0.26313	0.655000	0.94253	GGA	.		0.507	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342	
WIPF3	644150	broad.mit.edu	37	7	29923681	29923681	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:29923681C>A	ENST00000409290.1	+	4	571	c.571C>A	c.(571-573)Ccc>Acc	p.P191T	WIPF3_ENST00000409123.1_Missense_Mutation_p.P191T|WIPF3_ENST00000242140.5_Missense_Mutation_p.P191T	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	191	Poly-Pro.				cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						cccgccccttccctcttcctc	0.726																																					p.P191T		.											.	WIPF3-69	0			c.C571A						.						5.0	4.0	4.0					7																	29923681		1112	2588	3700	SO:0001583	missense	644150	exon5			CCCCTTCCCTCTT	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.571C>A	7.37:g.29923681C>A	ENSP00000386878:p.Pro191Thr	11	1		23	8	NM_001080529	0	0	1	1	0	B8ZZV2	Missense_Mutation	SNP	ENST00000409290.1	37	CCDS56472.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853642	0.32791	.	.	ENSG00000122574	ENST00000409123;ENST00000409290;ENST00000242140	T;T;T	0.49720	0.77;0.77;0.77	3.48	3.48	0.39840	.	0.344451	0.22202	N	0.063229	T	0.53206	0.1782	L	0.28458	0.855	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.38001	-0.9681	10	0.59425	D	0.04	.	10.6514	0.45651	0.0:1.0:0.0:0.0	.	191	A6NGB9	WIPF3_HUMAN	T	191	ENSP00000386790:P191T;ENSP00000386878:P191T;ENSP00000242140:P191T	ENSP00000242140:P191T	P	+	1	0	WIPF3	29890206	0.010000	0.17322	0.089000	0.20774	0.065000	0.16274	0.746000	0.26275	1.939000	0.56221	0.448000	0.29417	CCC	.		0.726	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1		
BBS9	27241	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	33423320	33423320	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:33423320T>C	ENST00000242067.6	+	18	2353	c.1832T>C	c.(1831-1833)cTc>cCc	p.L611P	BBS9_ENST00000354265.4_Missense_Mutation_p.L576P|BBS9_ENST00000396127.2_Missense_Mutation_p.L576P|BBS9_ENST00000350941.3_Missense_Mutation_p.L571P|BBS9_ENST00000355070.2_Missense_Mutation_p.L606P	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	611					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GATCTTTGGCTCATAACCAAT	0.338									Bardet-Biedl syndrome																												p.L611P		.											.	BBS9-230	0			c.T1832C						.						72.0	70.0	70.0					7																	33423320		2203	4298	6501	SO:0001583	missense	27241	exon18	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	TTTGGCTCATAAC		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1832T>C	7.37:g.33423320T>C	ENSP00000242067:p.Leu611Pro	54	0		104	15	NM_198428	0	0	8	9	1	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325003	0.81580	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.48978	0.1530	M	0.82323	2.585	0.80722	D	1	P;P;P;P;P	0.41008	0.735;0.735;0.735;0.735;0.735	P;P;P;P;P	0.51550	0.601;0.601;0.601;0.601;0.673	T	0.50849	-0.8779	10	0.56958	D	0.05	-12.0088	16.3604	0.83263	0.0:0.0:0.0:1.0	.	611;571;606;576;611	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	P	611;571;576;606;576;611	ENSP00000242067:L611P;ENSP00000313122:L571P;ENSP00000379433:L576P;ENSP00000347182:L606P;ENSP00000346214:L576P	ENSP00000242067:L611P	L	+	2	0	BBS9	33389845	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.476000	0.81055	2.260000	0.74910	0.528000	0.53228	CTC	.		0.338	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1		
AUTS2	26053	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	70255405	70255405	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:70255405G>T	ENST00000342771.4	+	19	3524	c.3203G>T	c.(3202-3204)tGg>tTg	p.W1068L	AUTS2_ENST00000406775.2_Missense_Mutation_p.W1044L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1068										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TCTTTCCACTGGGACCCCATC	0.622																																					p.W1068L		.											.	AUTS2-92	0			c.G3203T						.						23.0	27.0	25.0					7																	70255405		2201	4300	6501	SO:0001583	missense	26053	exon19			TCCACTGGGACCC	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3203G>T	7.37:g.70255405G>T	ENSP00000344087:p.Trp1068Leu	51	0		76	7	NM_015570	0	0	0	0	0	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398682	0.83120	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.48201	0.82;0.86	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.62986	0.2473	L	0.49778	1.585	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.85130	0.997;0.994;0.994	T	0.62464	-0.6849	9	.	.	.	-13.7225	16.7601	0.85509	0.0:0.0:1.0:0.0	.	520;1044;1068	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	L	1044;1068	ENSP00000385263:W1044L;ENSP00000344087:W1068L	.	W	+	2	0	AUTS2	69893341	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.564000	0.82326	2.041000	0.60428	0.655000	0.94253	TGG	.		0.622	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2		
RHBDD2	57414	broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	75508485	75508485	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:75508485C>A	ENST00000006777.6	+	1	220	c.85C>A	c.(85-87)Ctg>Atg	p.L29M	RHBDD2_ENST00000318622.4_5'UTR|RHBDD2_ENST00000428119.1_5'Flank	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	29						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						GCTGCTCTCGCTGCTGGTTTC	0.697																																					p.L29M		.											.	RHBDD2-90	0			c.C85A						.						9.0	12.0	11.0					7																	75508485		1860	3940	5800	SO:0001583	missense	57414	exon1			CTCTCGCTGCTGG	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.85C>A	7.37:g.75508485C>A	ENSP00000006777:p.Leu29Met	65	1		170	44	NM_001040456	0	0	149	211	62	Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Missense_Mutation	SNP	ENST00000006777.6	37	CCDS43602.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183661	0.78677	.	.	ENSG00000005486	ENST00000006777;ENST00000413229	T	0.12774	2.65	4.87	3.99	0.46301	.	0.000000	0.50627	D	0.000108	T	0.20981	0.0505	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.01935	-1.1244	10	0.59425	D	0.04	-9.2118	9.267	0.37647	0.0:0.9016:0.0:0.0984	.	29	Q6NTF9	RHBD2_HUMAN	M	29;74	ENSP00000006777:L29M	ENSP00000006777:L29M	L	+	1	2	RHBDD2	75346421	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.238000	0.32707	1.412000	0.46977	-0.140000	0.14226	CTG	.		0.697	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684	
MAGI2	9863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	77764344	77764344	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:77764344G>T	ENST00000354212.4	-	17	3278	c.3025C>A	c.(3025-3027)Cag>Aag	p.Q1009K	MAGI2_ENST00000419488.1_Missense_Mutation_p.Q995K|MAGI2_ENST00000522391.1_Missense_Mutation_p.Q1009K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1009	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCACCCTCCTGAGGAATGATG	0.582																																					p.Q1009K		.											.	MAGI2-461	0			c.C3025A						.						174.0	126.0	142.0					7																	77764344		2203	4300	6503	SO:0001583	missense	9863	exon17			CCTCCTGAGGAAT	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3025C>A	7.37:g.77764344G>T	ENSP00000346151:p.Gln1009Lys	132	0		189	45	NM_012301	0	0	0	0	0	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493476	0.64186	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.10382	2.97;2.99;2.88	6.06	6.06	0.98353	PDZ/DHR/GLGF (3);	0.000000	0.35096	U	0.003458	T	0.09247	0.0228	N	0.05306	-0.075	0.80722	D	1	B;B;B	0.32653	0.176;0.26;0.379	B;B;B	0.38056	0.062;0.264;0.104	T	0.43278	-0.9401	10	0.37606	T	0.19	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1009;995;1009	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	K	995;1009;1009;1009	ENSP00000405766:Q995K;ENSP00000346151:Q1009K;ENSP00000428389:Q1009K	ENSP00000346151:Q1009K	Q	-	1	0	MAGI2	77602280	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.322000	0.65852	2.882000	0.98803	0.655000	0.94253	CAG	.		0.582	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301	
MAGI2	9863	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	77814971	77814971	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:77814971C>A	ENST00000354212.4	-	13	2539	c.2286G>T	c.(2284-2286)agG>agT	p.R762S	MAGI2_ENST00000419488.1_Intron|MAGI2_ENST00000522391.1_Missense_Mutation_p.R762S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	762					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GAAAACTGGTCCTGGGTGGCA	0.353																																					p.R762S		.											.	MAGI2-461	0			c.G2286T						.						113.0	112.0	112.0					7																	77814971		2203	4300	6503	SO:0001583	missense	9863	exon13			ACTGGTCCTGGGT	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2286G>T	7.37:g.77814971C>A	ENSP00000346151:p.Arg762Ser	148	0		177	18	NM_012301	0	0	0	0	0	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538397	0.45176	.	.	ENSG00000187391	ENST00000354212;ENST00000536298;ENST00000522391	T;T	0.36520	1.25;1.25	6.02	6.02	0.97574	PDZ/DHR/GLGF (1);	0.000000	0.40728	U	0.001037	T	0.57227	0.2039	L	0.55481	1.735	0.80722	D	1	B;D	0.60160	0.267;0.987	B;D	0.66196	0.059;0.942	T	0.50065	-0.8871	10	0.48119	T	0.1	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	762;762	B7Z4H4;Q86UL8	.;MAGI2_HUMAN	S	762	ENSP00000346151:R762S;ENSP00000428389:R762S	ENSP00000346151:R762S	R	-	3	2	MAGI2	77652907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.677000	0.68142	2.850000	0.98022	0.650000	0.86243	AGG	.		0.353	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301	
GRM3	2913	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	86394717	86394717	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:86394717C>A	ENST00000361669.2	+	2	1355	c.256C>A	c.(256-258)Cta>Ata	p.L86I	GRM3_ENST00000394720.2_Missense_Mutation_p.L84I|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.L86I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	86					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGATTACTTGCTACCAGGAGT	0.428																																					p.L86I	GBM(52;969 1098 3139 52280)	.											.	GRM3-528	0			c.C256A						.						192.0	174.0	180.0					7																	86394717		2203	4300	6503	SO:0001583	missense	2913	exon2			TACTTGCTACCAG		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.256C>A	7.37:g.86394717C>A	ENSP00000355316:p.Leu86Ile	107	0		153	17	NM_000840	0	0	0	0	0	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087907	0.76642	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720;ENST00000421579	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.24	4.32	0.51571	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89962	0.6867	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;1.0	D	0.91509	0.5225	10	0.87932	D	0	.	11.2117	0.48802	0.0:0.906:0.0:0.094	.	86;86	G5E9K2;Q14832	.;GRM3_HUMAN	I	86;86;84;86	ENSP00000355316:L86I;ENSP00000398767:L86I;ENSP00000378209:L84I;ENSP00000390037:L86I	ENSP00000355316:L86I	L	+	1	2	GRM3	86232653	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	3.951000	0.56684	1.378000	0.46305	0.655000	0.94253	CTA	.		0.428	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2		
ABCB4	5244	broad.mit.edu;bcgsc.ca	37	7	87069022	87069022	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:87069022G>T	ENST00000265723.4	-	14	1803	c.1692C>A	c.(1690-1692)gaC>gaA	p.D564E	ABCB4_ENST00000358400.3_Missense_Mutation_p.D564E|ABCB4_ENST00000359206.3_Missense_Mutation_p.D564E|ABCB4_ENST00000545634.1_Missense_Mutation_p.D564E|ABCB4_ENST00000453593.1_Missense_Mutation_p.D564E	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	564	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		D -> G (in PFIC3). {ECO:0000269|PubMed:11313315}.		cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CACTTTCTGTGTCCAATGCTG	0.522																																					p.D564E		.											.	ABCB4-96	0			c.C1692A						.						150.0	132.0	138.0					7																	87069022		2203	4300	6503	SO:0001583	missense	5244	exon14			TTCTGTGTCCAAT	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1692C>A	7.37:g.87069022G>T	ENSP00000265723:p.Asp564Glu	123	1		125	5	NM_018850	0	0	1	1	0	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.908242	0.72868	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79	5.55	4.48	0.54585	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.98286	0.9432	H	0.98407	4.225	0.58432	D	0.999999	D;D;P	0.76494	0.999;0.963;0.938	D;D;P	0.79108	0.992;0.934;0.86	D	0.97810	1.0250	10	0.87932	D	0	-19.01	6.4396	0.21843	0.2621:0.0:0.7379:0.0	.	564;564;564	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	E	564	ENSP00000352135:D564E;ENSP00000351172:D564E;ENSP00000265723:D564E;ENSP00000392983:D564E;ENSP00000437465:D564E	ENSP00000265723:D564E	D	-	3	2	ABCB4	86906958	1.000000	0.71417	0.996000	0.52242	0.900000	0.52787	2.098000	0.41757	2.594000	0.87642	0.655000	0.94253	GAC	.		0.522	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
GTPBP10	85865	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	90003657	90003657	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:90003657G>T	ENST00000222511.6	+	6	646	c.580G>T	c.(580-582)Gat>Tat	p.D194Y	GTPBP10_ENST00000257659.8_Missense_Mutation_p.D115Y	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	194	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AATGTACAGTGATTTCAAACA	0.313																																					p.D194Y		.											.	GTPBP10-68	0			c.G580T						.						75.0	78.0	77.0					7																	90003657		2203	4292	6495	SO:0001583	missense	85865	exon6			TACAGTGATTTCA		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.580G>T	7.37:g.90003657G>T	ENSP00000222511:p.Asp194Tyr	57	0		69	15	NM_033107	0	0	0	0	0	B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	ENST00000222511.6	37	CCDS5617.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699353	0.68501	.	.	ENSG00000105793	ENST00000426366;ENST00000450619;ENST00000257659;ENST00000222511;ENST00000417207	T;T;T;T;T	0.22134	2.16;2.16;1.97;1.97;1.97	5.79	5.79	0.91817	GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	M	0.83953	2.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.995;0.995;0.999	T	0.51949	-0.8640	9	.	.	.	-12.0059	18.2084	0.89863	0.0:0.0:1.0:0.0	.	115;194;185;211	A4D1E9-2;A4D1E9;C9J8R7;C9JNI1	.;GTPBA_HUMAN;.;.	Y	185;211;115;194;121	ENSP00000405697:D185Y;ENSP00000389510:D211Y;ENSP00000257659:D115Y;ENSP00000222511:D194Y;ENSP00000416596:D121Y	.	D	+	1	0	GTPBP10	89841593	1.000000	0.71417	0.962000	0.40283	0.573000	0.36030	8.355000	0.90083	2.733000	0.93635	0.655000	0.94253	GAT	.		0.313	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107	
LRRD1	401387	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	91792948	91792948	+	Silent	SNP	G	G	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:91792948G>A	ENST00000458448.1	-	2	1769	c.1569C>T	c.(1567-1569)ctC>ctT	p.L523L	LRRD1_ENST00000422722.1_Intron|LRRD1_ENST00000454089.2_5'UTR|CTB-161K23.1_ENST00000453068.1_RNA|LRRD1_ENST00000343318.5_Intron|LRRD1_ENST00000430130.2_Silent_p.L523L			A4D1F6	LRRD1_HUMAN	leucine-rich repeats and death domain containing 1	523					signal transduction (GO:0007165)					breast(4)|endometrium(1)	5						CAGAAAATATGAGGAGTTTGT	0.274																																					p.L523L		.											.	.	0			c.C1569T						.						26.0	22.0	23.0					7																	91792948		692	1567	2259	SO:0001819	synonymous_variant	401387	exon1			AAATATGAGGAGT	BC026112	CCDS55124.1	7q21.2	2011-05-23			ENSG00000240720	ENSG00000240720			34300	protein-coding gene	gene with protein product							Standard	NM_001161528		Approved	IMAGE:4798971	uc011khp.1	A4D1F6	OTTHUMG00000155861	ENST00000458448.1:c.1569C>T	7.37:g.91792948G>A		41	0		92	7	NM_001161528	0	0	0	0	0	B7ZMM9|Q49AT9	Silent	SNP	ENST00000458448.1	37	CCDS55124.1																																																																																			.		0.274	LRRD1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342027.2	NM_001045475	
LRRD1	401387	ucsc.edu	37	7	91793876	91793876	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:91793876C>A	ENST00000458448.1	-	2	841	c.641G>T	c.(640-642)aGg>aTg	p.R214M	LRRD1_ENST00000422722.1_Intron|LRRD1_ENST00000454089.2_De_novo_Start_InFrame|CTB-161K23.1_ENST00000453068.1_RNA|LRRD1_ENST00000343318.5_Intron|LRRD1_ENST00000430130.2_Missense_Mutation_p.R214M			A4D1F6	LRRD1_HUMAN	leucine-rich repeats and death domain containing 1	214					signal transduction (GO:0007165)					breast(4)|endometrium(1)	5						ATTTAATATCCTTAAATTATG	0.328																																					p.R214M		.											.	.	0			c.G641T						.						29.0	24.0	26.0					7																	91793876		692	1584	2276	SO:0001583	missense	401387	exon1			AATATCCTTAAAT	BC026112	CCDS55124.1	7q21.2	2011-05-23			ENSG00000240720	ENSG00000240720			34300	protein-coding gene	gene with protein product							Standard	NM_001161528		Approved	IMAGE:4798971	uc011khp.1	A4D1F6	OTTHUMG00000155861	ENST00000458448.1:c.641G>T	7.37:g.91793876C>A	ENSP00000405987:p.Arg214Met	130	2		168	26	NM_001161528	0	0	0	0	0	B7ZMM9|Q49AT9	Missense_Mutation	SNP	ENST00000458448.1	37	CCDS55124.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689229	0.48097	.	.	ENSG00000240720	ENST00000458448;ENST00000430130	T;T	0.11712	2.75;2.75	5.91	-0.443	0.12249	.	.	.	.	.	T	0.19725	0.0474	L	0.59912	1.85	0.53688	D	0.999972	D	0.61080	0.989	P	0.60173	0.87	T	0.01839	-1.1263	9	0.62326	D	0.03	.	7.056	0.25099	0.0:0.3356:0.1978:0.4667	.	214	A4D1F6	LRRD1_HUMAN	M	214	ENSP00000405987:R214M;ENSP00000411568:R214M	ENSP00000411568:R214M	R	-	2	0	LRRD1	91631812	0.011000	0.17503	0.964000	0.40570	0.996000	0.88848	-0.484000	0.06528	-0.392000	0.07751	0.650000	0.86243	AGG	.		0.328	LRRD1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342027.2	NM_001045475	
KRIT1	889	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	91864777	91864777	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:91864777C>A	ENST00000340022.2	-	8	1687	c.669G>T	c.(667-669)gaG>gaT	p.E223D	KRIT1_ENST00000394503.2_Missense_Mutation_p.E223D|KRIT1_ENST00000394507.1_Missense_Mutation_p.E223D|KRIT1_ENST00000412043.2_Missense_Mutation_p.E223D|KRIT1_ENST00000394505.2_Missense_Mutation_p.E223D	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	223					angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATCTGCTTTCTCTAGGGCTA	0.358																																					p.E223D		.											.	KRIT1-132	0			c.G669T						.						189.0	193.0	191.0					7																	91864777		2203	4300	6503	SO:0001583	missense	889	exon9			TGCTTTCTCTAGG	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.669G>T	7.37:g.91864777C>A	ENSP00000344668:p.Glu223Asp	74	0		99	13	NM_194456	0	0	6	8	2	A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365697	0.61513	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177	T;T;T;T;T;D	0.89617	0.68;0.68;0.68;0.68;-0.86;-2.54	5.21	1.98	0.26296	.	0.000000	0.85682	D	0.000000	D	0.89406	0.6706	L	0.40543	1.245	0.53005	D	0.999962	D;P;D	0.58268	0.982;0.951;0.982	D;P;D	0.67548	0.952;0.525;0.952	D	0.85628	0.1268	10	0.30078	T	0.28	-5.0342	10.2575	0.43405	0.0:0.715:0.0:0.285	.	223;223;223	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	D	223	ENSP00000378015:E223D;ENSP00000344668:E223D;ENSP00000410909:E223D;ENSP00000378013:E223D;ENSP00000378011:E223D;ENSP00000391675:E223D	ENSP00000344668:E223D	E	-	3	2	KRIT1	91702713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.024000	0.41049	0.586000	0.29626	0.460000	0.39030	GAG	.		0.358	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1		
PTCD1	26024	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	99023158	99023158	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:99023158C>A	ENST00000292478.4	-	6	1247	c.997G>T	c.(997-999)Ggc>Tgc	p.G333C	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.G382C|PTCD1_ENST00000555673.1_Missense_Mutation_p.G382C	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	333					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCCTAGGCCACAGTCCCGA	0.647																																					p.G382C		.											.	.	0			c.G1144T						.						22.0	24.0	23.0					7																	99023158		2202	4298	6500	SO:0001583	missense	100526740	exon7			CTAGGCCACAGTC	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.997G>T	7.37:g.99023158C>A	ENSP00000292478:p.Gly333Cys	78	0		94	25	NM_001198879	0	0	4	5	1	Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848530	0.71603	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	T;T;T	0.71341	-0.56;-0.5;-0.5	5.84	4.95	0.65309	.	0.091728	0.85682	D	0.000000	D	0.85199	0.5642	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.87294	0.2301	10	0.59425	D	0.04	-26.2041	14.8048	0.69945	0.0:0.9308:0.0:0.0692	.	382;333	G3V325;O75127	.;PTCD1_HUMAN	C	333;115;382;382	ENSP00000292478:G333C;ENSP00000450995:G382C;ENSP00000400168:G382C	ENSP00000400168:G382C	G	-	1	0	ATP5J2-PTCD1;PTCD1	98861094	1.000000	0.71417	0.997000	0.53966	0.629000	0.37895	4.971000	0.63749	1.468000	0.48064	0.561000	0.74099	GGC	.		0.647	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545	
PVRIG	79037	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	99817600	99817600	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:99817600C>A	ENST00000317271.2	+	2	430	c.67C>A	c.(67-69)Cac>Aac	p.H23N	GATS_ENST00000543273.1_RNA|AC005071.1_ENST00000410550.1_RNA|GATS_ENST00000436886.2_Intron	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	23						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCATGGGGCACCGGACCCT	0.647																																					p.H23N		.											.	PVRIG-24	0			c.C67A						.						25.0	24.0	24.0					7																	99817600		2201	4297	6498	SO:0001583	missense	79037	exon2			ATGGGGCACCGGA	BC001129	CCDS5690.1	7q22.1	2013-06-26			ENSG00000213413	ENSG00000213413			32190	protein-coding gene	gene with protein product						16926269	Standard	NM_024070		Approved	MGC2463, C7orf15	uc003uuf.1	Q6DKI7	OTTHUMG00000156798	ENST00000317271.2:c.67C>A	7.37:g.99817600C>A	ENSP00000316675:p.His23Asn	231	1		309	76	NM_024070	0	0	2	3	1	D6W5U9|Q9BVK3	Missense_Mutation	SNP	ENST00000317271.2	37	CCDS5690.1	.	.	.	.	.	.	.	.	.	.	c	7.083	0.570548	0.13560	.	.	ENSG00000213413	ENST00000317271	T	0.48836	0.8	2.36	0.208	0.15221	.	.	.	.	.	T	0.23806	0.0576	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.17653	-1.0362	9	0.51188	T	0.08	.	4.285	0.10850	0.2623:0.4805:0.2572:0.0	.	23	Q6DKI7	PVRIG_HUMAN	N	23	ENSP00000316675:H23N	ENSP00000316675:H23N	H	+	1	0	PVRIG	99655536	0.000000	0.05858	0.002000	0.10522	0.024000	0.10985	-0.387000	0.07361	0.057000	0.16193	0.423000	0.28283	CAC	.		0.647	PVRIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345870.2	NM_024070	
MUC17	140453	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	100674469	100674469	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:100674469C>A	ENST00000306151.4	+	2	215	c.151C>A	c.(151-153)Cag>Aag	p.Q51K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	51					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTGAACCGTCAGTGCCAGCA	0.562																																					p.Q51K		.											.	MUC17-95	0			c.C151A						.						194.0	160.0	171.0					7																	100674469		2203	4300	6503	SO:0001583	missense	140453	exon2			AACCGTCAGTGCC	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.151C>A	7.37:g.100674469C>A	ENSP00000302716:p.Gln51Lys	196	1		265	72	NM_001040105	0	0	0	0	0	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	5.489	0.275178	0.10403	.	.	ENSG00000169876	ENST00000306151	T	0.02197	4.4	1.9	1.9	0.25705	.	.	.	.	.	T	0.01870	0.0059	N	0.08118	0	0.09310	N	1	P	0.43392	0.805	P	0.47134	0.539	T	0.53878	-0.8376	9	0.22109	T	0.4	.	7.3807	0.26854	0.0:1.0:0.0:0.0	.	51	Q685J3	MUC17_HUMAN	K	51	ENSP00000302716:Q51K	ENSP00000302716:Q51K	Q	+	1	0	MUC17	100461189	0.000000	0.05858	0.065000	0.19835	0.029000	0.11900	-0.033000	0.12246	1.385000	0.46445	0.502000	0.49764	CAG	.		0.562	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
MUC17	140453	ucsc.edu;bcgsc.ca	37	7	100681947	100681947	+	Missense_Mutation	SNP	A	A	T	rs139220229		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:100681947A>T	ENST00000306151.4	+	3	7314	c.7250A>T	c.(7249-7251)cAt>cTt	p.H2417L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2417	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTAGCACCCATTCCACAACT	0.507																																					p.H2417L		.											.	MUC17-95	0			c.A7250T						.						386.0	369.0	375.0					7																	100681947		2203	4300	6503	SO:0001583	missense	140453	exon3			GCACCCATTCCAC	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7250A>T	7.37:g.100681947A>T	ENSP00000302716:p.His2417Leu	182	3		251	84	NM_001040105	0	0	0	0	0	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	1.961	-0.438892	0.04636	.	.	ENSG00000169876	ENST00000306151	T	0.02472	4.28	1.43	0.404	0.16355	.	.	.	.	.	T	0.00998	0.0033	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47774	-0.9091	9	0.11485	T	0.65	.	3.3547	0.07164	0.245:0.5788:0.0:0.1763	.	2417	Q685J3	MUC17_HUMAN	L	2417	ENSP00000302716:H2417L	ENSP00000302716:H2417L	H	+	2	0	MUC17	100468667	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.019000	0.13444	-0.658000	0.05366	-1.625000	0.00788	CAT	A|0.999;T|0.001		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
RELN	5649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	103180836	103180836	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:103180836C>A	ENST00000428762.1	-	44	6897	c.6738G>T	c.(6736-6738)gtG>gtT	p.V2246V	RELN_ENST00000424685.2_Silent_p.V2246V|RELN_ENST00000343529.5_Silent_p.V2246V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2246					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTGTAGGAGCACGGGTTGAC	0.488																																					p.V2246V	NSCLC(146;835 1944 15585 22231 52158)	.											.	RELN-574	0			c.G6738T						.						113.0	109.0	110.0					7																	103180836		2203	4300	6503	SO:0001819	synonymous_variant	5649	exon44			TAGGAGCACGGGT		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6738G>T	7.37:g.103180836C>A		55	0		107	37	NM_173054	0	0	0	0	0	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	CCDS47680.1																																																																																			.		0.488	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
RELN	5649	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	103243894	103243894	+	Missense_Mutation	SNP	C	C	G	rs114389730	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:103243894C>G	ENST00000428762.1	-	24	3349	c.3190G>C	c.(3190-3192)Gcc>Ccc	p.A1064P	RELN_ENST00000424685.2_Missense_Mutation_p.A1064P|RELN_ENST00000343529.5_Missense_Mutation_p.A1064P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1064					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GACGGAAGGGCAGCTTCTGGG	0.517																																					p.A1064P	NSCLC(146;835 1944 15585 22231 52158)	.											.	RELN-574	0			c.G3190C						.						96.0	92.0	93.0					7																	103243894		2203	4300	6503	SO:0001583	missense	5649	exon24			GAAGGGCAGCTTC		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3190G>C	7.37:g.103243894C>G	ENSP00000392423:p.Ala1064Pro	115	1		137	43	NM_173054	0	0	0	0	0	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	1.373	-0.585463	0.03827	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22539	2.06;1.95;2.02	5.45	1.18	0.20946	.	0.277274	0.37012	N	0.002292	T	0.03608	0.0103	N	0.00583	-1.355	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.32771	-0.9894	10	0.11794	T	0.64	.	0.6531	0.00830	0.2308:0.3108:0.1174:0.3409	.	1064;1064	P78509-2;P78509	.;RELN_HUMAN	P	1064	ENSP00000392423:A1064P;ENSP00000345694:A1064P;ENSP00000388446:A1064P	ENSP00000345694:A1064P	A	-	1	0	RELN	103031130	0.215000	0.23574	0.393000	0.26258	0.932000	0.56968	0.665000	0.25083	0.276000	0.22118	0.655000	0.94253	GCC	C|0.998;T|0.002		0.517	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
ZNF277	11179	ucsc.edu	37	7	111927088	111927088	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:111927088G>T	ENST00000361822.3	+	2	381	c.252G>T	c.(250-252)aaG>aaT	p.K84N	ZNF277_ENST00000421043.1_Missense_Mutation_p.K84N|ZNF277_ENST00000450657.1_Missense_Mutation_p.K84N|RN7SKP187_ENST00000365536.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	84					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TTGAGCATAAGATTGTCATAG	0.378																																					p.K84N		.											.	ZNF277-155	0			c.G252T						.						171.0	167.0	168.0					7																	111927088		2203	4300	6503	SO:0001583	missense	11179	exon2			GCATAAGATTGTC	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.252G>T	7.37:g.111927088G>T	ENSP00000354501:p.Lys84Asn	118	4		178	21	NM_021994	0	0	6	6	0	Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	ENST00000361822.3	37	CCDS5755.2	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734598	0.69189	.	.	ENSG00000198839	ENST00000361822;ENST00000421043;ENST00000425229;ENST00000450657	T;T;T	0.44083	0.93;0.93;0.93	5.87	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.60508	0.2274	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.983	T	0.61797	-0.6989	10	0.87932	D	0	-22.8303	9.695	0.40152	0.2107:0.0:0.7893:0.0	.	84;84	Q9NRM2;G5E9M4	ZN277_HUMAN;.	N	84	ENSP00000354501:K84N;ENSP00000390359:K84N;ENSP00000402292:K84N	ENSP00000354501:K84N	K	+	3	2	ZNF277	111714324	1.000000	0.71417	0.971000	0.41717	0.991000	0.79684	3.660000	0.54496	0.825000	0.34637	0.650000	0.86243	AAG	.		0.378	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994	
IFRD1	3475	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	112090794	112090794	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:112090794C>A	ENST00000403825.3	+	1	312	c.51C>A	c.(49-51)ggC>ggA	p.G17G	IFRD1_ENST00000005558.4_Silent_p.G17G|IFRD1_ENST00000535603.1_5'Flank|IFRD1_ENST00000429071.1_Silent_p.G17G	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	17	Poly-Gly.				adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						gcagtgctggcggcggcgggt	0.701																																					p.G17G		.											.	IFRD1-91	0			c.C51A						.						17.0	20.0	19.0					7																	112090794		2050	4051	6101	SO:0001819	synonymous_variant	3475	exon2			TGCTGGCGGCGGC	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.51C>A	7.37:g.112090794C>A		97	0		283	42	NM_001007245	0	0	8	13	5	B7Z5G1|O75234|Q5U013|Q9BVE4	Silent	SNP	ENST00000403825.3	37	CCDS34736.1																																																																																			.		0.701	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550	
TFEC	22797	ucsc.edu;bcgsc.ca	37	7	115580883	115580883	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:115580883G>T	ENST00000265440.7	-	8	946	c.766C>A	c.(766-768)Cag>Aag	p.Q256K	TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Missense_Mutation_p.Q227K|TFEC_ENST00000457268.1_Missense_Mutation_p.Q189K	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	256					cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ACTGAATTCTGCTCAGGATGG	0.483																																					p.Q256K		.											.	TFEC-153	0			c.C766A						.						144.0	143.0	144.0					7																	115580883		2203	4300	6503	SO:0001583	missense	22797	exon8			AATTCTGCTCAGG	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.766C>A	7.37:g.115580883G>T	ENSP00000265440:p.Gln256Lys	199	2		239	25	NM_012252	0	0	0	0	0	B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239731	0.39598	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239	T;T;T	0.63255	-0.03;-0.03;-0.03	4.89	2.8	0.32819	.	0.700136	0.14573	N	0.311345	T	0.37237	0.0996	N	0.12182	0.205	0.30377	N	0.782339	B;B	0.15141	0.012;0.003	B;B	0.13407	0.009;0.003	T	0.29971	-0.9994	10	0.09590	T	0.72	-2.365	7.8095	0.29221	0.0:0.4187:0.4504:0.1308	.	227;256	O14948-2;O14948	.;TFEC_HUMAN	K	256;189;227	ENSP00000265440:Q256K;ENSP00000387650:Q189K;ENSP00000318676:Q227K	ENSP00000265440:Q256K	Q	-	1	0	TFEC	115368119	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	4.081000	0.57627	1.119000	0.41883	0.650000	0.86243	CAG	.		0.483	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252	
IQUB	154865	bcgsc.ca	37	7	123109376	123109376	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:123109376G>T	ENST00000466202.1	-	9	2049	c.1473C>A	c.(1471-1473)ttC>ttA	p.F491L	IQUB_ENST00000324698.6_Missense_Mutation_p.F491L|IQUB_ENST00000434450.1_Missense_Mutation_p.F491L	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	491					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CTCTGATGGTGAACTGCGTAT	0.348																																					p.F491L		.											.	IQUB-156	0			c.C1473A						.						147.0	136.0	140.0					7																	123109376		2203	4300	6503	SO:0001583	missense	154865	exon9			GATGGTGAACTGC	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1473C>A	7.37:g.123109376G>T	ENSP00000417769:p.Phe491Leu	99	4		114	42	NM_178827	0	0	0	0	0	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081402	0.76528	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.45668	1.9;1.9;0.89	5.61	1.31	0.21738	.	0.231325	0.45361	D	0.000363	T	0.46964	0.1420	M	0.65498	2.005	0.36305	D	0.857255	D;P	0.53151	0.958;0.932	P;B	0.51657	0.676;0.392	T	0.53995	-0.8359	10	0.20046	T	0.44	.	11.6559	0.51318	0.2791:0.0:0.7209:0.0	.	491;491	Q8NA54-2;Q8NA54	.;IQUB_HUMAN	L	491	ENSP00000417769:F491L;ENSP00000324882:F491L;ENSP00000388498:F491L	ENSP00000324882:F491L	F	-	3	2	IQUB	122896612	0.990000	0.36364	1.000000	0.80357	0.994000	0.84299	0.816000	0.27267	0.347000	0.23924	0.637000	0.83480	TTC	.		0.348	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827	
POT1	25913	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	124491967	124491967	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:124491967G>T	ENST00000357628.3	-	11	1506	c.908C>A	c.(907-909)tCa>tAa	p.S303*	POT1_ENST00000393329.1_Nonsense_Mutation_p.S172*	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	303					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GATAACATCTGAATGCTGATT	0.294																																					p.S303X	Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	.											.	POT1-227	0			c.C908A						.						68.0	65.0	66.0					7																	124491967		2203	4296	6499	SO:0001587	stop_gained	25913	exon11			ACATCTGAATGCT	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.908C>A	7.37:g.124491967G>T	ENSP00000350249:p.Ser303*	151	0		185	47	NM_015450	0	0	4	5	1	O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Nonsense_Mutation	SNP	ENST00000357628.3	37	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	G	43	10.068834	0.99330	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	.	.	.	5.44	-0.0443	0.13855	.	1.084120	0.06989	N	0.821338	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	4.6803	8.8245	0.35047	0.5177:0.0:0.4823:0.0	.	.	.	.	X	303;172;303;303;303;302	.	ENSP00000265391:S302X	S	-	2	0	POT1	124279203	0.001000	0.12720	0.000000	0.03702	0.477000	0.33069	0.440000	0.21592	0.020000	0.15106	0.585000	0.79938	TCA	.		0.294	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1		
GRM8	2918	broad.mit.edu;ucsc.edu	37	7	126410002	126410002	+	Missense_Mutation	SNP	G	G	T	rs376815449		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:126410002G>T	ENST00000339582.2	-	7	2082	c.1274C>A	c.(1273-1275)cCt>cAt	p.P425H	GRM8_ENST00000444921.2_Missense_Mutation_p.P425H|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.P425H|GRM8_ENST00000358373.3_Missense_Mutation_p.P425H			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	425					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.P425H(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AATGTATCCAGGGCAGAGATC	0.418										HNSCC(24;0.065)																											p.P425H		.											.	GRM8-581	2	Substitution - Missense(2)	lung(2)	c.C1274A						.	G	HIS/PRO,HIS/PRO	1,4405	2.1+/-5.4	0,1,2202	143.0	128.0	133.0		1274,1274	5.9	1.0	7		133	0,8600		0,0,4300	no	missense,missense	GRM8	NM_000845.2,NM_001127323.1	77,77	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	425/909,425/909	126410002	1,13005	2203	4300	6503	SO:0001583	missense	2918	exon6			TATCCAGGGCAGA		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1274C>A	7.37:g.126410002G>T	ENSP00000344173:p.Pro425His	140	2		138	22	NM_000845	0	0	0	0	0	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415205	0.62511	2.27E-4	0.0	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.254326	0.40640	N	0.001045	D	0.92090	0.7493	M	0.79123	2.44	0.42205	D	0.991783	P;B;B	0.48294	0.908;0.374;0.146	P;B;B	0.53490	0.727;0.105;0.142	D	0.92668	0.6147	10	0.87932	D	0	.	19.2147	0.93772	0.0:0.0:1.0:0.0	.	425;425;425	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	H	425	ENSP00000344173:P425H;ENSP00000409790:P425H;ENSP00000351142:P425H;ENSP00000385731:P425H	ENSP00000344173:P425H	P	-	2	0	GRM8	126197238	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	4.571000	0.60879	2.769000	0.95229	0.655000	0.94253	CCT	.		0.418	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
SND1	27044	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	127631020	127631020	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:127631020G>T	ENST00000354725.3	+	16	1884	c.1690G>T	c.(1690-1692)Gcc>Tcc	p.A564S	SND1_ENST00000467238.1_3'UTR	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	564	TNase-like 4. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCCCAGAGGAGCCCGAAACCT	0.542																																					p.A564S		.											.	SND1-92	0			c.G1690T						.						73.0	63.0	66.0					7																	127631020		2203	4300	6503	SO:0001583	missense	27044	exon16			AGAGGAGCCCGAA		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1690G>T	7.37:g.127631020G>T	ENSP00000346762:p.Ala564Ser	80	0		109	33	NM_014390	0	0	64	94	30	Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	6.773	0.511507	0.12944	.	.	ENSG00000197157	ENST00000354725;ENST00000438400;ENST00000486037	T;T	0.28666	1.6;1.6	5.54	5.54	0.83059	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.501198	0.24534	N	0.037698	T	0.14700	0.0355	N	0.05280	-0.08	0.45216	D	0.998221	B	0.02656	0.0	B	0.08055	0.003	T	0.15867	-1.0422	10	0.12430	T	0.62	-8.4123	12.292	0.54823	0.0:0.0:0.8306:0.1694	.	564	Q7KZF4	SND1_HUMAN	S	564;554;113	ENSP00000346762:A564S;ENSP00000419327:A113S	ENSP00000346762:A564S	A	+	1	0	SND1	127418256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.301000	0.51842	2.754000	0.94517	0.655000	0.94253	GCC	.		0.542	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390	
PLXNA4	91584	broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	131872275	131872275	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:131872275C>A	ENST00000359827.3	-	15	3910	c.2948G>T	c.(2947-2949)aGc>aTc	p.S983I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S983I			Q9HCM2	PLXA4_HUMAN	plexin A4	983	IPT/TIG 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACCACGTTGCTTCCGGCATT	0.562																																					p.S983I		.											.	PLXNA4-91	0			c.G2948T						.						208.0	224.0	218.0					7																	131872275		2108	4247	6355	SO:0001583	missense	91584	exon15			ACGTTGCTTCCGG	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2948G>T	7.37:g.131872275C>A	ENSP00000352882:p.Ser983Ile	91	2		116	26	NM_020911	0	0	0	0	0	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237003	0.95240	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.78003	-1.14;-1.14	5.54	5.54	0.83059	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88872	0.6555	M	0.82823	2.61	0.80722	D	1	D	0.54207	0.965	D	0.63877	0.919	D	0.89933	0.4067	10	0.87932	D	0	.	19.4761	0.94989	0.0:1.0:0.0:0.0	.	983	Q9HCM2	PLXA4_HUMAN	I	983	ENSP00000323194:S983I;ENSP00000352882:S983I	ENSP00000323194:S983I	S	-	2	0	PLXNA4	131522815	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.461000	0.80834	2.615000	0.88500	0.555000	0.69702	AGC	.		0.562	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
PARP12	64761	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	139727101	139727101	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:139727101G>T	ENST00000263549.3	-	10	2476	c.1603C>A	c.(1603-1605)Ctg>Atg	p.L535M		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	535	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CAGAGGGCCAGGTTCTGTACT	0.552																																					p.L535M		.											.	PARP12-525	0			c.C1603A						.						94.0	84.0	87.0					7																	139727101		2203	4300	6503	SO:0001583	missense	64761	exon10			GGGCCAGGTTCTG	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1603C>A	7.37:g.139727101G>T	ENSP00000263549:p.Leu535Met	169	0		184	46	NM_022750	0	0	10	17	7	Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.388550	0.42308	.	.	ENSG00000059378	ENST00000263549	T	0.13901	2.55	5.6	1.52	0.23074	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.195477	0.44902	N	0.000420	T	0.09905	0.0243	L	0.35542	1.07	0.26952	N	0.966005	B	0.21225	0.053	B	0.28991	0.097	T	0.28554	-1.0040	10	0.28530	T	0.3	.	6.8883	0.24214	0.0651:0.2351:0.5782:0.1216	.	535	Q9H0J9	PAR12_HUMAN	M	535	ENSP00000263549:L535M	ENSP00000263549:L535M	L	-	1	2	PARP12	139373570	0.944000	0.32072	1.000000	0.80357	0.996000	0.88848	1.020000	0.30027	0.304000	0.22809	0.655000	0.94253	CTG	.		0.552	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750	
TAS2R4	50832	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	141478815	141478815	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:141478815C>A	ENST00000247881.2	+	1	574	c.527C>A	c.(526-528)tCt>tAt	p.S176Y	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	176					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		GGCATCTTGTCTTTAGTGGTT	0.418																																					p.S176Y		.											.	TAS2R4-90	0			c.C527A						.						253.0	249.0	251.0					7																	141478815		2203	4300	6503	SO:0001583	missense	50832	exon1			TCTTGTCTTTAGT	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.527C>A	7.37:g.141478815C>A	ENSP00000247881:p.Ser176Tyr	135	1		202	23	NM_016944	0	0	0	0	0	Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	c	6.424	0.446380	0.12223	.	.	ENSG00000127364	ENST00000247881	T	0.28895	1.59	5.31	0.00804	0.14073	.	0.838765	0.10689	N	0.645469	T	0.37237	0.0996	M	0.76574	2.34	0.09310	N	1	B	0.29270	0.24	B	0.40702	0.338	T	0.50294	-0.8845	10	0.72032	D	0.01	.	4.1362	0.10172	0.0:0.4432:0.1694:0.3873	.	176	Q9NYW5	TA2R4_HUMAN	Y	176	ENSP00000247881:S176Y	ENSP00000247881:S176Y	S	+	2	0	TAS2R4	141125284	0.000000	0.05858	0.002000	0.10522	0.046000	0.14306	-1.629000	0.02029	0.101000	0.17610	0.632000	0.83419	TCT	.		0.418	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1		
EPHA1	2041	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	143098540	143098540	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:143098540C>A	ENST00000275815.3	-	3	395	c.309G>T	c.(307-309)gtG>gtT	p.V103V		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	103	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TGCAGTCCCGCACGGTGAACT	0.607																																					p.V103V		.											.	EPHA1-1436	0			c.G309T						.						118.0	121.0	120.0					7																	143098540		2203	4300	6503	SO:0001819	synonymous_variant	2041	exon3			GTCCCGCACGGTG	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.309G>T	7.37:g.143098540C>A		134	1		170	20	NM_005232	0	0	0	0	0	A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	CCDS5884.1																																																																																			.		0.607	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1		
ZNF212	7988	hgsc.bcm.edu	37	7	148936892	148936892	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:148936892G>T	ENST00000335870.2	+	1	151	c.23G>T	c.(22-24)cGg>cTg	p.R8L		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GCGCCTGCTCGGGTAAAGAGG	0.746																																					p.R8L		.											.	ZNF212-91	0			c.G23T						.						8.0	11.0	10.0					7																	148936892		2115	4164	6279	SO:0001630	splice_region_variant	7988	exon1			CTGCTCGGGTAAA	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.24+1G>T	7.37:g.148936892G>T		4	0		56	18	NM_012256	0	0	0	0	0	B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	ENST00000335870.2	37	CCDS5896.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848454	0.51164	.	.	ENSG00000170260	ENST00000335870	T	0.07444	3.19	4.51	3.56	0.40772	.	0.637157	0.13256	N	0.401662	T	0.04318	0.0119	N	0.14661	0.345	0.37411	D	0.913224	P	0.43024	0.798	B	0.34489	0.184	T	0.50651	-0.8803	10	0.23891	T	0.37	-8.0589	9.9499	0.41631	0.0:0.2065:0.7935:0.0	.	8	Q9UDV6	ZN212_HUMAN	L	8	ENSP00000338572:R8L	ENSP00000338572:R8L	R	+	2	0	ZNF212	148567825	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	1.826000	0.39092	2.484000	0.83849	0.655000	0.94253	CGG	.		0.746	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256	Missense_Mutation
SSPO	23145	hgsc.bcm.edu;broad.mit.edu	37	7	149499235	149499235	+	RNA	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:149499235G>T	ENST00000378016.2	+	0	7603							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTGCCAGGGGGCAGCTGCCC	0.692																																					p.G2535C		.											.	.	0			c.G7603T						.						4.0	6.0	5.0					7																	149499235		1777	3756	5533			23145	exon51			CCAGGGGGCAGCT	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149499235G>T		23	0		68	5	NM_198455	0	0	0	0	0	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				.		0.692	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
SSPO	23145	broad.mit.edu;bcgsc.ca	37	7	149503951	149503951	+	RNA	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:149503951C>A	ENST00000378016.2	+	0	8775							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCGCCCCCGGCTGCACCTGCC	0.657																																					p.G2925G		.											.	.	0			c.C8775A						.						22.0	31.0	28.0					7																	149503951		1916	4112	6028			23145	exon60			CCCCGGCTGCACC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149503951C>A		66	1		116	35	NM_198455	0	0	0	0	0	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																				.		0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
KMT2C	58508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	151879463	151879463	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:151879463C>A	ENST00000262189.6	-	36	5700	c.5482G>T	c.(5482-5484)Gaa>Taa	p.E1828*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.E1828*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1828					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GTAAACAGTTCTTTATGGAAT	0.498																																					p.E1828X		.											.	MLL3-1398	0			c.G5482T						.						228.0	218.0	221.0					7																	151879463		2203	4300	6503	SO:0001587	stop_gained	58508	exon36			ACAGTTCTTTATG	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5482G>T	7.37:g.151879463C>A	ENSP00000262189:p.Glu1828*	142	0		158	41	NM_170606	0	0	1	2	1	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	47	13.007691	0.99713	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.09	5.09	0.68999	.	0.286203	0.23680	N	0.045622	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	17.4934	0.87711	0.0:1.0:0.0:0.0	.	.	.	.	X	1828	.	ENSP00000262189:E1828X	E	-	1	0	MLL3	151510396	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	7.186000	0.77722	2.366000	0.80165	0.563000	0.77884	GAA	.		0.498	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
MICU3	286097	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	16944544	16944544	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:16944544G>T	ENST00000318063.5	+	7	891	c.849G>T	c.(847-849)ctG>ctT	p.L283L		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	283						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										GTGCAATGCTGGTAAGAATAC	0.299																																					p.L283L		.											.	EFHA2-91	0			c.G849T						.						94.0	103.0	100.0					8																	16944544		2203	4299	6502	SO:0001630	splice_region_variant	286097	exon7			AATGCTGGTAAGA	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.849+1G>T	8.37:g.16944544G>T		57	0		28	5	NM_181723	0	0	0	0	0	Q8IYZ3	Silent	SNP	ENST00000318063.5	37	CCDS5999.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118678	0.37436	.	.	ENSG00000155970	ENST00000519044	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	T	0.74520	0.3727	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72497	-0.4275	4	.	.	.	-4.5832	18.228	0.89924	0.0:0.0:1.0:0.0	.	.	.	.	L	141	.	.	W	+	2	0	EFHA2	16988915	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	6.646000	0.74348	2.733000	0.93635	0.585000	0.79938	TGG	.		0.299	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723	Silent
BMP1	649	broad.mit.edu;bcgsc.ca	37	8	22064484	22064484	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:22064484G>T	ENST00000306385.5	+	17	3021	c.2351G>T	c.(2350-2352)cGg>cTg	p.R784L	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	784	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCCGGGCACCGGGTCAAGCTG	0.647																																					p.R784L		.											.	BMP1-155	0			c.G2351T						.						54.0	44.0	47.0					8																	22064484		2203	4300	6503	SO:0001583	missense	649	exon17			GGCACCGGGTCAA		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2351G>T	8.37:g.22064484G>T	ENSP00000305714:p.Arg784Leu	356	0		242	9	NM_006129	0	0	0	0	0	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888110	0.91814	.	.	ENSG00000168487	ENST00000306385	T	0.18960	2.18	4.19	4.19	0.49359	CUB (5);	0.000000	0.35870	U	0.002934	T	0.47619	0.1455	M	0.82132	2.575	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.49952	-0.8884	10	0.40728	T	0.16	.	15.4614	0.75359	0.0:0.0:1.0:0.0	.	784	P13497	BMP1_HUMAN	L	784	ENSP00000305714:R784L	ENSP00000305714:R784L	R	+	2	0	BMP1	22120429	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.640000	0.98453	2.156000	0.67533	0.462000	0.41574	CGG	.		0.647	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132	
ENTPD4	9583	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	23294562	23294562	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:23294562G>T	ENST00000358689.4	-	10	1494	c.1259C>A	c.(1258-1260)cCa>cAa	p.P420Q	ENTPD4_ENST00000417069.2_Missense_Mutation_p.P412Q|ENTPD4_ENST00000356206.6_Missense_Mutation_p.P412Q|ENTPD4_ENST00000521321.1_5'Flank	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	420					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GAAGTGAATTGGGGGCTGGTA	0.478																																					p.P420Q		.											.	ENTPD4-92	0			c.C1259A						.						127.0	132.0	131.0					8																	23294562		2203	4300	6503	SO:0001583	missense	9583	exon10			TGAATTGGGGGCT	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1259C>A	8.37:g.23294562G>T	ENSP00000351520:p.Pro420Gln	149	1		116	33	NM_004901	0	0	6	10	4	D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056792	0.93793	.	.	ENSG00000197217	ENST00000518471;ENST00000356206;ENST00000358689;ENST00000417069	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.59	5.59	0.84812	.	0.097077	0.64402	D	0.000001	T	0.25938	0.0632	L	0.56280	1.765	0.54753	D	0.999989	D;P;P	0.53619	0.961;0.831;0.933	P;P;P	0.57009	0.811;0.602;0.723	T	0.00103	-1.2061	10	0.66056	D	0.02	-13.5325	18.1443	0.89651	0.0:0.0:1.0:0.0	.	412;412;420	Q8NE73;Q9Y227-2;Q9Y227	.;.;ENTP4_HUMAN	Q	15;412;420;412	ENSP00000430579:P15Q;ENSP00000348536:P412Q;ENSP00000351520:P420Q;ENSP00000408573:P412Q	ENSP00000348536:P412Q	P	-	2	0	ENTPD4	23350507	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	9.869000	0.99810	2.631000	0.89168	0.462000	0.41574	CCA	.		0.478	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901	
NEFM	4741	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	24774959	24774959	+	Nonsense_Mutation	SNP	G	G	T	rs138461187	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:24774959G>T	ENST00000221166.5	+	3	2373	c.1591G>T	c.(1591-1593)Gaa>Taa	p.E531*	NEFM_ENST00000521540.1_Intron|NEFM_ENST00000518131.1_Nonsense_Mutation_p.E531*|NEFM_ENST00000433454.2_Nonsense_Mutation_p.E155*|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Nonsense_Mutation_p.E531*			P07197	NFM_HUMAN	neurofilament, medium polypeptide	531	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ggaggaagaagaaggccagga	0.493																																					p.E531X		.											.	NEFM-577	0			c.G1591T						.						33.0	37.0	36.0					8																	24774959		2187	4268	6455	SO:0001587	stop_gained	4741	exon3			GAAGAAGAAGGCC	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1591G>T	8.37:g.24774959G>T	ENSP00000221166:p.Glu531*	88	1		63	11	NM_005382	0	0	10	11	1	B4DGN2|E9PBF7|Q4QRK6	Nonsense_Mutation	SNP	ENST00000221166.5	37	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932470	0.73442	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	.	.	.	4.19	3.29	0.37713	.	0.000000	0.41194	D	0.000933	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	11.3184	0.49405	0.0924:0.0:0.9076:0.0	.	.	.	.	X	531;531;531;155	.	ENSP00000221166:E531X	E	+	1	0	NEFM	24830864	0.721000	0.28007	0.998000	0.56505	0.088000	0.18126	1.311000	0.33562	2.032000	0.59987	0.313000	0.20887	GAA	G|0.999;A|0.001		0.493	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382	
PRKDC	5591	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	48790325	48790325	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:48790325C>A	ENST00000314191.2	-	41	5376	c.5320G>T	c.(5320-5322)Gaa>Taa	p.E1774*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E1774*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1775					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AATAATTCTTCCATGACATGC	0.398								Non-homologous end-joining																													.	Esophageal Squamous(79;1091 1253 12329 31680 40677)	.											.	PRKDC-1515	0			.						.						128.0	125.0	126.0					8																	48790325		1879	4103	5982	SO:0001587	stop_gained	5591	.			ATTCTTCCATGAC		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5320G>T	8.37:g.48790325C>A	ENSP00000313420:p.Glu1774*	96	0		79	39	.	0	0	0	2	2	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	C	45	11.660641	0.99588	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7092	0.96085	0.0:1.0:0.0:0.0	.	.	.	.	X	1774	.	ENSP00000313420:E1774X	E	-	1	0	PRKDC	48952878	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	6.900000	0.75687	2.664000	0.90586	0.585000	0.79938	GAA	.		0.398	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
PCMTD1	115294	bcgsc.ca	37	8	52733102	52733102	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:52733102G>A	ENST00000360540.5	-	7	1289	c.883C>T	c.(883-885)Ctt>Ttt	p.L295F	PCMTD1_ENST00000544451.1_Missense_Mutation_p.L219F|PCMTD1_ENST00000522514.1_Missense_Mutation_p.L295F|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	295						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.L295F(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TGAGGAATAAGCTGATTACCC	0.418																																					p.L295F		.											.	PCMTD1-68	2	Substitution - Missense(2)	NS(1)|skin(1)	c.C883T						.						178.0	172.0	174.0					8																	52733102		2203	4300	6503	SO:0001583	missense	115294	exon6			GAATAAGCTGATT		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.883C>T	8.37:g.52733102G>A	ENSP00000353739:p.Leu295Phe	204	0		172	7	NM_052937	0	0	5	5	0	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025780	0.75390	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.49720	0.77;0.77;0.77	5.97	5.1	0.69264	.	0.063724	0.64402	N	0.000004	T	0.64800	0.2631	L	0.57536	1.79	0.80722	D	1	D;B;P	0.76494	0.999;0.412;0.954	D;B;P	0.85130	0.997;0.148;0.649	T	0.65459	-0.6163	10	0.46703	T	0.11	-65.0248	14.9395	0.70983	0.0681:0.0:0.9319:0.0	.	165;219;295	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	F	295;219;295	ENSP00000353739:L295F;ENSP00000444026:L219F;ENSP00000428099:L295F	ENSP00000353739:L295F	L	-	1	0	PCMTD1	52895655	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	7.107000	0.77047	1.532000	0.49169	0.655000	0.94253	CTT	.		0.418	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937	
PCMTD1	115294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	52744112	52744112	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:52744112G>T	ENST00000360540.5	-	6	1004	c.598C>A	c.(598-600)Cga>Aga	p.R200R	PCMTD1_ENST00000544451.1_Silent_p.R124R|PCMTD1_ENST00000522514.1_Silent_p.R200R|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	200						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TGTCCAGTTCGCATAATCTGT	0.353																																					p.R200R		.											.	PCMTD1-68	0			c.C598A						.						115.0	102.0	107.0					8																	52744112		2203	4300	6503	SO:0001819	synonymous_variant	115294	exon5			CAGTTCGCATAAT		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.598C>A	8.37:g.52744112G>T		40	0		38	7	NM_052937	0	0	7	7	0	Q96FK9	Silent	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	G	9.492	1.101047	0.20552	.	.	ENSG00000168300	ENST00000519554	.	.	.	5.45	1.27	0.21489	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.0532	5.8156	0.18490	0.1596:0.0:0.3911:0.4493	.	.	.	.	X	91	.	.	C	-	3	2	PCMTD1	52906665	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.453000	0.44970	0.645000	0.30675	0.557000	0.71058	TGC	.		0.353	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937	
SLCO5A1	81796	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	70591644	70591644	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:70591644C>A	ENST00000260126.4	-	8	2699	c.1993G>T	c.(1993-1995)Gcc>Tcc	p.A665S	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.A665S|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A610S	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	665						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GATGGTTGGGCACATGCTGTG	0.428																																					p.A665S		.											.	SLCO5A1-94	0			c.G1993T						.						211.0	209.0	210.0					8																	70591644		2203	4300	6503	SO:0001583	missense	81796	exon7			GTTGGGCACATGC	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1993G>T	8.37:g.70591644C>A	ENSP00000260126:p.Ala665Ser	207	1		185	78	NM_001146008	0	0	0	0	0	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781914	0.49891	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.81247	-1.47;1.2;-1.47	5.46	5.46	0.80206	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.057427	0.64402	D	0.000002	D	0.83335	0.5232	N	0.21240	0.645	0.58432	D	0.999999	P;D;D	0.89917	0.711;0.975;1.0	P;P;D	0.85130	0.634;0.851;0.997	T	0.80487	-0.1361	10	0.22706	T	0.39	.	19.311	0.94187	0.0:1.0:0.0:0.0	.	610;665;665	E9PKK5;Q9H2Y9;G3V1C0	.;SO5A1_HUMAN;.	S	665;665;610	ENSP00000260126:A665S;ENSP00000434422:A665S;ENSP00000431611:A610S	ENSP00000260126:A665S	A	-	1	0	SLCO5A1	70754198	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.762000	0.85270	2.550000	0.86006	0.655000	0.94253	GCC	.		0.428	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958	
TRPA1	8989	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	72973992	72973992	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:72973992C>A	ENST00000262209.4	-	7	1019	c.812G>T	c.(811-813)gGa>gTa	p.G271V		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	271					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGTGCACCTTCCCTTCTGTAA	0.383																																					p.G271V		.											.	TRPA1-230	0			c.G812T						.						126.0	105.0	112.0					8																	72973992		2203	4300	6503	SO:0001583	missense	8989	exon7			CACCTTCCCTTCT	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.812G>T	8.37:g.72973992C>A	ENSP00000262209:p.Gly271Val	118	0		93	7	NM_007332	0	0	0	0	0	A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016871	0.35606	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.64618	-0.11;-0.11	4.94	2.02	0.26589	Ankyrin repeat-containing domain (4);	0.323024	0.37053	N	0.002263	T	0.45816	0.1361	L	0.31476	0.935	0.58432	D	0.999998	P	0.44139	0.827	B	0.40940	0.344	T	0.33599	-0.9862	10	0.59425	D	0.04	-4.1648	6.4541	0.21920	0.0:0.2873:0.5606:0.1521	.	271	O75762	TRPA1_HUMAN	V	123;271	ENSP00000428151:G123V;ENSP00000262209:G271V	ENSP00000262209:G271V	G	-	2	0	TRPA1	73136546	1.000000	0.71417	0.399000	0.26333	0.320000	0.28249	2.653000	0.46691	0.231000	0.21079	0.655000	0.94253	GGA	.		0.383	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
PI15	51050	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	75737605	75737605	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:75737605G>C	ENST00000260113.2	+	2	300	c.121G>C	c.(121-123)Gaa>Caa	p.E41Q	RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.E41Q	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	41						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CACTGATATTGAAGCAGCTCT	0.473																																					p.E41Q		.											.	PI15-515	0			c.G121C						.						122.0	116.0	118.0					8																	75737605		2203	4300	6503	SO:0001583	missense	51050	exon2			GATATTGAAGCAG	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.121G>C	8.37:g.75737605G>C	ENSP00000260113:p.Glu41Gln	102	1		109	18	NM_015886	0	0	0	0	0	Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854164	0.32791	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.08720	3.06;3.06	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000009	T	0.09202	0.0227	L	0.53249	1.67	0.36480	D	0.867798	B	0.20052	0.041	B	0.17098	0.017	T	0.11203	-1.0597	10	0.25106	T	0.35	.	10.3286	0.43809	0.1517:0.0:0.8483:0.0	.	41	O43692	PI15_HUMAN	Q	41	ENSP00000260113:E41Q;ENSP00000428567:E41Q	ENSP00000260113:E41Q	E	+	1	0	PI15	75900160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.202000	0.65169	2.721000	0.93114	0.655000	0.94253	GAA	.		0.473	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886	
SLC10A5	347051	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	82607084	82607084	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:82607084C>A	ENST00000518568.1	-	1	1325	c.124G>T	c.(124-126)Gaa>Taa	p.E42*		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	42						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AGGATGGTTTCTTCAGTCTTT	0.353																																					p.E42X		.											.	SLC10A5-90	0			c.G124T						.						103.0	99.0	100.0					8																	82607084		2203	4299	6502	SO:0001587	stop_gained	347051	exon1			TGGTTTCTTCAGT		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.124G>T	8.37:g.82607084C>A	ENSP00000428612:p.Glu42*	95	1		69	50	NM_001010893	0	0	0	0	0	B2RN26	Nonsense_Mutation	SNP	ENST00000518568.1	37	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	C	46	12.434313	0.99667	.	.	ENSG00000253598	ENST00000518568	.	.	.	6.07	6.07	0.98685	.	0.000000	0.46758	D	0.000270	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-18.9905	16.1594	0.81686	0.0:1.0:0.0:0.0	.	.	.	.	X	42	.	ENSP00000428612:E42X	E	-	1	0	SLC10A5	82769639	1.000000	0.71417	0.998000	0.56505	0.606000	0.37113	3.549000	0.53681	2.885000	0.99019	0.655000	0.94253	GAA	.		0.353	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493	
RMDN1	51115	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	87519275	87519275	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:87519275C>A	ENST00000406452.3	-	2	355	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	RMDN1_ENST00000519966.1_Nonsense_Mutation_p.E66*|CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000518772.1_5'UTR|RMDN1_ENST00000523911.1_Nonsense_Mutation_p.E22*|RMDN1_ENST00000430676.2_Nonsense_Mutation_p.E66*	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	66						microtubule (GO:0005874)|mitochondrion (GO:0005739)											TGGTAAGTTTCAAAACCCAAA	0.378																																					p.E66X		.											.	.	0			c.G196T						.						123.0	134.0	130.0					8																	87519275		2203	4300	6503	SO:0001587	stop_gained	51115	exon2			AAGTTTCAAAACC	AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.196G>T	8.37:g.87519275C>A	ENSP00000385927:p.Glu66*	92	0		78	34	NM_016033	0	0	7	7	0	A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Nonsense_Mutation	SNP	ENST00000406452.3	37	CCDS34918.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.076608|6.076608	0.97262|0.97262	.|.	.|.	ENSG00000176623|ENSG00000176623	ENST00000406452;ENST00000523911;ENST00000519966;ENST00000430676;ENST00000521045|ENST00000519789	.|.	.|.	.|.	4.4|4.4	4.4|4.4	0.53042|0.53042	.|.	0.253529|.	0.40385|.	N|.	0.001103|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.27785|.	T|.	0.31|.	-21.2953|-21.2953	12.3736|12.3736	0.55267|0.55267	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	66;22;66;66;22|11	.|.	ENSP00000385927:E66X|.	E|X	-|-	1|2	0|2	FAM82B|FAM82B	87588391|87588391	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	3.672000|3.672000	0.54583|0.54583	2.280000|2.280000	0.76307|0.76307	0.655000|0.655000	0.94253|0.94253	GAA|TGA	.		0.378	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033	
KIAA1429	25962	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	95538629	95538629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:95538629C>A	ENST00000297591.5	-	8	1918	c.1843G>T	c.(1843-1845)Gaa>Taa	p.E615*	KIAA1429_ENST00000437199.1_Nonsense_Mutation_p.E615*|KIAA1429_ENST00000421249.2_Nonsense_Mutation_p.E615*	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	615					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTTGAGGATTCCAAAAGATCC	0.388																																					p.E615X		.											.	KIAA1429-92	0			c.G1843T						.						139.0	133.0	135.0					8																	95538629		2203	4300	6503	SO:0001587	stop_gained	25962	exon8			AGGATTCCAAAAG	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1843G>T	8.37:g.95538629C>A	ENSP00000297591:p.Glu615*	66	0		59	8	NM_015496	0	0	1	3	2	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Nonsense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	39	7.592799	0.98378	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	.	.	.	5.95	5.95	0.96441	.	0.183972	0.49916	D	0.000122	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-17.4778	20.3748	0.98911	0.0:1.0:0.0:0.0	.	.	.	.	X	615	.	ENSP00000297591:E615X	E	-	1	0	KIAA1429	95607805	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.470000	0.60175	2.817000	0.96982	0.563000	0.77884	GAA	.		0.388	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496	
GDF6	392255	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	97157039	97157039	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:97157039C>T	ENST00000287020.5	-	2	1219	c.1120G>A	c.(1120-1122)Gcg>Acg	p.A374T		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	374					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					TCCAGGGGCGCGATAATCCAG	0.622																																					p.A374T		.											.	GDF6-228	0			c.G1120A						.						104.0	87.0	93.0					8																	97157039		2203	4300	6503	SO:0001583	missense	392255	exon2			GGGGCGCGATAAT		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.1120G>A	8.37:g.97157039C>T	ENSP00000287020:p.Ala374Thr	140	0		159	10	NM_001001557	0	0	0	0	0	Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	CCDS34926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.092179|5.092179	0.94149|0.94149	.|.	.|.	ENSG00000156466|ENSG00000156466	ENST00000435084|ENST00000287020	.|D	.|0.84730	.|-1.89	4.72|4.72	4.72|4.72	0.59763|0.59763	.|Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.95050	.|0.8397	H|H	0.96604|0.96604	3.85|3.85	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	.|D	.|0.96708	.|0.9523	.|10	.|0.87932	.|D	.|0	.|.	16.6379|16.6379	0.85064|0.85064	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|374	.|Q6KF10	.|GDF6_HUMAN	.|T	-1|374	.|ENSP00000287020:A374T	.|ENSP00000287020:A374T	.|A	-|-	.|1	.|0	GDF6|GDF6	97226215|97226215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.597000|7.597000	0.82733|0.82733	2.441000|2.441000	0.82636|0.82636	0.557000|0.557000	0.71058|0.71058	.|GCG	.		0.622	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557	
VPS13B	157680	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	100733234	100733234	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:100733234G>T	ENST00000358544.2	+	39	7195	c.7084G>T	c.(7084-7086)Gat>Tat	p.D2362Y	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.D2337Y	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2362					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CACCACAGAGGATCCAGATAT	0.408																																					p.D2362Y	Colon(161;2205 2542 7338 31318)	.											.	VPS13B-301	0			c.G7084T						.						124.0	115.0	118.0					8																	100733234		2203	4300	6503	SO:0001583	missense	157680	exon39			ACAGAGGATCCAG	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7084G>T	8.37:g.100733234G>T	ENSP00000351346:p.Asp2362Tyr	71	0		84	35	NM_017890	0	0	2	2	0	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908439	0.92107	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.72725	-0.68;-0.68	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.83358	0.5237	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.83267	-0.0045	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	2337;2362	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	Y	2337;2362	ENSP00000349685:D2337Y;ENSP00000351346:D2362Y	ENSP00000349685:D2337Y	D	+	1	0	VPS13B	100802410	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.846000	0.99502	2.861000	0.98227	0.655000	0.94253	GAT	.		0.408	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
UBR5	51366	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	103284937	103284937	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:103284937G>T	ENST00000520539.1	-	48	7399	c.6793C>A	c.(6793-6795)Cga>Aga	p.R2265R	UBR5_ENST00000518205.1_5'UTR|UBR5_ENST00000220959.4_Silent_p.R2265R|UBR5_ENST00000521922.1_Silent_p.R2259R	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2265					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCACATCTTCGACCAAAGTGA	0.413																																					p.R2265R	Ovarian(131;96 1741 5634 7352 27489)	.											.	UBR5-761	0			c.C6793A						.						110.0	90.0	96.0					8																	103284937		2203	4300	6503	SO:0001819	synonymous_variant	51366	exon48			ATCTTCGACCAAA	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6793C>A	8.37:g.103284937G>T		147	1		112	60	NM_015902	0	0	1	2	1	B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	CCDS34933.1																																																																																			.		0.413	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
TRPS1	7227	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	116632191	116632191	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:116632191C>A	ENST00000220888.5	-	2	254	c.95G>T	c.(94-96)gGa>gTa	p.G32V	TRPS1_ENST00000395715.3_Missense_Mutation_p.G45V|TRPS1_ENST00000519674.1_Missense_Mutation_p.G32V|TRPS1_ENST00000520276.1_Missense_Mutation_p.G36V|TRPS1_ENST00000519076.1_Missense_Mutation_p.G32V			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	32					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTGTTCTTTCCAGATACCTT	0.448									Langer-Giedion syndrome																												p.G45V		.											.	TRPS1-229	0			c.G134T						.						112.0	100.0	104.0					8																	116632191		1857	4120	5977	SO:0001583	missense	7227	exon3	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	TTCTTTCCAGATA	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.95G>T	8.37:g.116632191C>A	ENSP00000220888:p.Gly32Val	109	0		85	36	NM_014112	0	0	0	0	0	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	C	11.54	1.669440	0.29693	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674;ENST00000395713;ENST00000519815;ENST00000422939	D;D;D;D;T	0.98437	-4.91;-4.88;-4.93;-4.88;0.92	5.82	4.93	0.64822	.	0.291798	0.29616	N	0.011658	D	0.94212	0.8142	N	0.19112	0.55	0.58432	D	0.999994	B;B;B	0.13594	0.003;0.002;0.008	B;B;B	0.17979	0.02;0.005;0.02	D	0.90308	0.4335	10	0.62326	D	0.03	-0.7333	6.2342	0.20754	0.1398:0.6555:0.1346:0.0701	.	36;32;45	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	V	45;32;32;36;32;45;45;45	ENSP00000379065:G45V;ENSP00000220888:G32V;ENSP00000428910:G32V;ENSP00000428680:G36V;ENSP00000429174:G32V	ENSP00000220888:G32V	G	-	2	0	TRPS1	116701366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.525000	0.35953	1.434000	0.47414	0.650000	0.86243	GGA	.		0.448	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
SQLE	6713	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	126030309	126030309	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:126030309C>A	ENST00000265896.5	+	8	2111	c.1213C>A	c.(1213-1215)Ctt>Att	p.L405I	SQLE_ENST00000523430.1_Missense_Mutation_p.L310I	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	405					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	AGGTGTTCTTCTTTTGGGAGA	0.343																																					p.L405I		.											.	SQLE-523	0			c.C1213A						.						99.0	94.0	96.0					8																	126030309		1827	4076	5903	SO:0001583	missense	6713	exon8			GTTCTTCTTTTGG	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.1213C>A	8.37:g.126030309C>A	ENSP00000265896:p.Leu405Ile	50	1		36	32	NM_003129	0	0	0	1	1	Q9UEK6	Missense_Mutation	SNP	ENST00000265896.5	37	CCDS47918.1	.	.	.	.	.	.	.	.	.	.	C	8.610	0.888833	0.17540	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193;ENST00000518931	T;T;T	0.58060	0.36;0.36;0.36	5.48	-1.32	0.09201	Aromatic-ring hydroxylase-like (1);Squalene epoxidase (1);	0.169646	0.53938	N	0.000054	T	0.51907	0.1702	M	0.70595	2.14	0.39063	D	0.960567	B	0.31655	0.334	B	0.37989	0.262	T	0.54268	-0.8319	10	0.42905	T	0.14	-4.4394	12.6588	0.56801	0.5336:0.3628:0.1036:0.0	.	405	Q14534	ERG1_HUMAN	I	310;405;210;57	ENSP00000430331:L310I;ENSP00000265896:L405I;ENSP00000429916:L57I	ENSP00000265896:L405I	L	+	1	0	SQLE	126099491	0.802000	0.28943	0.779000	0.31741	0.044000	0.14063	1.575000	0.36493	-0.245000	0.09625	0.655000	0.94253	CTT	.		0.343	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129	
THEM6	51337	broad.mit.edu;bcgsc.ca	37	8	143816819	143816819	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:143816819A>G	ENST00000336138.3	+	2	733	c.589A>G	c.(589-591)Atg>Gtg	p.M197V		NM_016647.2	NP_057731.1	Q8WUY1	THEM6_HUMAN	thioesterase superfamily member 6	197						extracellular region (GO:0005576)											GCTGCTCCGCATGGAGAGTGG	0.647																																					p.M197V		.											.	.	0			c.A589G						.						60.0	42.0	48.0					8																	143816819		2196	4291	6487	SO:0001583	missense	51337	exon2			CTCCGCATGGAGA	BC001311	CCDS6386.1	8q24.3	2012-05-03	2012-04-13	2012-04-13	ENSG00000130193	ENSG00000130193			29656	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 55"""	C8orf55		12477932	Standard	XM_005250955		Approved	DSCD75	uc003yww.1	Q8WUY1	OTTHUMG00000164673	ENST00000336138.3:c.589A>G	8.37:g.143816819A>G	ENSP00000338607:p.Met197Val	79	2		45	16	NM_016647	0	0	7	16	9	B2RDN6|Q8NBN2|Q9NYI2	Missense_Mutation	SNP	ENST00000336138.3	37	CCDS6386.1	.	.	.	.	.	.	.	.	.	.	A	3.281	-0.147121	0.06627	.	.	ENSG00000130193	ENST00000336138	T	0.40756	1.02	4.07	3.18	0.36537	.	0.242690	0.32314	N	0.006270	T	0.20170	0.0485	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.14578	0.011;0.0	T	0.13124	-1.0521	10	0.32370	T	0.25	-19.7085	6.8939	0.24245	0.1315:0.0:0.8685:0.0	.	144;197	B4DWJ7;Q8WUY1	.;CH055_HUMAN	V	197	ENSP00000338607:M197V	ENSP00000338607:M197V	M	+	1	0	C8orf55	143813821	0.997000	0.39634	0.144000	0.22314	0.010000	0.07245	4.036000	0.57304	0.899000	0.36444	-0.468000	0.05107	ATG	.		0.647	THEM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379706.1	NM_016647	
ZNF696	79943	hgsc.bcm.edu	37	8	144378868	144378868	+	Silent	SNP	A	A	G	rs7386259	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5.0	5.0	5.0		1023	-0.3	0.0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"""Zinc fingers, C2H2-type"""	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		0	0		5	5	NM_030895	0	0	0	0	0	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895	
PYCRL	65263	bcgsc.ca	37	8	144687947	144687947	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:144687947G>T	ENST00000220966.6	-	6	813	c.784C>A	c.(784-786)Cag>Aag	p.Q262K	PYCRL_ENST00000377579.3_Missense_Mutation_p.Q113K|RP11-661A12.14_ENST00000606452.1_lincRNA|PYCRL_ENST00000495276.1_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	250					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)	p.L248_A256delLEQGGLRAA(1)		central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		L-Proline(DB00172)	AGCCCGCCCTGCTCCAGGGCG	0.677																																					p.Q262K		.											.	PYCRL-90	1	Deletion - In frame(1)	ovary(1)	c.C784A						.						42.0	44.0	43.0					8																	144687947		2203	4298	6501	SO:0001583	missense	65263	exon6			CGCCCTGCTCCAG	AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.784C>A	8.37:g.144687947G>T	ENSP00000220966:p.Gln262Lys	53	2		96	44	NM_023078	0	0	4	20	16	B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Missense_Mutation	SNP	ENST00000220966.6	37	CCDS6407.2	.	.	.	.	.	.	.	.	.	.	G	3.245	-0.154526	0.06544	.	.	ENSG00000104524	ENST00000220966;ENST00000377579;ENST00000433751	D;D;D	0.83506	-1.73;-1.73;-1.73	5.0	5.0	0.66597	6-phosphogluconate dehydrogenase, C-terminal-like (1);	.	.	.	.	T	0.60637	0.2284	N	0.03224	-0.385	0.25430	N	0.988194	B;B	0.11235	0.004;0.001	B;B	0.06405	0.002;0.002	T	0.42155	-0.9468	9	0.02654	T	1	8.9115	10.9915	0.47551	0.0:0.0:0.7067:0.2933	.	262;250	D3DWK4;Q53H96	.;P5CR3_HUMAN	K	262;113;237	ENSP00000220966:Q262K;ENSP00000366802:Q113K;ENSP00000404493:Q237K	ENSP00000220966:Q262K	Q	-	1	0	PYCRL	144759090	1.000000	0.71417	0.999000	0.59377	0.717000	0.41224	2.633000	0.46519	2.336000	0.79503	0.561000	0.74099	CAG	.		0.677	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347081.2	NM_023078	
SCRIB	23513	hgsc.bcm.edu	37	8	144874554	144874554	+	Silent	SNP	T	T	C	rs6991873	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:144874554T>C	ENST00000320476.3	-	32	4356	c.4350A>G	c.(4348-4350)ccA>ccG	p.P1450P	SCRIB_ENST00000356994.2_Silent_p.P1450P|SCRIB_ENST00000546337.1_5'Flank|RP11-429J17.8_ENST00000532625.1_RNA|RP11-429J17.8_ENST00000534089.1_RNA|SCRIB_ENST00000377533.3_Silent_p.P1369P|RP11-429J17.8_ENST00000527139.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1450					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTCCCAGGGGTGGGGGGGACG	0.751													T|||	4958	0.990016	0.9652	0.9971	5008	,	,		8428	1.0		0.998	False		,,,				2504	1.0				p.P1450P	Pancreas(51;966 1133 10533 14576 29674)	.											.	SCRIB-228	0			c.A4350G						.	T	,	3300,62		1619,62,0	3.0	4.0	4.0		4350,4350	-2.9	0.0	8	dbSNP_116	4	7076,4		3536,4,0	no	coding-synonymous,coding-synonymous	SCRIB	NM_015356.3,NM_182706.3	,	5155,66,0	CC,CT,TT		0.0565,1.8441,0.6321	,	1450/1631,1450/1656	144874554	10376,66	1681	3540	5221	SO:0001819	synonymous_variant	23513	exon32			CAGGGGTGGGGGG	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.4350A>G	8.37:g.144874554T>C		0	0		4	4	NM_015356	0	0	0	18	18	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	CCDS6411.1	2162	0.98992673992674	472	0.959349593495935	361	0.9972375690607734	572	1.0	757	0.9986807387862797	T	5.986	0.365776	0.11352	0.981559	0.999435	ENSG00000180900	ENST00000526832	.	.	.	4.01	-2.89	0.05665	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.20773	-1.0265	3	.	.	.	.	6.6143	0.22769	0.0:0.6476:0.1513:0.201	rs6991873	.	.	.	A	470	.	.	T	-	1	0	SCRIB	144946542	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.411000	0.07142	-0.857000	0.04115	-0.386000	0.06593	ACC	T|0.010;C|0.990		0.751	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356	
PLEC	5339	hgsc.bcm.edu	37	8	144996263	144996263	+	Silent	SNP	G	G	A	rs11988293	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:144996263G>A	ENST00000322810.4	-	32	8306	c.8137C>T	c.(8137-8139)Ctg>Ttg	p.L2713L	PLEC_ENST00000354958.2_Silent_p.L2554L|PLEC_ENST00000356346.3_Silent_p.L2562L|PLEC_ENST00000436759.2_Silent_p.L2603L|PLEC_ENST00000345136.3_Silent_p.L2576L|PLEC_ENST00000398774.2_Silent_p.L2544L|PLEC_ENST00000527096.1_Silent_p.L2599L|PLEC_ENST00000354589.3_Silent_p.L2576L|PLEC_ENST00000357649.2_Silent_p.L2580L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2713	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						tgctgctccagctgctgcagc	0.721													G|||	268	0.0535144	0.1952	0.013	5008	,	,		15052	0.0		0.001	False		,,,				2504	0.0				p.L2713L		.											.	PLEC-141	0			c.C8137T						.	G	,,,,,,,	677,3429		38,601,1414	5.0	6.0	5.0		7807,7684,7660,8137,7630,7726,7738,7726	3.2	0.7	8	dbSNP_120	5	6,7986		0,6,3990	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	38,607,5404	AA,AG,GG		0.0751,16.4881,5.6456	,,,,,,,	2603/4575,2562/4534,2554/4526,2713/4685,2544/4516,2576/4548,2580/4552,2576/4548	144996263	683,11415	2053	3996	6049	SO:0001819	synonymous_variant	5339	exon32			GCTCCAGCTGCTG	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8137C>T	8.37:g.144996263G>A		4	0		32	31	NM_201380	0	0	1	12	11	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.958;A|0.042		0.721	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
SLC1A1	6505	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	4583052	4583052	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:4583052C>A	ENST00000262352.3	+	11	1444	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	403					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	ACGGCCACATCTGCCAGCATC	0.587																																					p.S403Y		.											.	SLC1A1-514	0			c.C1208A						.						105.0	90.0	95.0					9																	4583052		2203	4300	6503	SO:0001583	missense	6505	exon11			CCACATCTGCCAG		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1208C>A	9.37:g.4583052C>A	ENSP00000262352:p.Ser403Tyr	102	0		103	17	NM_004170	0	0	3	3	0	O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	ENST00000262352.3	37	CCDS6452.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173489	0.38413	.	.	ENSG00000106688	ENST00000262352	T	0.58652	0.32	5.49	5.49	0.81192	.	0.263225	0.43416	D	0.000561	T	0.44414	0.1292	N	0.08118	0	0.80722	D	1	B	0.15719	0.014	B	0.24701	0.055	T	0.40440	-0.9563	10	0.66056	D	0.02	.	19.7347	0.96198	0.0:1.0:0.0:0.0	.	403	P43005	EAA3_HUMAN	Y	403	ENSP00000262352:S403Y	ENSP00000262352:S403Y	S	+	2	0	SLC1A1	4573052	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	4.815000	0.62634	2.746000	0.94184	0.655000	0.94253	TCT	.		0.587	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1		
ERMP1	79956	hgsc.bcm.edu	37	9	5832728	5832728	+	Silent	SNP	G	G	C	rs1131727	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:5832728G>C	ENST00000339450.5	-	1	389	c.300C>G	c.(298-300)gcC>gcG	p.A100A	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_5'Flank	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	100						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GGTGTCCAGCGGCCCCGCGTA	0.741													G|||	2021	0.403554	0.1309	0.428	5008	,	,		3601	0.7093		0.34	False		,,,				2504	0.5051				p.A100A		.											.	ERMP1-69	0			c.C300G						.						4.0	3.0	3.0					9																	5832728		1620	3326	4946	SO:0001819	synonymous_variant	79956	exon1			TCCAGCGGCCCCG	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.300C>G	9.37:g.5832728G>C		1	0		30	12	NM_024896	0	0	0	1	1	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	CCDS34983.1																																																																																			G|0.572;C|0.428		0.741	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896	
RANBP6	26953	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	6013222	6013222	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:6013222C>A	ENST00000259569.5	-	1	2396	c.2386G>T	c.(2386-2388)Gaa>Taa	p.E796*	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	796					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCCAAGTGTTCATCATTAAGG	0.383																																					p.E796X		.											.	RANBP6-229	0			c.G2386T						.						116.0	125.0	122.0					9																	6013222		2203	4300	6503	SO:0001587	stop_gained	26953	exon1			AGTGTTCATCATT	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2386G>T	9.37:g.6013222C>A	ENSP00000259569:p.Glu796*	64	0		83	24	NM_012416	0	0	6	14	8	Q5T7X4|Q7Z3V2|Q96E78	Nonsense_Mutation	SNP	ENST00000259569.5	37	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	37	6.089370	0.97271	.	.	ENSG00000137040	ENST00000259569	.	.	.	4.04	4.04	0.47022	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-11.7105	14.5232	0.67867	0.0:1.0:0.0:0.0	.	.	.	.	X	796	.	ENSP00000259569:E796X	E	-	1	0	RANBP6	6003222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.468000	0.53086	2.542000	0.85734	0.650000	0.86243	GAA	.		0.383	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416	
LURAP1L	286343	hgsc.bcm.edu	37	9	12775864	12775864	+	Silent	SNP	C	C	T	rs534390977		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:12775864C>T	ENST00000319264.3	+	1	845	c.150C>T	c.(148-150)ggC>ggT	p.G50G	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	53	Gly-rich.							p.G50_G52delGGG(1)									gtggtggtggcggcggcggcg	0.687																																					p.G50G		.											.	.	1	Deletion - In frame(1)	large_intestine(1)	c.C150T						.						4.0	5.0	5.0					9																	12775864		1985	3885	5870	SO:0001819	synonymous_variant	286343	exon1			TGGTGGCGGCGGC	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.150C>T	9.37:g.12775864C>T		23	0		51	7	NM_203403	0	0	1	1	0	Q5VZX7|Q8N923|Q8NCG2	Silent	SNP	ENST00000319264.3	37	CCDS6473.1																																																																																			.		0.687	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403	
LURAP1L	286343	broad.mit.edu	37	9	12821687	12821687	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:12821687C>A	ENST00000319264.3	+	2	1310	c.615C>A	c.(613-615)agC>agA	p.S205R		NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	208																	TCAGTGACAGCTCCCTCATAG	0.502																																					p.S205R		.											.	.	0			c.C615A						.						185.0	166.0	172.0					9																	12821687		2203	4300	6503	SO:0001583	missense	286343	exon2			TGACAGCTCCCTC	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.615C>A	9.37:g.12821687C>A	ENSP00000321026:p.Ser205Arg	116	2		110	7	NM_203403	0	0	8	12	4	Q5VZX7|Q8N923|Q8NCG2	Missense_Mutation	SNP	ENST00000319264.3	37	CCDS6473.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022397	0.54683	.	.	ENSG00000153714	ENST00000319264	T	0.45668	0.89	5.59	2.76	0.32466	.	0.268039	0.36268	N	0.002690	T	0.24890	0.0604	N	0.24115	0.695	0.29422	N	0.860514	B	0.30361	0.277	B	0.27380	0.079	T	0.16689	-1.0394	10	0.66056	D	0.02	.	5.9836	0.19421	0.0:0.5949:0.0:0.4051	.	208	Q8IV03	CI150_HUMAN	R	205	ENSP00000321026:S205R	ENSP00000321026:S205R	S	+	3	2	C9orf150	12811687	0.908000	0.30866	0.993000	0.49108	0.892000	0.51952	0.280000	0.18790	0.726000	0.32339	0.563000	0.77884	AGC	.		0.502	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403	
MPDZ	8777	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	13176296	13176296	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:13176296C>A	ENST00000319217.7	-	20	3017	c.2770G>T	c.(2770-2772)Ggg>Tgg	p.G924W	MPDZ_ENST00000381022.2_Missense_Mutation_p.G924W|MPDZ_ENST00000546205.1_Missense_Mutation_p.G924W|MPDZ_ENST00000447879.1_Missense_Mutation_p.G924W|MPDZ_ENST00000536827.1_Missense_Mutation_p.G924W|MPDZ_ENST00000381015.4_Missense_Mutation_p.G924W|MPDZ_ENST00000541718.1_Missense_Mutation_p.G924W	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	924					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GAAGCAGGCCCCATACTTATG	0.403																																					p.G924W		.											.	MPDZ-231	0			c.G2770T						.						108.0	93.0	97.0					9																	13176296		1868	4109	5977	SO:0001583	missense	8777	exon20			CAGGCCCCATACT	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2770G>T	9.37:g.13176296C>A	ENSP00000320006:p.Gly924Trp	108	0		137	11	NM_003829	0	0	0	0	0	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	C	10.21	1.286927	0.23478	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.10960	2.87;2.82;2.82;2.83;2.88;2.87;2.87	5.78	3.95	0.45737	.	0.963671	0.08487	N	0.938580	T	0.13286	0.0322	N	0.14661	0.345	0.24802	N	0.992698	P;P;D	0.56287	0.911;0.947;0.975	B;P;P	0.52758	0.294;0.489;0.708	T	0.37384	-0.9708	10	0.66056	D	0.02	.	10.7546	0.46230	0.0:0.8532:0.0:0.1468	.	924;924;924	B7ZMI4;O75970-3;O75970-2	.;.;.	W	924;924;924;924;924;924;874;924	ENSP00000320006:G924W;ENSP00000439807:G924W;ENSP00000370410:G924W;ENSP00000444151:G924W;ENSP00000415208:G924W;ENSP00000370403:G924W;ENSP00000446358:G924W	ENSP00000320006:G924W	G	-	1	0	MPDZ	13166296	0.006000	0.16342	0.003000	0.11579	0.005000	0.04900	1.171000	0.31896	0.794000	0.33899	-0.251000	0.11542	GGG	.		0.403	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	
MPDZ	8777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	13188983	13188983	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:13188983C>A	ENST00000319217.7	-	17	2411	c.2164G>T	c.(2164-2166)Gat>Tat	p.D722Y	MPDZ_ENST00000381022.2_Missense_Mutation_p.D722Y|MPDZ_ENST00000546205.1_Missense_Mutation_p.D722Y|MPDZ_ENST00000447879.1_Missense_Mutation_p.D722Y|MPDZ_ENST00000536827.1_Missense_Mutation_p.D722Y|MPDZ_ENST00000381015.4_Missense_Mutation_p.D722Y|MPDZ_ENST00000541718.1_Missense_Mutation_p.D722Y	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	722	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTTGCTGGATCAATTGGATCC	0.418																																					p.D722Y		.											.	MPDZ-231	0			c.G2164T						.						47.0	46.0	46.0					9																	13188983		1957	4156	6113	SO:0001583	missense	8777	exon17			CTGGATCAATTGG	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2164G>T	9.37:g.13188983C>A	ENSP00000320006:p.Asp722Tyr	54	0		74	16	NM_003829	0	0	0	0	0	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	C	26.8	4.769492	0.90020	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32	5.9	5.9	0.94986	.	0.000000	0.48286	D	0.000193	T	0.47451	0.1446	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.40813	-0.9543	10	0.72032	D	0.01	.	20.2768	0.98488	0.0:1.0:0.0:0.0	.	722;722;722	B7ZMI4;O75970-3;O75970-2	.;.;.	Y	722;722;722;722;722;722;672;722	ENSP00000320006:D722Y;ENSP00000439807:D722Y;ENSP00000370410:D722Y;ENSP00000444151:D722Y;ENSP00000415208:D722Y;ENSP00000370403:D722Y;ENSP00000446358:D722Y	ENSP00000320006:D722Y	D	-	1	0	MPDZ	13178983	1.000000	0.71417	0.976000	0.42696	0.987000	0.75469	4.659000	0.61504	2.797000	0.96272	0.655000	0.94253	GAT	.		0.418	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	
BNC2	54796	broad.mit.edu;ucsc.edu	37	9	16437424	16437424	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:16437424G>T	ENST00000380672.4	-	6	825	c.768C>A	c.(766-768)tcC>tcA	p.S256S	BNC2_ENST00000380667.2_Silent_p.S189S|BNC2_ENST00000380666.2_Silent_p.S256S|BNC2_ENST00000545497.1_Silent_p.S161S	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GCTCCACAATGGATTTGGTTT	0.493																																					p.S256S		.											.	BNC2-92	0			c.C768A						.						75.0	77.0	76.0					9																	16437424		2203	4300	6503	SO:0001819	synonymous_variant	54796	exon6			CACAATGGATTTG	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.768C>A	9.37:g.16437424G>T		61	1		47	7	NM_017637	0	0	0	0	0		Silent	SNP	ENST00000380672.4	37	CCDS6482.2																																																																																			.		0.493	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
MLLT3	4300	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	20414048	20414048	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:20414048C>A	ENST00000380338.4	-	5	1082	c.796G>T	c.(796-798)Gat>Tat	p.D266Y	MLLT3_ENST00000429426.2_Missense_Mutation_p.D263Y|MLLT3_ENST00000475957.1_5'UTR|MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	266					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		AAGTTACTATCTGGTTTTGGC	0.403			T	MLL	ALL																																p.D266Y		.		Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	.	MLLT3-660	0			c.G796T						.						292.0	294.0	293.0					9																	20414048		2203	4300	6503	SO:0001583	missense	4300	exon5			TACTATCTGGTTT	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.796G>T	9.37:g.20414048C>A	ENSP00000369695:p.Asp266Tyr	155	1		243	31	NM_004529	0	0	5	8	3	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235856	0.39498	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.78	5.78	0.91487	.	0.160465	0.53938	D	0.000041	T	0.44435	0.1293	N	0.19112	0.55	0.80722	D	1	P;P	0.47350	0.894;0.894	B;B	0.41723	0.365;0.365	T	0.50800	-0.8785	9	0.87932	D	0	-16.1418	19.9886	0.97358	0.0:1.0:0.0:0.0	.	263;266	B7Z755;P42568	.;AF9_HUMAN	Y	266;263;305	.	ENSP00000369695:D266Y	D	-	1	0	MLLT3	20404048	1.000000	0.71417	0.996000	0.52242	0.355000	0.29361	4.701000	0.61810	2.727000	0.93392	0.655000	0.94253	GAT	.		0.403	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529	
FOCAD	54914	broad.mit.edu	37	9	20929356	20929356	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:20929356G>T	ENST00000380249.1	+	29	3442		c.e29-1		FOCAD_ENST00000338382.6_Splice_Site|FOCAD_ENST00000605086.1_Splice_Site	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin							focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GCATGTCCTAGAAGTCCTATT	0.443																																					.		.											.	.	0			c.3079-1G>T						.						86.0	84.0	85.0					9																	20929356		2203	4300	6503	SO:0001630	splice_region_variant	54914	exon29			GTCCTAGAAGTCC	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.3079-1G>T	9.37:g.20929356G>T		52	1		71	12	NM_017794	0	0	0	1	1	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Splice_Site	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880164	0.91740	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1797	20919356	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.292000	0.78731	2.820000	0.97059	0.650000	0.86243	.	.		0.443	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	Intron
IFNW1	3467	broad.mit.edu	37	9	21141179	21141179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:21141179C>A	ENST00000380229.2	-	1	965	c.391G>T	c.(391-393)Gaa>Taa	p.E131*		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	131					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCAGCAGATTCTCCTTCTCCC	0.537																																					p.E131X		.											.	IFNW1-90	0			c.G391T						.						83.0	76.0	79.0					9																	21141179		2203	4300	6503	SO:0001587	stop_gained	3467	exon1			CAGATTCTCCTTC		CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"""Interferons"""	5448	protein-coding gene	gene with protein product	"""IFN-omega 1, interferon omega-1"""	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.391G>T	9.37:g.21141179C>A	ENSP00000369578:p.Glu131*	92	2		122	14	NM_002177	0	0	0	0	0	Q13168|Q5U802|Q5VWD0|Q7M4P5	Nonsense_Mutation	SNP	ENST00000380229.2	37	CCDS6496.1	.	.	.	.	.	.	.	.	.	.	C	37	6.373802	0.97515	.	.	ENSG00000177047	ENST00000380229	.	.	.	4.53	0.548	0.17208	.	0.821630	0.10979	N	0.612853	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.9917	0.30244	0.0:0.6574:0.0:0.3426	.	.	.	.	X	131	.	ENSP00000369578:E131X	E	-	1	0	IFNW1	21131179	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.021000	0.13489	-0.070000	0.12908	0.460000	0.39030	GAA	.		0.537	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051885.1	NM_002177	
TUSC1	286319	hgsc.bcm.edu	37	9	25678122	25678122	+	Silent	SNP	G	G	C	rs72631814	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:25678122G>C	ENST00000358022.3	-	1	734	c.198C>G	c.(196-198)gcC>gcG	p.A66A		NM_001004125.2	NP_001004125.1	Q2TAM9	TUSC1_HUMAN	tumor suppressor candidate 1	66										kidney(1)	1	all_hematologic(1;0.197)	all_neural(3;5.42e-18)|Glioma(3;5.54e-17)		GBM - Glioblastoma multiforme(1;1.51e-108)|Lung(42;2.88e-14)|LUSC - Lung squamous cell carcinoma(38;3.16e-11)		CCGCCAGGTCGGCAAACCGCT	0.776													G|||	885	0.176717	0.1324	0.1772	5008	,	,		7019	0.1151		0.3002	False		,,,				2504	0.1728				p.A66A	Pancreas(19;648 672 25630 30820 31331)	.											.	TUSC1-90	0			c.C198G						.	G		389,3633		24,341,1646	6.0	6.0	6.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	198	0.6	1.0	9	dbSNP_130	6	1826,6086		225,1376,2355	no	coding-synonymous	TUSC1	NM_001004125.2		249,1717,4001	CC,CG,GG		23.0789,9.6718,18.5604		66/213	25678122	2215,9719	2011	3956	5967	SO:0001819	synonymous_variant	286319	exon1			CAGGTCGGCAAAC	AY168647	CCDS34999.1	9p21.2	2014-05-22			ENSG00000198680	ENSG00000198680			31010	protein-coding gene	gene with protein product		610529				15208665	Standard	NM_001004125		Approved	TSG-9	uc003zpx.3	Q2TAM9	OTTHUMG00000159591	ENST00000358022.3:c.198C>G	9.37:g.25678122G>C		1	0		35	21	NM_001004125	0	0	3	10	7	A0PJ78|Q67GI3|Q86SS1|Q8TAH8	Silent	SNP	ENST00000358022.3	37	CCDS34999.1																																																																																			G|0.807;C|0.193		0.776	TUSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356351.1	NM_001004125	
ACO1	48	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	32430444	32430444	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:32430444C>A	ENST00000309951.6	+	14	1736	c.1598C>A	c.(1597-1599)tCt>tAt	p.S533Y	ACO1_ENST00000541043.1_Missense_Mutation_p.S434Y|ACO1_ENST00000379923.1_Missense_Mutation_p.S533Y	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	533					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GGAGTACTATCTGGAAACAGG	0.458																																					p.S533Y		.											.	ACO1-226	0			c.C1598A						.						156.0	147.0	150.0					9																	32430444		2203	4300	6503	SO:0001583	missense	48	exon14			TACTATCTGGAAA	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.1598C>A	9.37:g.32430444C>A	ENSP00000309477:p.Ser533Tyr	125	0		180	20	NM_002197	0	0	24	27	3	D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112408	0.94339	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.25579	1.79;1.79;1.79	6.05	6.05	0.98169	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	T	0.72771	0.3502	H	0.99555	4.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84648	0.0699	10	0.87932	D	0	-27.2567	19.3727	0.94495	0.0:1.0:0.0:0.0	.	569;533	Q59FI0;P21399	.;ACOC_HUMAN	Y	569;533;533;434	ENSP00000309477:S533Y;ENSP00000369255:S533Y;ENSP00000438733:S434Y	ENSP00000309477:S533Y	S	+	2	0	ACO1	32420444	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	TCT	.		0.458	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197	
CNTFR	1271	broad.mit.edu;ucsc.edu	37	9	34568922	34568922	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:34568922C>A	ENST00000378980.3	-	3	351	c.58G>T	c.(58-60)Gtc>Ttc	p.V20F	CNTFR-AS1_ENST00000453642.1_RNA|CNTFR-AS1_ENST00000438244.1_RNA|CNTFR-AS1_ENST00000454187.1_RNA|CNTFR-AS1_ENST00000436360.1_RNA|CNTFR_ENST00000351266.4_Missense_Mutation_p.V20F	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	20					brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		TGGGCGTAGACAACTGCGGCG	0.662																																					p.V20F		.											.	CNTFR-518	0			c.G58T						.						22.0	25.0	24.0					9																	34568922		2200	4297	6497	SO:0001583	missense	1271	exon3			CGTAGACAACTGC	M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.58G>T	9.37:g.34568922C>A	ENSP00000368265:p.Val20Phe	149	2		170	18	NM_147164	0	0	0	0	0	Q5U050	Missense_Mutation	SNP	ENST00000378980.3	37	CCDS6558.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.510024	0.64522	.	.	ENSG00000122756	ENST00000378980;ENST00000351266;ENST00000417345	T;T;T	0.29917	1.55;1.55;1.55	4.83	4.83	0.62350	.	0.280182	0.22850	N	0.054868	T	0.30603	0.0770	M	0.62723	1.935	0.37182	D	0.903531	P	0.42757	0.789	B	0.38156	0.266	T	0.46857	-0.9161	9	0.30854	T	0.27	.	13.2919	0.60276	0.0:1.0:0.0:0.0	.	20	P26992	CNTFR_HUMAN	F	20	ENSP00000368265:V20F;ENSP00000242338:V20F;ENSP00000388082:V20F	ENSP00000242338:V20F	V	-	1	0	CNTFR	34558922	0.989000	0.36119	1.000000	0.80357	0.963000	0.63663	3.658000	0.54482	2.504000	0.84457	0.655000	0.94253	GTC	.		0.662	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052176.1		
CA9	768	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	35682151	35682151	+	IGR	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:35682151G>T	ENST00000378357.4	+	0	1618				TPM2_ENST00000378300.5_3'UTR|TPM2_ENST00000378292.3_Missense_Mutation_p.A261D|TPM2_ENST00000329305.2_Missense_Mutation_p.A261D	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX						bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	CTTGGCACTGGCCAAGGTCTC	0.612																																					p.A261D		.											.	TPM2-515	0			c.C782A						.						70.0	60.0	63.0					9																	35682151		2203	4300	6503	SO:0001628	intergenic_variant	7169	exon9			GCACTGGCCAAGG	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029		9.37:g.35682151G>T		75	0		115	23	NM_213674	0	0	8	9	1	Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	37	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671006	0.67814	.	.	ENSG00000198467	ENST00000378292;ENST00000329305	D;D	0.97256	-4.31;-4.31	5.12	5.12	0.69794	.	.	.	.	.	D	0.95159	0.8431	L	0.52364	1.645	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	D	0.92337	0.5878	9	0.51188	T	0.08	.	15.4264	0.75055	0.0:0.0:1.0:0.0	.	261	P07951-2	.	D	261	ENSP00000367542:A261D;ENSP00000367541:A261D	ENSP00000367541:A261D	A	-	2	0	TPM2	35672151	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.082000	0.64450	2.668000	0.90789	0.591000	0.81541	GCC	.		0.612	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216	
NPR2	4882	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	35810505	35810505	+	IGR	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:35810505C>A	ENST00000342694.2	+	0	3686				HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000484764.1_Missense_Mutation_p.E375D|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000340291.2_Missense_Mutation_p.E377D|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000396638.2_Missense_Mutation_p.E377D	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CAGACTCAACCTCGAAGAGCT	0.557																																					p.E377D		.											.	SPAG8-91	0			c.G1131T						.						159.0	152.0	154.0					9																	35810505		2203	4300	6503	SO:0001628	intergenic_variant	26206	exon5			CTCAACCTCGAAG	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35810505C>A		102	1		148	34	NM_001039592	0	0	1	1	0	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.33|11.33	1.606940|1.606940	0.28623|0.28623	.|.	.|.	ENSG00000137098|ENSG00000137098	ENST00000340291;ENST00000484764;ENST00000396638|ENST00000497810	T;T;T|.	0.41400|.	1.0;1.11;1.11|.	5.38|5.38	0.853|0.853	0.19001|0.19001	.|.	0.085569|.	0.41097|.	D|.	0.000959|.	T|T	0.38957|0.38957	0.1060|0.1060	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	D;D|.	0.64830|.	0.994;0.994|.	P;P|.	0.61397|.	0.851;0.888|.	T|T	0.32929|0.32929	-0.9888|-0.9888	10|5	0.46703|.	T|.	0.11|.	-10.178|-10.178	3.12|3.12	0.06387|0.06387	0.2065:0.3628:0.0:0.4306|0.2065:0.3628:0.0:0.4306	.|.	377;377|.	E9PDV6;Q99932-2|.	.;.|.	D|M	377;375;377|375	ENSP00000340982:E377D;ENSP00000418072:E375D;ENSP00000379878:E377D|.	ENSP00000340982:E377D|.	E|R	-|-	3|2	2|0	SPAG8|SPAG8	35800505|35800505	0.006000|0.006000	0.16342|0.16342	0.042000|0.042000	0.18584|0.18584	0.106000|0.106000	0.19336|0.19336	-0.130000|-0.130000	0.10498|0.10498	0.587000|0.587000	0.29643|0.29643	0.650000|0.650000	0.86243|0.86243	GAG|AGG	.		0.557	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1		
RECK	8434	broad.mit.edu;bcgsc.ca	37	9	36102095	36102095	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:36102095G>T	ENST00000377966.3	+	12	1869	c.1303G>T	c.(1303-1305)Gat>Tat	p.D435Y		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	435					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TTCAAGATCAGATTGTGTGGA	0.398																																					p.D435Y		.											.	RECK-93	0			c.G1303T						.						94.0	95.0	94.0					9																	36102095		2203	4300	6503	SO:0001583	missense	8434	exon12			AGATCAGATTGTG	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1303G>T	9.37:g.36102095G>T	ENSP00000367202:p.Asp435Tyr	66	0		81	5	NM_021111	0	0	0	0	0	B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443350	0.83993	.	.	ENSG00000122707	ENST00000377966	T	0.59224	0.28	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.75788	0.3897	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77747	-0.2472	10	0.87932	D	0	-20.4538	17.1738	0.86836	0.0:0.0:1.0:0.0	.	435;435	A8K9D8;O95980	.;RECK_HUMAN	Y	435	ENSP00000367202:D435Y	ENSP00000367202:D435Y	D	+	1	0	RECK	36092095	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.537000	0.98070	2.726000	0.93360	0.655000	0.94253	GAT	.		0.398	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1		
GLIPR2	152007	ucsc.edu	37	9	36147782	36147782	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:36147782G>T	ENST00000377960.4	+	2	47		c.e2-1		GLIPR2_ENST00000377959.1_Splice_Site|GLIPR2_ENST00000396613.3_Splice_Site|GLIPR2_ENST00000474050.1_Splice_Site	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2						positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						AATCATTCCAGCTTCCAAACA	0.493																																					.		.											.	GLIPR2-93	0			c.14-1G>T						.						231.0	235.0	233.0					9																	36147782		2203	4300	6503	SO:0001630	splice_region_variant	152007	exon2			ATTCCAGCTTCCA	AY039756	CCDS6598.1, CCDS69595.1, CCDS75832.1, CCDS75833.1	9p13.3	2008-08-15	2008-08-15	2008-08-15	ENSG00000122694	ENSG00000122694			18007	protein-coding gene	gene with protein product		607141	"""chromosome 9 open reading frame 19"""	C9orf19		12137952, 11865038	Standard	NM_022343		Approved	GAPR-1	uc003zyz.3	Q9H4G4	OTTHUMG00000019900	ENST00000377960.4:c.14-1G>T	9.37:g.36147782G>T		80	3		84	30	NM_022343	0	0	0	0	0	Q5VZR1|Q8N2S6|Q8WWC9|Q8WX36	Splice_Site	SNP	ENST00000377960.4	37	CCDS6598.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050873	0.75960	.	.	ENSG00000122694	ENST00000377959;ENST00000377960	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1485	0.65367	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLIPR2	36137782	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.910000	0.87451	2.409000	0.81822	0.561000	0.74099	.	.		0.493	GLIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052414.1	NM_022343	Intron
SPATA31A3	727830	broad.mit.edu;bcgsc.ca;mdanderson.org	37	9	40705691	40705691	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:40705691C>A	ENST00000356699.5	+	4	3377	c.3348C>A	c.(3346-3348)ccC>ccA	p.P1116P	RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	1116					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTAGGAAGCCCAACTTAGAAA	0.483																																					p.P1116P		.											.	.	0			c.C3348A						.						115.0	101.0	105.0					9																	40705691		1560	3116	4676	SO:0001819	synonymous_variant	727830	exon4			GAAGCCCAACTTA			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A3"""	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.3348C>A	9.37:g.40705691C>A		321	0		429	61	NM_001083124	0	0	0	0	0		Silent	SNP	ENST00000356699.5	37	CCDS47969.1																																																																																			.		0.483	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124	
APBA1	320	hgsc.bcm.edu	37	9	72131953	72131953	+	Silent	SNP	C	C	T	rs149995729	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:72131953C>T	ENST00000265381.4	-	2	396	c.174G>A	c.(172-174)gaG>gaA	p.E58E		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	58					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CGCGGAGGTCCTCGAGGGCTC	0.711													C|||	20	0.00399361	0.0	0.0072	5008	,	,		13816	0.0		0.0119	False		,,,				2504	0.0031				p.E58E		.											.	APBA1-91	0			c.G174A						.	C		4,4360		0,4,2178	11.0	11.0	11.0		174	2.2	0.9	9	dbSNP_134	11	136,8348		1,134,4107	no	coding-synonymous	APBA1	NM_001163.3		1,138,6285	TT,TC,CC		1.603,0.0917,1.0897		58/838	72131953	140,12708	2182	4242	6424	SO:0001819	synonymous_variant	320	exon2			GAGGTCCTCGAGG	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.174G>A	9.37:g.72131953C>T		0	0		14	8	NM_001163	0	0	0	0	0	O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	CCDS6630.1																																																																																			C|0.995;T|0.005		0.711	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163	
MAMDC2	256691	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	72741314	72741314	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:72741314G>T	ENST00000377182.4	+	6	1500	c.883G>T	c.(883-885)Gct>Tct	p.A295S	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	295	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CGAGTTCAGTGCTCCTTACCC	0.567																																					p.A295S		.											.	MAMDC2-91	0			c.G883T						.						79.0	55.0	64.0					9																	72741314		2203	4300	6503	SO:0001583	missense	256691	exon6			TTCAGTGCTCCTT	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.883G>T	9.37:g.72741314G>T	ENSP00000366387:p.Ala295Ser	86	0		131	25	NM_153267	0	0	1	1	0	Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524359	0.85600	.	.	ENSG00000165072	ENST00000377182	T	0.02121	4.44	6.04	6.04	0.98038	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.47873	-0.9083	10	0.07482	T	0.82	-20.182	20.5792	0.99380	0.0:0.0:1.0:0.0	.	295	Q7Z304	MAMC2_HUMAN	S	295	ENSP00000366387:A295S	ENSP00000366387:A295S	A	+	1	0	MAMDC2	71931134	1.000000	0.71417	0.836000	0.33094	0.669000	0.39330	7.606000	0.82863	2.873000	0.98535	0.561000	0.74099	GCT	.		0.567	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267	
TRPM3	80036	broad.mit.edu	37	9	73240174	73240174	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:73240174G>T	ENST00000377111.2	-	13	1949	c.1706C>A	c.(1705-1707)gCt>gAt	p.A569D	TRPM3_ENST00000396280.5_Missense_Mutation_p.A428D|TRPM3_ENST00000377110.3_Missense_Mutation_p.A569D|TRPM3_ENST00000357533.2_Missense_Mutation_p.A583D|TRPM3_ENST00000358082.3_Missense_Mutation_p.A441D|TRPM3_ENST00000396285.1_Missense_Mutation_p.A416D|TRPM3_ENST00000377106.1_Missense_Mutation_p.A441D|TRPM3_ENST00000423814.3_Missense_Mutation_p.A596D|TRPM3_ENST00000360823.2_Missense_Mutation_p.A441D|TRPM3_ENST00000396292.4_Missense_Mutation_p.A441D|TRPM3_ENST00000377105.1_Missense_Mutation_p.A428D|TRPM3_ENST00000408909.2_Missense_Mutation_p.A428D	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	594					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCAGCGATAAGCCCCGCCCAT	0.577																																					p.A569D		.											.	TRPM3-521	0			c.C1706A						.						47.0	47.0	47.0					9																	73240174		2203	4300	6503	SO:0001583	missense	80036	exon13			CGATAAGCCCCGC	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1706C>A	9.37:g.73240174G>T	ENSP00000366315:p.Ala569Asp	96	0		69	3	NM_001007471	0	0	0	0	0	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37		.	.	.	.	.	.	.	.	.	.	G	34	5.342786	0.95783	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.88306	0.6401	M	0.83384	2.64	0.80722	D	1	D;D;D;D;D;D;P;P	0.89917	0.999;0.967;1.0;0.997;0.999;1.0;0.95;0.781	D;P;D;D;D;D;P;P	0.91635	0.986;0.748;0.999;0.954;0.969;0.999;0.712;0.558	D	0.88364	0.2990	10	0.72032	D	0.01	-14.227	20.5596	0.99324	0.0:0.0:1.0:0.0	.	569;569;569;583;441;428;551;416	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	D	569;569;441;441;428;583;428;416;441;441;596	ENSP00000366315:A569D;ENSP00000366314:A569D;ENSP00000366310:A441D;ENSP00000354066:A441D;ENSP00000366309:A428D;ENSP00000350140:A583D;ENSP00000386127:A428D;ENSP00000379581:A416D;ENSP00000379587:A441D;ENSP00000350791:A441D;ENSP00000389542:A596D	ENSP00000350140:A583D	A	-	2	0	TRPM3	72429994	1.000000	0.71417	0.906000	0.35671	0.998000	0.95712	9.659000	0.98597	2.868000	0.98415	0.555000	0.69702	GCT	.		0.577	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	
TRPM6	140803	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	77411734	77411734	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:77411734G>T	ENST00000360774.1	-	18	2551	c.2314C>A	c.(2314-2316)Ccc>Acc	p.P772T	TRPM6_ENST00000361255.3_Missense_Mutation_p.P767T|TRPM6_ENST00000449912.2_Missense_Mutation_p.P767T|TRPM6_ENST00000451710.3_Missense_Mutation_p.P772T|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.P772T|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	772					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGGGACTGGGGAACATGTGAC	0.373																																					p.P772T		.											.	TRPM6-335	0			c.C2314A						.						138.0	129.0	132.0					9																	77411734		2203	4300	6503	SO:0001583	missense	140803	exon18			ACTGGGGAACATG	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2314C>A	9.37:g.77411734G>T	ENSP00000354006:p.Pro772Thr	140	1		170	56	NM_017662	0	0	0	0	0	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695105	0.88830	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.73544	0.3600	L	0.57130	1.785	0.80722	D	1	D;D;P	0.89917	0.958;1.0;0.849	P;D;P	0.97110	0.749;1.0;0.623	T	0.67887	-0.5554	10	0.28530	T	0.3	.	19.7728	0.96373	0.0:0.0:1.0:0.0	.	435;772;767	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	T	772;772;767;767;772;435;435	ENSP00000354006:P772T;ENSP00000407341:P772T;ENSP00000396672:P767T;ENSP00000354962:P767T;ENSP00000366060:P772T	ENSP00000309693:P435T	P	-	1	0	TRPM6	76601554	1.000000	0.71417	0.875000	0.34327	0.979000	0.70002	9.869000	0.99810	2.687000	0.91594	0.655000	0.94253	CCC	.		0.373	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
VPS13A	23230	ucsc.edu	37	9	79968553	79968553	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:79968553A>G	ENST00000360280.3	+	54	7908	c.7648A>G	c.(7648-7650)Aca>Gca	p.T2550A	VPS13A_ENST00000376636.3_Missense_Mutation_p.T2511A|VPS13A_ENST00000376634.4_Missense_Mutation_p.T2550A|VPS13A_ENST00000357409.5_Missense_Mutation_p.T2550A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2550					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATAGGCATTACAAGGTTAGA	0.308																																					p.T2550A		.											.	VPS13A-161	0			c.A7648G						.						49.0	47.0	47.0					9																	79968553		2203	4300	6503	SO:0001583	missense	23230	exon54			GGCATTACAAGGT	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7648A>G	9.37:g.79968553A>G	ENSP00000353422:p.Thr2550Ala	207	3		239	29	NM_001018038	0	0	0	0	0	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.260984	0.80246	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.50548	0.92;0.74;0.83;0.92	5.56	5.56	0.83823	.	0.116551	0.64402	D	0.000018	T	0.65176	0.2666	L	0.60904	1.88	0.80722	D	1	P;D;D;D	0.89917	0.678;1.0;1.0;1.0	P;D;D;D	0.91635	0.755;0.997;0.999;0.999	T	0.64626	-0.6363	9	.	.	.	.	15.7065	0.77588	1.0:0.0:0.0:0.0	.	2511;2550;2550;2550	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	A	2550;2511;2550;2550	ENSP00000365821:T2550A;ENSP00000365823:T2511A;ENSP00000353422:T2550A;ENSP00000349985:T2550A	.	T	+	1	0	VPS13A	79158373	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.190000	0.89714	2.102000	0.63906	0.482000	0.46254	ACA	.		0.308	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
C9orf3	84909	broad.mit.edu	37	9	97522087	97522087	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:97522087G>T	ENST00000375315.2	+	1	22	c.22G>T	c.(22-24)Gcc>Tcc	p.A8S	C9orf3_ENST00000277198.2_Missense_Mutation_p.A8S|C9orf3_ENST00000297979.5_Missense_Mutation_p.A8S	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	8					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GCTGGACCCTGCCAGAGATGA	0.428																																					p.A8S		.											.	C9orf3-91	0			c.G22T						.						64.0	60.0	61.0					9																	97522087		2203	4300	6503	SO:0001583	missense	84909	exon2			GACCCTGCCAGAG	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.22G>T	9.37:g.97522087G>T	ENSP00000364464:p.Ala8Ser	97	2		115	18	NM_001193331	0	0	0	0	0	Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.925373	0.00493	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315	T;T;T	0.10763	2.84;2.89;3.05	4.84	1.16	0.20824	.	0.583394	0.17761	N	0.162888	T	0.01523	0.0049	N	0.00197	-1.87	0.09310	N	0.999997	B;B;B;B	0.09022	0.0;0.002;0.001;0.001	B;B;B;B	0.08055	0.001;0.003;0.001;0.002	T	0.41270	-0.9518	10	0.02654	T	1	-3.1513	2.1355	0.03761	0.1697:0.0823:0.2507:0.4973	.	8;8;8;8	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	S	8	ENSP00000277198:A8S;ENSP00000297979:A8S;ENSP00000364464:A8S	ENSP00000277198:A8S	A	+	1	0	C9orf3	96561908	0.953000	0.32496	0.840000	0.33206	0.864000	0.49448	0.747000	0.26290	0.034000	0.15491	-0.457000	0.05445	GCC	.		0.428	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823	
ERCC6L2	375748	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	98728916	98728916	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:98728916C>A	ENST00000288985.7	+	14	2358	c.2053C>A	c.(2053-2055)Cat>Aat	p.H685N	ERCC6L2_ENST00000437817.1_Missense_Mutation_p.H496N|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	685					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										ATCTAAAGAGCATCAAGGAGA	0.408																																					p.H685N		.											.	.	0			c.C2053A						.						126.0	117.0	120.0					9																	98728916		2203	4300	6503	SO:0001583	missense	375748	exon14			AAAGAGCATCAAG	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.2053C>A	9.37:g.98728916C>A	ENSP00000288985:p.His685Asn	144	1		139	37	NM_001010895	0	0	0	1	1	A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000288985.7	37	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.567261	0.45694	.	.	ENSG00000182150	ENST00000288985;ENST00000437817	D;D	0.89746	-2.53;-2.56	5.64	5.64	0.86602	.	0.000000	0.52532	D	0.000078	T	0.82001	0.4942	N	0.13235	0.315	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.74469	-0.3655	10	0.35671	T	0.21	-23.4272	19.5025	0.95103	0.0:1.0:0.0:0.0	.	496;685	Q5T890-2;Q5T890	.;RAD26_HUMAN	N	685;496	ENSP00000288985:H685N;ENSP00000416286:H496N	ENSP00000288985:H685N	H	+	1	0	C9orf102	97768737	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.838000	0.48199	2.937000	0.99478	0.650000	0.86243	CAT	.		0.408	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895	
TDRD7	23424	broad.mit.edu;bcgsc.ca	37	9	100234690	100234690	+	Silent	SNP	G	G	T	rs200338871		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:100234690G>T	ENST00000355295.4	+	10	2152	c.1857G>T	c.(1855-1857)ctG>ctT	p.L619L	TDRD7_ENST00000540902.1_5'UTR|TDRD7_ENST00000422139.2_Silent_p.L545L	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	619					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TTGTTGTTCTGTACGATACCT	0.428																																					p.L619L		.											.	TDRD7-93	0			c.G1857T						.						172.0	155.0	161.0					9																	100234690		2203	4300	6503	SO:0001819	synonymous_variant	23424	exon10			TGTTCTGTACGAT	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1857G>T	9.37:g.100234690G>T		170	1		195	9	NM_014290	0	0	8	8	0	A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Silent	SNP	ENST00000355295.4	37	CCDS6725.1																																																																																			G|1.000;A|0.000		0.428	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290	
GALNT12	79695	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	101606450	101606450	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:101606450C>A	ENST00000375011.3	+	8	1417	c.1417C>A	c.(1417-1419)Cag>Aag	p.Q473K		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	473	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TGTGGGACACCAGGTCATTCT	0.403																																					p.Q473K		.											.	GALNT12-92	0			c.C1417A						.						109.0	101.0	104.0					9																	101606450		2203	4300	6503	SO:0001583	missense	79695	exon8			GGACACCAGGTCA	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1417C>A	9.37:g.101606450C>A	ENSP00000364150:p.Gln473Lys	103	0		122	8	NM_024642	0	0	0	0	0	Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	C	8.628	0.892960	0.17613	.	.	ENSG00000119514	ENST00000375011	T	0.26373	1.74	5.46	3.48	0.39840	Ricin B-related lectin (1);Ricin B lectin (3);	0.110361	0.64402	D	0.000016	T	0.17662	0.0424	L	0.34521	1.04	0.30158	N	0.8025	B	0.30146	0.27	B	0.31812	0.136	T	0.13442	-1.0509	10	0.15066	T	0.55	.	9.9341	0.41541	0.1559:0.6934:0.1508:0.0	.	473	Q8IXK2	GLT12_HUMAN	K	473	ENSP00000364150:Q473K	ENSP00000364150:Q473K	Q	+	1	0	GALNT12	100646271	0.680000	0.27605	0.999000	0.59377	0.659000	0.38960	1.323000	0.33701	1.299000	0.44798	0.655000	0.94253	CAG	.		0.403	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642	
MRPL50	54534	broad.mit.edu;bcgsc.ca	37	9	104152827	104152827	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:104152827G>T	ENST00000374865.4	-	2	419	c.398C>A	c.(397-399)cCt>cAt	p.P133H	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	133						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATCTTGAATAGGGACATTATA	0.413																																					p.P133H		.											.	MRPL50-226	0			c.C398A						.						82.0	80.0	80.0					9																	104152827		2202	4298	6500	SO:0001583	missense	54534	exon2			TGAATAGGGACAT	AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.398C>A	9.37:g.104152827G>T	ENSP00000363999:p.Pro133His	140	0		208	7	NM_019051	0	0	60	62	2	B7Z358|Q5T7E0|Q9NX15	Missense_Mutation	SNP	ENST00000374865.4	37	CCDS6753.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417921	0.62622	.	.	ENSG00000136897	ENST00000374865	T	0.48836	0.8	5.9	5.9	0.94986	.	0.177594	0.40554	N	0.001075	T	0.71451	0.3341	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.74206	-0.3740	10	0.87932	D	0	-15.5497	16.9915	0.86355	0.0:0.0:1.0:0.0	.	133	Q8N5N7	RM50_HUMAN	H	133	ENSP00000363999:P133H	ENSP00000363999:P133H	P	-	2	0	MRPL50	103192648	1.000000	0.71417	0.987000	0.45799	0.510000	0.34073	4.466000	0.60148	2.793000	0.96121	0.563000	0.77884	CCT	.		0.413	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051	
OR13C5	138799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	107361140	107361140	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:107361140C>A	ENST00000374779.2	-	1	648	c.555G>T	c.(553-555)atG>atT	p.M185I		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M185I(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AGGCCAGTTTCATGACAGCTA	0.398																																					p.M185I		.											.	OR13C5-72	1	Substitution - Missense(1)	skin(1)	c.G555T						.						178.0	165.0	169.0					9																	107361140		2203	4300	6503	SO:0001583	missense	138799	exon1			CAGTTTCATGACA		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.555G>T	9.37:g.107361140C>A	ENSP00000363911:p.Met185Ile	376	0		451	51	NM_001004482	0	0	0	0	0	B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702911	0.30232	.	.	ENSG00000255800	ENST00000374779	T	0.00036	8.86	4.17	-0.202	0.13208	GPCR, rhodopsin-like superfamily (1);	0.343543	0.20627	U	0.088670	T	0.00039	0.0001	N	0.03154	-0.405	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.20773	-1.0265	10	0.29301	T	0.29	.	1.1392	0.01762	0.1526:0.415:0.1495:0.2828	.	185	Q8NGS8	O13C5_HUMAN	I	185	ENSP00000363911:M185I	ENSP00000363911:M185I	M	-	3	0	OR13C5	106400961	0.000000	0.05858	0.004000	0.12327	0.428000	0.31595	-0.873000	0.04214	0.076000	0.16826	-0.347000	0.07816	ATG	.		0.398	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482	
TAL2	6887	broad.mit.edu	37	9	108425002	108425002	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:108425002G>T	ENST00000334077.3	+	1	265	c.225G>T	c.(223-225)ctG>ctT	p.L75L		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	75					midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)		DNA binding (GO:0003677)										GGAACATTCTGGGGCTCTTCC	0.552			T	TRB@	T-ALL																																p.L75L		.		Dom	yes		9	9q31	6887	T-cell acute lymphocytic leukemia 2		L	.	TAL2-636	0			c.G225T						.						58.0	58.0	58.0					9																	108425002		2203	4300	6503	SO:0001819	synonymous_variant	6887	exon1			CATTCTGGGGCTC		CCDS6767.1	9q32	2013-05-21			ENSG00000186051	ENSG00000186051		"""Basic helix-loop-helix proteins"""	11557	protein-coding gene	gene with protein product		186855				1763056	Standard	NM_005421		Approved	bHLHa19	uc004bct.3	Q16559	OTTHUMG00000020424	ENST00000334077.3:c.225G>T	9.37:g.108425002G>T		57	0		96	4	NM_005421	0	0	0	0	0	A0AVI7	Silent	SNP	ENST00000334077.3	37	CCDS6767.1																																																																																			.		0.552	TAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053504.1	NM_005421	
AKAP2	11217	hgsc.bcm.edu	37	9	112811038	112811038	+	Missense_Mutation	SNP	C	C	T	rs78923754	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:112811038C>T	ENST00000374525.1	+	1	63	c.59C>T	c.(58-60)cCg>cTg	p.P20L	AKAP2_ENST00000510514.5_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000434623.2_Missense_Mutation_p.P20L|AKAP2_ENST00000555236.1_Intron	NM_001004065.4	NP_001004065.2	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	374										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CCTGGACCCCCGGAGTCTCCT	0.776													-|||	379	0.0756789	0.0703	0.0879	5008	,	,		9335	0.0298		0.0954	False		,,,				2504	0.1012				p.P20L		.											.	AKAP2-24	0			c.C59T						.	C	LEU/PRO,LEU/PRO,,	146,2418		2,142,1138	2.0	3.0	2.0		59,59,,	0.3	0.0	9	dbSNP_132	2	557,5611		13,531,2540	no	missense,missense,intron,intron	AKAP2,PALM2-AKAP2	NM_001004065.4,NM_001198656.1,NM_007203.4,NM_147150.2	98,98,,	15,673,3678	TT,TC,CC		9.0305,5.6942,8.0508	,,,	20/949,20/962,,	112811038	703,8029	1282	3084	4366	SO:0001583	missense	11217	exon1			GACCCCCGGAGTC	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000374525.1:c.59C>T	9.37:g.112811038C>T	ENSP00000363649:p.Pro20Leu	0	0		16	9	NM_001004065	0	0	1	1	0	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000374525.1	37	CCDS43861.1	184	0.08424908424908426	48	0.0975609756097561	42	0.11602209944751381	16	0.027972027972027972	78	0.10290237467018469	-	6.449	0.450901	0.12223	0.056942	0.090305	ENSG00000241978	ENST00000434623;ENST00000374525	T;T	0.44482	1.5;0.92	3.3	0.302	0.15786	.	.	.	.	.	T	0.00412	0.0013	.	.	.	0.58432	P	5.000000000032756E-6	B;B	0.11235	0.001;0.004	B;B	0.04013	0.001;0.001	T	0.06972	-1.0797	7	0.72032	D	0.01	-9.3294	7.3755	0.26825	0.0:0.6472:0.0:0.3528	.	20;21	Q9Y2D5-7;B1ALY1	.;.	L	20	ENSP00000404782:P20L;ENSP00000363649:P20L	ENSP00000363649:P20L	P	+	2	0	AKAP2	111850859	0.208000	0.23494	0.001000	0.08648	0.000000	0.00434	0.026000	0.13599	-0.068000	0.12953	-1.980000	0.00456	CCG	C|0.917;T|0.083		0.776	AKAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053609.3	NM_001004065	
DNAJC25	548645	hgsc.bcm.edu	37	9	114393784	114393784	+	Missense_Mutation	SNP	G	G	A	rs10980984	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:114393784G>A	ENST00000313525.3	+	1	153	c.97G>A	c.(97-99)Gtg>Atg	p.V33M	DNAJC25_ENST00000556107.1_Missense_Mutation_p.V33M|DNAJC25-GNG10_ENST00000374294.3_Missense_Mutation_p.V33M|LRRC37A5P_ENST00000374304.1_RNA	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	33						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						GCTGCTGCTGGTGCGGCCCGC	0.781													G|||	656	0.13099	0.0098	0.0807	5008	,	,		11406	0.3452		0.162	False		,,,				2504	0.0777				p.V33M		.											.	DNAJC25-GNG10-159	0			c.G97A						.	G	MET/VAL,MET/VAL	43,2235		0,43,1096	1.0	2.0	2.0		97,97	1.1	0.4	9	dbSNP_120	2	451,4585		3,445,2070	no	missense,missense	DNAJC25,DNAJC25-GNG10	NM_001015882.2,NM_004125.3	21,21	3,488,3166	AA,AG,GG		8.9555,1.8876,6.7542	possibly-damaging,possibly-damaging	33/361,33/154	114393784	494,6820	1139	2518	3657	SO:0001583	missense	552891	exon1			CTGCTGGTGCGGC		CCDS43862.1	9q31.3	2011-09-02			ENSG00000059769	ENSG00000059769		"""Heat shock proteins / DNAJ (HSP40)"""	34187	protein-coding gene	gene with protein product							Standard	NM_001015882		Approved	bA16L21.2.1	uc004bfl.3	Q9H1X3	OTTHUMG00000020491	ENST00000313525.3:c.97G>A	9.37:g.114393784G>A	ENSP00000320650:p.Val33Met	0	0		7	7	NM_004125	0	0	3	5	2	Q5QTD8|Q96BN9	Missense_Mutation	SNP	ENST00000313525.3	37	CCDS43862.1	399	0.18269230769230768	11	0.022357723577235773	29	0.08011049723756906	230	0.4020979020979021	129	0.17018469656992086	G	10.57	1.387903	0.25031	0.018876	0.089555	ENSG00000059769;ENSG00000059769;ENSG00000244115	ENST00000313525;ENST00000556107;ENST00000374294	T	0.47869	0.83	4.29	1.14	0.20703	Heat shock protein DnaJ, N-terminal (1);	1.517590	0.03748	N	0.256126	T	0.00012	0.0000	N	0.14661	0.345	0.51767	P	6.20000000000065E-5	B;B	0.31351	0.32;0.042	B;B	0.38056	0.264;0.037	T	0.36744	-0.9735	9	0.33940	T	0.23	-7.852	3.7234	0.08465	0.0851:0.142:0.4815:0.2914	rs10980984	33;33	Q9H1X3-3;Q9H1X3	.;DJC25_HUMAN	M	33	ENSP00000320650:V33M	ENSP00000320650:V33M	V	+	1	0	DNAJC25-GNG10;DNAJC25	113433605	0.099000	0.21834	0.381000	0.26106	0.005000	0.04900	0.270000	0.18607	0.370000	0.24538	0.462000	0.41574	GTG	G|0.806;A|0.194		0.781	DNAJC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156218.3	NM_001015882	
C9orf84	158401	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	114508596	114508596	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:114508596G>T	ENST00000318737.4	-	8	933	c.805C>A	c.(805-807)Cta>Ata	p.L269I	C9orf84_ENST00000394779.3_Missense_Mutation_p.L230I|C9orf84_ENST00000394777.4_Missense_Mutation_p.L230I|C9orf84_ENST00000374287.3_Missense_Mutation_p.L269I|C9orf84_ENST00000374283.5_Missense_Mutation_p.L333I	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	269										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTTAGGAATAGAGGAGTTAGT	0.343																																					p.L269I		.											.	C9orf84-92	0			c.C805A						.						117.0	116.0	116.0					9																	114508596		2203	4300	6503	SO:0001583	missense	158401	exon8			GGAATAGAGGAGT	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.805C>A	9.37:g.114508596G>T	ENSP00000322108:p.Leu269Ile	58	0		75	15	NM_173521	0	0	1	1	0	A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808895	0.31961	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	4.62	3.71	0.42584	.	0.240458	0.21614	N	0.071745	T	0.47040	0.1424	L	0.32530	0.975	0.09310	N	1	B;B;D;D	0.59767	0.077;0.253;0.961;0.986	B;B;P;P	0.55713	0.046;0.105;0.689;0.782	T	0.26467	-1.0102	10	0.33940	T	0.23	-1.266	9.837	0.40975	0.0:0.0:0.7953:0.2047	.	230;333;269;230	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	I	230;230;269;269;333	ENSP00000378259:L230I;ENSP00000378257:L230I;ENSP00000363405:L269I;ENSP00000322108:L269I;ENSP00000363401:L333I	ENSP00000322108:L269I	L	-	1	2	C9orf84	113548417	0.042000	0.20092	0.002000	0.10522	0.001000	0.01503	1.040000	0.30278	1.132000	0.42129	0.591000	0.81541	CTA	.		0.343	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521	
AMBP	259	broad.mit.edu	37	9	116840418	116840418	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:116840418C>A	ENST00000265132.3	-	1	334	c.72G>T	c.(70-72)acG>acT	p.T24T		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	24					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGTCGGGCGGCGTTGGCACAG	0.617																																					p.T24T		.											.	AMBP-91	0			c.G72T						.						108.0	118.0	114.0					9																	116840418		2203	4300	6503	SO:0001819	synonymous_variant	259	exon1			GGGCGGCGTTGGC	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.72G>T	9.37:g.116840418C>A		75	1		114	12	NM_001633	0	0	1	1	0	P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Silent	SNP	ENST00000265132.3	37	CCDS6800.1																																																																																			.		0.617	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633	
PAPPA	5069	ucsc.edu;bcgsc.ca;mdanderson.org	37	9	118950037	118950037	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:118950037C>A	ENST00000328252.3	+	2	1389	c.1020C>A	c.(1018-1020)agC>agA	p.S340R	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	340	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TCATTGCCAGCTACAATCAGC	0.552																																					p.S340R		.											.	PAPPA-77	0			c.C1020A						.						69.0	64.0	65.0					9																	118950037		2203	4300	6503	SO:0001583	missense	5069	exon2			TGCCAGCTACAAT		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1020C>A	9.37:g.118950037C>A	ENSP00000330658:p.Ser340Arg	130	2		160	36	NM_002581	0	0	0	0	0	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581484	0.28180	.	.	ENSG00000182752	ENST00000328252	T	0.50813	0.73	5.99	-0.0533	0.13818	.	0.254921	0.52532	D	0.000068	T	0.38692	0.1050	M	0.66939	2.045	0.80722	D	1	B	0.33583	0.418	B	0.24541	0.054	T	0.24297	-1.0164	10	0.49607	T	0.09	-11.0938	10.0905	0.42445	0.0:0.6079:0.0:0.3921	.	340	Q13219	PAPP1_HUMAN	R	340	ENSP00000330658:S340R	ENSP00000330658:S340R	S	+	3	2	PAPPA	117989858	1.000000	0.71417	0.722000	0.30670	0.100000	0.18952	2.196000	0.42686	-0.060000	0.13132	-0.137000	0.14449	AGC	.		0.552	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	
PSMD5	5711	broad.mit.edu	37	9	123580434	123580434	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:123580434G>T	ENST00000210313.3	-	10	1339	c.1265C>A	c.(1264-1266)gCa>gAa	p.A422E	PSMD5_ENST00000373904.5_Missense_Mutation_p.A379E|PSMD5_ENST00000604848.1_Intron	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	422					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						GGGTTGGTTTGCAATGGCCTG	0.433																																					p.A422E		.											.	PSMD5-90	0			c.C1265A						.						59.0	59.0	59.0					9																	123580434		2203	4300	6503	SO:0001583	missense	5711	exon10			TGGTTTGCAATGG	AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"""Proteasome (prosome, macropain) subunits"""	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.1265C>A	9.37:g.123580434G>T	ENSP00000210313:p.Ala422Glu	34	0		62	6	NM_005047	0	0	0	0	0	B4DZM8|Q15045|Q4VXG8	Missense_Mutation	SNP	ENST00000210313.3	37	CCDS6824.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685266	0.88639	.	.	ENSG00000095261	ENST00000210313;ENST00000373904	T;T	0.34275	1.37;1.37	5.96	5.96	0.96718	Armadillo-like helical (1);Armadillo-type fold (1);	0.046995	0.85682	D	0.000000	T	0.63792	0.2541	M	0.78637	2.42	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.60954	-0.7160	10	0.44086	T	0.13	.	19.4101	0.94667	0.0:0.0:1.0:0.0	.	379;422	B4DZM8;Q16401	.;PSMD5_HUMAN	E	422;379	ENSP00000210313:A422E;ENSP00000363011:A379E	ENSP00000210313:A422E	A	-	2	0	PSMD5	122620255	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.512000	0.81728	2.832000	0.97577	0.655000	0.94253	GCA	.		0.433	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053825.2	NM_005047	
PHF19	26147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	123624881	123624881	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:123624881C>A	ENST00000373896.3	-	11	1367	c.1115G>T	c.(1114-1116)gGa>gTa	p.G372V	PHF19_ENST00000419155.1_Missense_Mutation_p.G163V|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	372					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTGCTCTTTCCTCTCTTACG	0.627																																					p.G372V		.											.	PHF19-136	0			c.G1115T						.						94.0	100.0	98.0					9																	123624881		2203	4300	6503	SO:0001583	missense	26147	exon11			CTCTTTCCTCTCT	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.1115G>T	9.37:g.123624881C>A	ENSP00000363003:p.Gly372Val	91	0		105	24	NM_015651	0	0	4	4	0	Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	ENST00000373896.3	37	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935712	0.52972	.	.	ENSG00000119403	ENST00000544082;ENST00000373896;ENST00000419155;ENST00000453868	T;T;T	0.45276	1.93;0.91;0.9	4.54	4.54	0.55810	.	0.461733	0.21246	N	0.077736	T	0.47154	0.1430	L	0.34521	1.04	0.58432	D	0.999998	D	0.69078	0.997	D	0.63597	0.916	T	0.16837	-1.0389	10	0.17832	T	0.49	-5.4571	12.6485	0.56748	0.0:1.0:0.0:0.0	.	372	Q5T6S3	PHF19_HUMAN	V	372;372;163;163	ENSP00000363003:G372V;ENSP00000407433:G163V;ENSP00000395938:G163V	ENSP00000363003:G372V	G	-	2	0	PHF19	122664702	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.755000	0.47540	2.348000	0.79779	0.462000	0.41574	GGA	.		0.627	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308	
STXBP1	6812	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	130427557	130427557	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:130427557C>A	ENST00000373299.1	+	8	725	c.610C>A	c.(610-612)Cta>Ata	p.L204I	STXBP1_ENST00000373302.3_Missense_Mutation_p.L204I	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	204					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GCTGGCTCAGCTAATCCAGGA	0.547																																					p.L204I		.											.	STXBP1-91	0			c.C610A						.						226.0	184.0	198.0					9																	130427557		2203	4300	6503	SO:0001583	missense	6812	exon8			GCTCAGCTAATCC	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.610C>A	9.37:g.130427557C>A	ENSP00000362396:p.Leu204Ile	140	0		133	22	NM_001032221	0	0	13	15	2	B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560278	0.45590	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000373299	T;T	0.77489	-1.1;-1.1	5.34	3.4	0.38934	.	0.000000	0.85682	D	0.000000	T	0.67078	0.2855	L	0.47016	1.485	0.45554	D	0.998505	B;B	0.19583	0.037;0.03	B;B	0.21360	0.034;0.02	T	0.65619	-0.6124	10	0.46703	T	0.11	-23.946	6.0616	0.19841	0.0:0.665:0.1686:0.1664	.	204;204	P61764;P61764-2	STXB1_HUMAN;.	I	158;204;204	ENSP00000362399:L204I;ENSP00000362396:L204I	ENSP00000362396:L204I	L	+	1	2	STXBP1	129467378	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.870000	0.48451	2.510000	0.84645	0.561000	0.74099	CTA	.		0.547	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165	
TBC1D13	54662	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	131559410	131559410	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:131559410G>T	ENST00000372648.5	+	7	610	c.460G>T	c.(460-462)Gag>Tag	p.E154*	TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000539497.1_5'UTR|TBC1D13_ENST00000223865.8_Nonsense_Mutation_p.E154*	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	154	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CCCCCAGAATGAGTTTGAAAC	0.532																																					p.E154X		.											.	TBC1D13-90	0			c.G460T						.						116.0	116.0	116.0					9																	131559410		2203	4300	6503	SO:0001587	stop_gained	54662	exon7			CAGAATGAGTTTG	AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.460G>T	9.37:g.131559410G>T	ENSP00000361731:p.Glu154*	98	0		133	39	NM_018201	0	0	20	23	3	A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Nonsense_Mutation	SNP	ENST00000372648.5	37	CCDS6911.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432872	0.62844	.	.	ENSG00000107021	ENST00000372648;ENST00000223865	.	.	.	5.46	5.46	0.80206	.	0.108387	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-27.7855	18.2914	0.90131	0.0:0.0:1.0:0.0	.	.	.	.	X	154	.	ENSP00000223865:E154X	E	+	1	0	TBC1D13	130599231	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.825000	0.86693	2.576000	0.86940	0.561000	0.74099	GAG	.		0.532	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054496.1	NM_018201	
RAPGEF1	2889	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	134501621	134501621	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:134501621C>A	ENST00000372189.3	-	10	1462	c.1339G>T	c.(1339-1341)Ggg>Tgg	p.G447W	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.G465W|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.G464W|RAPGEF1_ENST00000481260.1_5'UTR	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	447					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GTCTGCTGCCCTGGGGCCAGA	0.657																																					p.G465W		.											.	RAPGEF1-849	0			c.G1393T						.						24.0	29.0	27.0					9																	134501621		1996	4157	6153	SO:0001583	missense	2889	exon10			GCTGCCCTGGGGC	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1339G>T	9.37:g.134501621C>A	ENSP00000361263:p.Gly447Trp	128	0		172	51	NM_198679	0	0	18	22	4	Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301363	0.60195	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000372191;ENST00000357686	T;T;T	0.29142	1.58;1.59;1.59	4.2	3.28	0.37604	.	0.568272	0.15860	N	0.241041	T	0.24353	0.0590	N	0.08118	0	0.22199	N	0.999291	D;P;P	0.52996	0.957;0.926;0.956	P;P;P	0.52267	0.497;0.497;0.694	T	0.06625	-1.0816	10	0.62326	D	0.03	.	10.7544	0.46228	0.0:0.9063:0.0:0.0937	.	464;447;465	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	W	447;464;341;447;465;427;373;142;464	ENSP00000361269:G464W;ENSP00000361263:G447W;ENSP00000361264:G465W	ENSP00000266110:G447W	G	-	1	0	RAPGEF1	133491442	0.014000	0.17966	0.813000	0.32504	0.827000	0.46813	0.238000	0.18004	2.060000	0.61445	0.655000	0.94253	GGG	.		0.657	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312	
VAV2	7410	broad.mit.edu;bcgsc.ca	37	9	136648640	136648640	+	Missense_Mutation	SNP	G	G	T	rs374011637		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:136648640G>T	ENST00000371850.3	-	19	1739	c.1708C>A	c.(1708-1710)Cct>Act	p.P570T	VAV2_ENST00000371851.1_Missense_Mutation_p.P560T|VAV2_ENST00000406606.3_Missense_Mutation_p.P560T	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	570					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TTGCAGGGAGGTATCACTTCC	0.647																																					p.P570T		.											.	VAV2-1273	0			c.C1708A						.	G	THR/PRO,THR/PRO	2,4404	4.2+/-10.8	0,2,2201	86.0	74.0	78.0		1708,1678	4.2	0.9	9		78	0,8600		0,0,4300	no	missense,missense	VAV2	NM_001134398.1,NM_003371.3	38,38	0,2,6501	TT,TG,GG		0.0,0.0454,0.0154	benign,benign	570/879,560/840	136648640	2,13004	2203	4300	6503	SO:0001583	missense	7410	exon19			AGGGAGGTATCAC		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1708C>A	9.37:g.136648640G>T	ENSP00000360916:p.Pro570Thr	170	1		185	9	NM_001134398	0	0	38	38	0	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	G	7.697	0.692214	0.15039	4.54E-4	0.0	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	D;D;D	0.93189	-3.18;-3.18;-3.18	4.24	4.24	0.50183	Src homology-3 domain (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.114248	0.64402	D	0.000013	D	0.90089	0.6904	L	0.39245	1.2	0.39445	D	0.967317	B;B;B	0.18863	0.003;0.031;0.003	B;B;B	0.17098	0.01;0.017;0.01	D	0.87723	0.2574	10	0.39692	T	0.17	.	16.9912	0.86354	0.0:0.0:1.0:0.0	.	560;570;560	P52735-2;P52735;P52735-3	.;VAV2_HUMAN;.	T	570;560;560;560	ENSP00000360916:P570T;ENSP00000360917:P560T;ENSP00000385362:P560T	ENSP00000317258:P560T	P	-	1	0	VAV2	135638461	1.000000	0.71417	0.934000	0.37439	0.132000	0.20833	6.587000	0.74071	2.076000	0.62316	0.313000	0.20887	CCT	.		0.647	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1		
ARSH	347527	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	2942061	2942061	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:2942061G>T	ENST00000381130.2	+	6	901		c.e6-1			NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H						cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ACCCTCTCCAGGTAAAATCCT	0.522																																					.		.											.	ARSH-130	0			c.902-1G>T						.						49.0	46.0	47.0					X																	2942061		2203	4300	6503	SO:0001630	splice_region_variant	347527	exon6			TCTCCAGGTAAAA	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.902-1G>T	X.37:g.2942061G>T		205	0		272	59	NM_001011719	0	0	0	0	0		Splice_Site	SNP	ENST00000381130.2	37	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	G	9.134	1.012246	0.19277	.	.	ENSG00000205667	ENST00000381130	.	.	.	3.79	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9536	0.71094	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARSH	2952061	1.000000	0.71417	0.118000	0.21660	0.041000	0.13682	7.615000	0.83006	1.507000	0.48752	0.583000	0.79449	.	.		0.522	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719	Intron
MXRA5	25878	broad.mit.edu;bcgsc.ca	37	X	3241451	3241451	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:3241451C>A	ENST00000217939.6	-	5	2429	c.2275G>T	c.(2275-2277)Gca>Tca	p.A759S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	759						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGACCTTCTGCAACATTGGTC	0.443																																					p.A759S		.											.	MXRA5-136	0			c.G2275T						.						112.0	97.0	102.0					X																	3241451		2203	4300	6503	SO:0001583	missense	25878	exon5			CTTCTGCAACATT	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2275G>T	X.37:g.3241451C>A	ENSP00000217939:p.Ala759Ser	92	0		151	7	NM_015419	0	0	3	3	0	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	14.98	2.698039	0.48307	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.65732	-0.17	3.63	3.63	0.41609	.	0.000000	0.39985	U	0.001215	T	0.64204	0.2577	L	0.29908	0.895	0.09310	N	1	D	0.61697	0.99	P	0.57244	0.816	T	0.60388	-0.7273	10	0.56958	D	0.05	.	15.1378	0.72583	0.0:1.0:0.0:0.0	.	759	Q9NR99	MXRA5_HUMAN	S	759	ENSP00000217939:A759S	ENSP00000217939:A759S	A	-	1	0	MXRA5	3251451	0.327000	0.24678	0.006000	0.13384	0.073000	0.16967	1.442000	0.35046	1.446000	0.47643	0.529000	0.55759	GCA	.		0.443	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
MXRA5	25878	bcgsc.ca	37	X	3242694	3242694	+	Missense_Mutation	SNP	C	C	A	rs112265369	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:3242694C>A	ENST00000217939.6	-	5	1186	c.1032G>T	c.(1030-1032)aaG>aaT	p.K344N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	344						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCAAGTGAATCTTGTACACAT	0.443																																					p.K344N		.											.	MXRA5-136	0			c.G1032T						.						124.0	90.0	102.0					X																	3242694		2203	4300	6503	SO:0001583	missense	25878	exon5			GTGAATCTTGTAC	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1032G>T	X.37:g.3242694C>A	ENSP00000217939:p.Lys344Asn	219	4		281	65	NM_015419	0	0	0	1	1	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	T	3.272	-0.148916	0.06585	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64085	-0.08	3.47	-4.58	0.03410	.	0.615914	0.13155	U	0.409574	T	0.39462	0.1079	N	0.20685	0.6	0.09310	N	1	B	0.33694	0.421	B	0.33042	0.157	T	0.23868	-1.0176	10	0.21014	T	0.42	.	10.542	0.45039	0.0:0.5872:0.1201:0.2927	.	344	Q9NR99	MXRA5_HUMAN	N	344	ENSP00000217939:K344N	ENSP00000217939:K344N	K	-	3	2	MXRA5	3252694	0.972000	0.33761	0.000000	0.03702	0.008000	0.06430	-0.019000	0.12546	-2.009000	0.00954	-1.632000	0.00781	AAG	C|0.999;T|0.001		0.443	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
WWC3	55841	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	10106875	10106875	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:10106875C>A	ENST00000380861.4	+	21	3374	c.2983C>A	c.(2983-2985)Cag>Aag	p.Q995K	WWC3_ENST00000454666.1_Missense_Mutation_p.Q995K	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	995					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TGAGCTGCGGCAGCGGTTGGA	0.697																																					p.Q995K		.											.	WWC3-134	0			c.C2983A						.						28.0	24.0	26.0					X																	10106875		2203	4298	6501	SO:0001583	missense	55841	exon21			CTGCGGCAGCGGT	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2983C>A	X.37:g.10106875C>A	ENSP00000370242:p.Gln995Lys	119	0		239	60	NM_015691	0	0	7	7	0	A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993563	0.54041	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.40476	1.03;1.03	5.32	5.32	0.75619	.	0.251895	0.41823	D	0.000804	T	0.46308	0.1386	L	0.53249	1.67	0.34189	D	0.671825	P	0.35139	0.486	B	0.40565	0.333	T	0.56829	-0.7914	9	.	.	.	-28.5273	18.3888	0.90475	0.0:1.0:0.0:0.0	.	995	Q9ULE0	WWC3_HUMAN	K	995;995;490	ENSP00000370242:Q995K;ENSP00000399584:Q995K	.	Q	+	1	0	WWC3	10066875	1.000000	0.71417	0.994000	0.49952	0.480000	0.33159	4.618000	0.61211	2.370000	0.80446	0.529000	0.55759	CAG	.		0.697	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	
MID1	4281	ucsc.edu;bcgsc.ca	37	X	10535274	10535274	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:10535274G>T	ENST00000317552.4	-	2	714	c.314C>A	c.(313-315)gCc>gAc	p.A105D	MID1_ENST00000380779.1_Missense_Mutation_p.A105D|MID1_ENST00000380785.1_Missense_Mutation_p.A105D|MID1_ENST00000380787.1_Missense_Mutation_p.A105D|MID1_ENST00000380782.2_Missense_Mutation_p.A105D|MID1_ENST00000453318.2_Missense_Mutation_p.A105D|MID1_ENST00000380780.1_Missense_Mutation_p.A105D	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	105					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGCGTCAAAGGCCCGCTCCCG	0.592																																					p.A105D		.											.	MID1-229	0			c.C314A						.						112.0	86.0	95.0					X																	10535274		2203	4300	6503	SO:0001583	missense	4281	exon2			TCAAAGGCCCGCT	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.314C>A	X.37:g.10535274G>T	ENSP00000312678:p.Ala105Asp	163	2		219	126	NM_001193277	0	0	0	0	0	B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580865	0.46006	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000413894;ENST00000423614	T;T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.98;0.97;0.54	5.64	5.64	0.86602	.	0.258922	0.42294	D	0.000727	T	0.50905	0.1643	L	0.46157	1.445	0.50313	D	0.999867	B;B;B;P;B;B	0.36392	0.276;0.177;0.042;0.551;0.276;0.073	B;B;B;B;B;B	0.38458	0.199;0.098;0.071;0.274;0.142;0.071	T	0.44862	-0.9300	10	0.28530	T	0.3	.	18.7983	0.92005	0.0:0.0:1.0:0.0	.	105;105;105;105;105;105	C9JZJ7;B7Z5K6;C9J453;O15344-2;A8K5A0;O15344	.;.;.;.;.;TRI18_HUMAN	D	105	ENSP00000414521:A105D;ENSP00000312678:A105D;ENSP00000370162:A105D;ENSP00000370156:A105D;ENSP00000370164:A105D;ENSP00000370157:A105D;ENSP00000370159:A105D;ENSP00000391154:A105D;ENSP00000387771:A105D	ENSP00000312678:A105D	A	-	2	0	MID1	10495274	1.000000	0.71417	0.867000	0.34043	0.994000	0.84299	7.433000	0.80362	2.386000	0.81285	0.600000	0.82982	GCC	.		0.592	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1		
FRMPD4	9758	bcgsc.ca	37	X	12736870	12736870	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:12736870G>T	ENST00000380682.1	+	16	4431	c.3925G>T	c.(3925-3927)Gat>Tat	p.D1309Y		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1309					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CACATTGAGAGATGGATGCCA	0.478																																					p.D1309Y		.											.	FRMPD4-263	0			c.G3925T						.						167.0	160.0	162.0					X																	12736870		2203	4300	6503	SO:0001583	missense	9758	exon16			TTGAGAGATGGAT	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3925G>T	X.37:g.12736870G>T	ENSP00000370057:p.Asp1309Tyr	270	4		369	49	NM_014728	0	0	0	0	0	A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657000	0.67586	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.08720	3.06	5.75	5.75	0.90469	.	0.100830	0.64402	D	0.000004	T	0.27697	0.0681	M	0.65975	2.015	0.45515	D	0.99847	D;D	0.89917	0.999;1.0	D;D	0.63033	0.91;0.91	T	0.00485	-1.1711	10	0.87932	D	0	-18.4512	18.9192	0.92518	0.0:0.0:1.0:0.0	.	1301;1309	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	Y	1309;1300;1298	ENSP00000370057:D1309Y	ENSP00000304583:D1298Y	D	+	1	0	FRMPD4	12646791	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.360000	0.97119	2.416000	0.81992	0.600000	0.82982	GAT	.		0.478	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712	
DDX53	168400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	23019100	23019100	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:23019100C>A	ENST00000327968.5	+	1	1014	c.926C>A	c.(925-927)gCt>gAt	p.A309D	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	309	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AGAGAGTTGGCTCTTCACGTG	0.393																																					p.A309D		.											.	DDX53-228	0			c.C926A						.						76.0	74.0	75.0					X																	23019100		2203	4300	6503	SO:0001583	missense	168400	exon1			AGTTGGCTCTTCA	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.926C>A	X.37:g.23019100C>A	ENSP00000368667:p.Ala309Asp	187	0		257	57	NM_182699	0	0	0	0	0	Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.337890	0.41398	.	.	ENSG00000184735	ENST00000327968	T	0.21734	1.99	4.3	3.36	0.38483	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.54870	0.1885	H	0.95294	3.65	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	T	0.66073	-0.6014	10	0.87932	D	0	-11.3746	10.0356	0.42127	0.2017:0.7983:0.0:0.0	.	309	Q86TM3	DDX53_HUMAN	D	309	ENSP00000368667:A309D	ENSP00000368667:A309D	A	+	2	0	DDX53	22929021	1.000000	0.71417	0.720000	0.30636	0.024000	0.10985	2.262000	0.43285	1.894000	0.54839	0.600000	0.82982	GCT	.		0.393	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699	
SUPT20HL1	100130302	ucsc.edu;bcgsc.ca	37	X	24382644	24382644	+	IGR	SNP	C	C	T	rs370418088		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:24382644C>T								AC004552.1 (15621 upstream) : PDK3 (100693 downstream)																							CCCAGCCCCCCACCAAATTCA	0.582																																					p.P589P		.											.	.	0			c.C1767T						.						21.0	20.0	21.0					X																	24382644		1568	3582	5150	SO:0001628	intergenic_variant	100130302	exon1			GCCCCCCACCAAA																													X.37:g.24382644C>T		259	3		387	48	NM_001136234	0	0	0	0	0		Silent	SNP		37																																																																																				.	0	0.582								
MAGEB10	139422	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	27840275	27840275	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:27840275C>A	ENST00000356790.2	+	3	1097	c.852C>A	c.(850-852)agC>agA	p.S284R		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	284	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CTGAAACCAGCAAGATGAAAG	0.448																																					p.S284R		.											.	MAGEB10-130	0			c.C852A						.						54.0	51.0	52.0					X																	27840275		2202	4300	6502	SO:0001583	missense	139422	exon3			AACCAGCAAGATG		CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.852C>A	X.37:g.27840275C>A	ENSP00000368304:p.Ser284Arg	80	0		116	15	NM_182506	0	0	0	0	0	Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	ENST00000356790.2	37	CCDS35221.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127672	0.37533	.	.	ENSG00000177689	ENST00000356790	T	0.06768	3.26	2.62	0.591	0.17465	.	0.268085	0.28989	U	0.013489	T	0.28830	0.0715	M	0.89658	3.05	0.22280	N	0.999233	D	0.89917	1.0	D	0.79784	0.993	T	0.04708	-1.0932	10	0.72032	D	0.01	.	7.6142	0.28148	0.0:0.481:0.519:0.0	.	284	Q96LZ2	MAGBA_HUMAN	R	284	ENSP00000368304:S284R	ENSP00000368304:S284R	S	+	3	2	MAGEB10	27750196	0.865000	0.29922	0.723000	0.30687	0.838000	0.47535	-0.140000	0.10342	0.032000	0.15435	0.422000	0.28245	AGC	.		0.448	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506	
MAGEB2	4113	broad.mit.edu;bcgsc.ca	37	X	30237541	30237541	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:30237541G>T	ENST00000378988.4	+	2	945	c.844G>T	c.(844-846)Gaa>Taa	p.E282*		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	282	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AGCCTATGCTGAAACCAGCAA	0.498																																					p.E282X		.											.	MAGEB2-131	0			c.G844T						.						47.0	46.0	46.0					X																	30237541		2202	4299	6501	SO:0001587	stop_gained	4113	exon2			TATGCTGAAACCA	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.844G>T	X.37:g.30237541G>T	ENSP00000368273:p.Glu282*	211	2		245	15	NM_002364	0	0	0	0	0	O75860	Nonsense_Mutation	SNP	ENST00000378988.4	37	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497172	0.64186	.	.	ENSG00000099399	ENST00000378988	.	.	.	3.27	1.44	0.22558	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.9901	0.09533	0.1441:0.2427:0.6131:0.0	.	.	.	.	X	282	.	ENSP00000368273:E282X	E	+	1	0	MAGEB2	30147462	0.986000	0.35501	0.002000	0.10522	0.267000	0.26476	2.744000	0.47450	0.257000	0.21650	0.436000	0.28706	GAA	.		0.498	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364	
DMD	1756	broad.mit.edu	37	X	31697546	31697546	+	Missense_Mutation	SNP	C	C	A	rs398124056		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:31697546C>A	ENST00000357033.4	-	53	8024	c.7818G>T	c.(7816-7818)tgG>tgT	p.W2606C	DMD_ENST00000541735.1_Missense_Mutation_p.W146C|DMD_ENST00000343523.2_Missense_Mutation_p.W146C|DMD_ENST00000474231.1_Missense_Mutation_p.W146C|DMD_ENST00000359836.1_Missense_Mutation_p.W146C|DMD_ENST00000378677.2_Missense_Mutation_p.W2602C|DMD_ENST00000378707.3_Missense_Mutation_p.W146C	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2606					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GACCCTCCTTCCATGACTCAA	0.388																																					p.W2606C		.											.	DMD-265	0			c.G7818T						.						144.0	113.0	124.0					X																	31697546		2202	4300	6502	SO:0001583	missense	1756	exon53			CTCCTTCCATGAC	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7818G>T	X.37:g.31697546C>A	ENSP00000354923:p.Trp2606Cys	62	1		79	8	NM_004006	0	0	0	0	0	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.17|15.17	2.754473|2.754473	0.49362|0.49362	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|T;T;T;T;T;T;T;T	.|0.50277	.|0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.000000	.|0.35805	.|U	.|0.002973	.|T	.|0.68384	.|0.2995	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D;D	.|0.89917	.|0.977;1.0;0.997;1.0;1.0;0.988;0.99;0.99;1.0;1.0	.|P;D;D;D;D;P;D;D;D;D	.|0.91635	.|0.634;0.999;0.911;0.999;0.999;0.854;0.957;0.957;0.999;0.994	.|T	.|0.67643	.|-0.5618	.|10	.|0.52906	.|T	.|0.07	.|.	19.3431|19.3431	0.94352|0.94352	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2598;2606;2602;1265;1262;146;146;146;146;146	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.	X|C	335|2598;1265;1262;302;2602;2606;146;146;2606;2483;146;146;146	.|ENSP00000350765:W302C;ENSP00000367948:W2602C;ENSP00000354923:W2606C;ENSP00000352894:W146C;ENSP00000340057:W146C;ENSP00000367979:W146C;ENSP00000444119:W146C;ENSP00000417123:W146C	.|ENSP00000340057:W146C	E|W	-|-	1|3	0|0	DMD|DMD	31607467|31607467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.187000|0.187000	0.23431|0.23431	6.345000|6.345000	0.72995|0.72995	2.521000|2.521000	0.84997|0.84997	0.544000|0.544000	0.68410|0.68410	GAA|TGG	.		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DMD	1756	broad.mit.edu;bcgsc.ca	37	X	32407761	32407761	+	Silent	SNP	G	G	T	rs398123953		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:32407761G>T	ENST00000357033.4	-	32	4581	c.4375C>A	c.(4375-4377)Cga>Aga	p.R1459R	DMD_ENST00000378677.2_Silent_p.R1455R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1459	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R1454*(2)|p.R1455*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGGAATAATCGAAACTTCATG	0.348																																					p.R1459R		.											.	DMD-265	3	Substitution - Nonsense(3)	skin(3)	c.C4375A	GRCh37	CM950342	DMD	M		.						99.0	88.0	92.0					X																	32407761		2202	4300	6502	SO:0001819	synonymous_variant	1756	exon32			ATAATCGAAACTT	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4375C>A	X.37:g.32407761G>T		68	0		109	6	NM_004006	0	0	0	0	0	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1																																																																																			.		0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
MED14	9282	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	40568698	40568698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:40568698G>T	ENST00000324817.1	-	10	1305	c.1187C>A	c.(1186-1188)tCa>tAa	p.S396*		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	396	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTTTCTATTGATAAGTGGTC	0.358																																					p.S396X		.											.	MED14-289	0			c.C1187A						.						63.0	54.0	57.0					X																	40568698		2203	4300	6503	SO:0001587	stop_gained	9282	exon10			TCTATTGATAAGT	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.1187C>A	X.37:g.40568698G>T	ENSP00000323720:p.Ser396*	98	0		141	16	NM_004229	0	0	8	8	0	Q4KMR7|Q9UNB3	Nonsense_Mutation	SNP	ENST00000324817.1	37	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	G	40	8.161983	0.98683	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1269	0.89589	0.0:0.0:1.0:0.0	.	.	.	.	X	396	.	ENSP00000323720:S396X	S	-	2	0	MED14	40453642	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.216000	0.71823	0.523000	0.50628	TCA	.		0.358	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229	
GPR34	2857	broad.mit.edu;bcgsc.ca	37	X	41554930	41554930	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:41554930G>T	ENST00000378142.4	+	3	328	c.44G>T	c.(43-45)aGc>aTc	p.S15I	CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000442742.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.S15I|CASK_ENST00000378163.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000318588.9_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	15					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						TCAGTCAGCAGCTGGCCTTAC	0.433																																					p.S15I		.											.	GPR34-131	0			c.G44T						.						114.0	91.0	99.0					X																	41554930		2203	4300	6503	SO:0001583	missense	2857	exon3			TCAGCAGCTGGCC	AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.44G>T	X.37:g.41554930G>T	ENSP00000367384:p.Ser15Ile	465	2		703	25	NM_001097579	0	0	1	1	0	O95853	Missense_Mutation	SNP	ENST00000378142.4	37	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	G	9.329	1.060157	0.19987	.	.	ENSG00000171659	ENST00000378142;ENST00000378138	T;T	0.73047	-0.71;-0.71	5.28	3.46	0.39613	.	0.681848	0.13653	N	0.372145	T	0.59878	0.2226	L	0.59436	1.845	0.09310	N	1	P	0.37955	0.612	B	0.32289	0.143	T	0.58250	-0.7669	10	0.66056	D	0.02	-2.267	3.9811	0.09495	0.3333:0.2589:0.4078:0.0	.	15	Q9UPC5	GPR34_HUMAN	I	15	ENSP00000367384:S15I;ENSP00000367378:S15I	ENSP00000367378:S15I	S	+	2	0	GPR34	41439874	0.098000	0.21812	0.371000	0.25978	0.432000	0.31715	0.709000	0.25734	1.004000	0.39156	0.594000	0.82650	AGC	.		0.433	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300	
MAOA	4128	bcgsc.ca	37	X	43590512	43590512	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:43590512G>T	ENST00000338702.3	+	7	793	c.670G>T	c.(670-672)Ggt>Tgt	p.G224C	MAOA_ENST00000497485.1_3'UTR|MAOA_ENST00000542639.1_Missense_Mutation_p.G91C	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	224					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	AGGTGGATCTGGTCAAGTGAG	0.463																																					p.G224C		.											.	MAOA-194	0			c.G670T						.						134.0	102.0	113.0					X																	43590512		2203	4300	6503	SO:0001583	missense	4128	exon7			GGATCTGGTCAAG		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.670G>T	X.37:g.43590512G>T	ENSP00000340684:p.Gly224Cys	223	3		267	25	NM_000240	0	0	70	80	10	B4DF46|Q16426	Missense_Mutation	SNP	ENST00000338702.3	37	CCDS14260.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.971121	0.74246	.	.	ENSG00000189221	ENST00000338702;ENST00000542639	D;D	0.91945	-2.94;-2.94	5.76	5.76	0.90799	Amine oxidase (1);	0.191033	0.56097	D	0.000021	D	0.96534	0.8869	M	0.84433	2.695	0.53005	D	0.999968	D	0.89917	1.0	D	0.87578	0.998	D	0.96274	0.9201	10	0.49607	T	0.09	.	18.9682	0.92704	0.0:0.0:1.0:0.0	.	224	P21397	AOFA_HUMAN	C	224;91	ENSP00000340684:G224C;ENSP00000440846:G91C	ENSP00000340684:G224C	G	+	1	0	MAOA	43475456	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	3.039000	0.49791	2.428000	0.82296	0.597000	0.82753	GGT	.		0.463	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240	
CDK16	5127	ucsc.edu;bcgsc.ca	37	X	47086026	47086026	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:47086026G>T	ENST00000357227.4	+	10	1385	c.961G>T	c.(961-963)Gag>Tag	p.E321*	CDK16_ENST00000457458.2_Nonsense_Mutation_p.E327*|CDK16_ENST00000276052.6_Nonsense_Mutation_p.E395*|CDK16_ENST00000518022.1_Nonsense_Mutation_p.E321*	NM_006201.4	NP_006192.1	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	321	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				exocytosis (GO:0006887)|growth hormone secretion (GO:0030252)|neuron projection development (GO:0031175)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|spermatogenesis (GO:0007283)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						ATACTCCAATGAGGTGGTGAC	0.547																																					p.E395X		.											.	CDK16-564	0			c.G1183T						.						114.0	93.0	100.0					X																	47086026		2203	4300	6503	SO:0001587	stop_gained	5127	exon10			TCCAATGAGGTGG		CCDS14276.1, CCDS48101.1, CCDS55408.1	Xp11	2011-11-08	2009-12-16	2009-12-16	ENSG00000102225	ENSG00000102225		"""Cyclin-dependent kinases"""	8749	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase"""	311550	"""PCTAIRE protein kinase 1"""	PCTK1		1437147, 19884882	Standard	NM_033018		Approved	PCTAIRE, PCTAIRE1, PCTGAIRE, FLJ16665	uc011mll.2	Q00536	OTTHUMG00000021438	ENST00000357227.4:c.961G>T	X.37:g.47086026G>T	ENSP00000349762:p.Glu321*	246	4		302	58	NM_001170460	0	0	91	118	27	A8K280|B7Z7C8|J3KN74|J3KQP7	Nonsense_Mutation	SNP	ENST00000357227.4	37	CCDS14276.1	.	.	.	.	.	.	.	.	.	.	G	40	8.217951	0.98712	.	.	ENSG00000102225	ENST00000457458;ENST00000357227;ENST00000540877;ENST00000540311;ENST00000517426;ENST00000518022;ENST00000276052;ENST00000523344	.	.	.	5.62	3.83	0.44106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.5568	11.0169	0.47693	0.0:0.1367:0.7179:0.1454	.	.	.	.	X	327;321;419;273;321;321;395;78	.	ENSP00000276052:E395X	E	+	1	0	CDK16	46970970	1.000000	0.71417	0.691000	0.30163	0.991000	0.79684	9.695000	0.98691	0.538000	0.28769	0.529000	0.55759	GAG	.		0.547	CDK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056406.2	NM_006201	
ZNF182	7569	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	47836739	47836739	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:47836739G>T	ENST00000396965.1	-	7	1097	c.747C>A	c.(745-747)ctC>ctA	p.L249L	ZNF182_ENST00000305127.6_Silent_p.L249L|ZNF182_ENST00000376943.3_Silent_p.L230L	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						AATGTACAATGAGGTGTGACT	0.403																																					p.L249L		.											.	ZNF182-132	0			c.C747A						.						79.0	76.0	77.0					X																	47836739		2203	4300	6503	SO:0001819	synonymous_variant	7569	exon7			TACAATGAGGTGT	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.747C>A	X.37:g.47836739G>T		53	1		85	20	NM_006962	0	0	3	6	3	A2IDD7|Q3KP67|Q96QH7	Silent	SNP	ENST00000396965.1	37	CCDS35236.1																																																																																			.		0.403	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962	
TBC1D25	4943	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	48417292	48417292	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:48417292G>T	ENST00000376771.4	+	4	737	c.396G>T	c.(394-396)ttG>ttT	p.L132F	TBC1D25_ENST00000537536.1_Intron|snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000476141.1_3'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	132					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CAGGCCCATTGCTAGAAGACT	0.542																																					p.L132F		.											.	TBC1D25-131	0			c.G396T						.						89.0	73.0	79.0					X																	48417292		2203	4300	6503	SO:0001583	missense	4943	exon4			CCCATTGCTAGAA	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.396G>T	X.37:g.48417292G>T	ENSP00000365962:p.Leu132Phe	184	1		232	16	NM_002536	0	0	1	1	0	Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	CCDS35242.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.064|5.064	0.197391|0.197391	0.09599|0.09599	.|.	.|.	ENSG00000068354|ENSG00000068354	ENST00000427713|ENST00000376771;ENST00000418627	.|T;T	.|0.53206	.|0.63;0.63	5.4|5.4	1.41|1.41	0.22369|0.22369	.|.	.|0.337088	.|0.27240	.|N	.|0.020272	T|T	0.45316|0.45316	0.1336|0.1336	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.63880	.|0.993;0.993;0.983	.|P;P;P	.|0.56343	.|0.796;0.796;0.725	T|T	0.34850|0.34850	-0.9812|-0.9812	6|10	0.02654|0.46703	T|T	1|0.11	-0.6149|-0.6149	4.4006|4.4006	0.11385|0.11385	0.089:0.2706:0.5008:0.1395|0.089:0.2706:0.5008:0.1395	.|.	.|136;74;132	.|B4DF03;B4DGU3;Q3MII6	.|.;.;TBC25_HUMAN	S|F	81|132;148	.|ENSP00000365962:L132F;ENSP00000402268:L148F	ENSP00000387764:A81S|ENSP00000365962:L132F	A|L	+|+	1|3	0|2	TBC1D25|TBC1D25	48302236|48302236	0.997000|0.997000	0.39634|0.39634	0.955000|0.955000	0.39395|0.39395	0.222000|0.222000	0.24845|0.24845	0.385000|0.385000	0.20685|0.20685	0.564000|0.564000	0.29238|0.29238	0.529000|0.529000	0.55759|0.55759	GCT|TTG	.		0.542	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536	
WDR45	11152	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	48934319	48934319	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:48934319C>T	ENST00000376372.3	-	5	507	c.326G>A	c.(325-327)cGc>cAc	p.R109H	PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000553851.1_Intron|PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000485908.1_Missense_Mutation_p.R74H|WDR45_ENST00000322995.8_Missense_Mutation_p.R109H|WDR45_ENST00000465431.1_5'Flank|WDR45_ENST00000356463.3_Missense_Mutation_p.R110H|WDR45_ENST00000376368.2_Missense_Mutation_p.R110H|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000473974.1_Missense_Mutation_p.R109H|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000396681.4_Missense_Mutation_p.R109H	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	109					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						ATGGCGCATGCGCACAGAAAG	0.622																																					p.R110H		.											.	WDR45-131	0			c.G329A						.						72.0	56.0	61.0					X																	48934319		2203	4300	6503	SO:0001583	missense	11152	exon6			CGCATGCGCACAG	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.326G>A	X.37:g.48934319C>T	ENSP00000365551:p.Arg109His	287	2		445	92	NM_007075	0	0	114	114	0	A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	CCDS35250.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893402	0.52121	.	.	ENSG00000196998	ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000475880;ENST00000474053;ENST00000419567;ENST00000476728;ENST00000465382	T;T;T;T;T;T;T;T;T;T;T;T	0.77620	-0.38;-0.38;-1.11;-1.11;-0.38;-1.11;-0.38;-1.11;-1.11;-1.11;-1.11;-0.38	3.87	3.87	0.44632	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79046	0.4380	M	0.85710	2.77	0.80722	D	1	B;B;B;B;B	0.26602	0.062;0.021;0.056;0.011;0.154	B;B;B;B;B	0.19946	0.004;0.009;0.027;0.009;0.022	T	0.80946	-0.1155	10	0.54805	T	0.06	-12.0059	14.6194	0.68574	0.0:1.0:0.0:0.0	.	109;109;74;110;109	C9J471;Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.;.;.;.;WIPI4_HUMAN	H	109;109;110;74;109;110;109;75;134;127;74;109	ENSP00000365551:R109H;ENSP00000365543:R109H;ENSP00000348848:R110H;ENSP00000419897:R74H;ENSP00000417211:R109H;ENSP00000365546:R110H;ENSP00000379913:R109H;ENSP00000418919:R75H;ENSP00000420728:R134H;ENSP00000393640:R127H;ENSP00000419324:R74H;ENSP00000420534:R109H	ENSP00000365543:R109H	R	-	2	0	WDR45	48821263	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.375000	0.66173	2.182000	0.69389	0.529000	0.55759	CGC	.		0.622	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075	
USP27X	389856	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	49646192	49646192	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:49646192G>T	ENST00000508866.2	+	1	1723	c.1282G>T	c.(1282-1284)Gaa>Taa	p.E428*	USP27X-AS1_ENST00000437322.2_lincRNA	NM_001145073.1	NP_001138545.1	A6NNY8	UBP27_HUMAN	ubiquitin specific peptidase 27, X-linked	428					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			endometrium(7)	7						ACATGAGTCAGAAAAAGTGAA	0.438																																					p.E428X		.											.	USP27X-472	0			c.G1282T						.						13.0	9.0	11.0					X																	49646192		692	1583	2275	SO:0001587	stop_gained	389856	exon1			GAGTCAGAAAAAG	AW851065	CCDS65260.1	Xp11.23	2007-10-05	2005-08-08			ENSG00000273820		"""Ubiquitin-specific peptidases"""	13486	protein-coding gene	gene with protein product			"""ubiquitin specific protease 27, X chromosome"", ""ubiquitin specific protease 27, X-linked"""			12838346	Standard	NM_001145073		Approved	USP27	uc004dop.3	A6NNY8		ENST00000508866.2:c.1282G>T	X.37:g.49646192G>T	ENSP00000475071:p.Glu428*	243	1		336	68	NM_001145073	0	0	17	17	0		Nonsense_Mutation	SNP	ENST00000508866.2	37																																																																																				.		0.438	USP27X-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000060837.3	XM_372213	
CCNB3	85417	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	50052072	50052072	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:50052072G>T	ENST00000376042.1	+	6	1201	c.903G>T	c.(901-903)aaG>aaT	p.K301N	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.K301N|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	301					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ACTTTAGGAAGCCACCAGTAT	0.413																																					p.K301N		.											.	CCNB3-482	0			c.G903T						.						107.0	90.0	96.0					X																	50052072		2203	4300	6503	SO:0001583	missense	85417	exon5			TAGGAAGCCACCA	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.903G>T	X.37:g.50052072G>T	ENSP00000365210:p.Lys301Asn	86	1		144	26	NM_033031	0	0	1	1	0	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	9.858	1.195404	0.22037	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.38887	1.11;1.11	3.3	-1.77	0.07982	.	314.505000	0.00166	N	0.000000	T	0.52741	0.1753	M	0.63843	1.955	0.09310	N	1	D	0.69078	0.997	P	0.57911	0.829	T	0.41197	-0.9522	9	.	.	.	.	3.4789	0.07595	0.4958:0.0:0.313:0.1912	.	301	Q8WWL7	CCNB3_HUMAN	N	301	ENSP00000365210:K301N;ENSP00000276014:K301N	.	K	+	3	2	CCNB3	50068812	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.470000	0.02346	-0.633000	0.05545	0.594000	0.82650	AAG	.		0.413	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1		
HUWE1	10075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	53607986	53607986	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:53607986C>A	ENST00000342160.3	-	42	5978	c.5521G>T	c.(5521-5523)Gtt>Ttt	p.V1841F	HUWE1_ENST00000262854.6_Splice_Site_p.V1841F			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1841					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAGCGAACAACCTAGTAAAGA	0.448																																					p.V1841F		.											.	HUWE1-280	0			c.G5521T						.						44.0	32.0	36.0					X																	53607986		2203	4300	6503	SO:0001630	splice_region_variant	10075	exon43			GAACAACCTAGTA	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.5521-1G>T	X.37:g.53607986C>A		87	0		129	21	NM_031407	0	0	0	0	0	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.62|19.62	3.862482|3.862482	0.71949|0.71949	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.39592	.|1.07;1.07	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.62962|0.62962	0.2471|0.2471	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.70016	.|0.96;0.967	T|T	0.63681|0.63681	-0.6582|-0.6582	5|10	.|0.59425	.|D	.|0.04	.|.	17.7626|17.7626	0.88468|0.88468	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1841;1841	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	V|F	874|1841	.|ENSP00000340648:V1841F;ENSP00000262854:V1841F	.|ENSP00000262854:V1841F	G|V	-|-	2|1	0|0	HUWE1|HUWE1	53624711|53624711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.392000|7.392000	0.79840|0.79840	2.467000|2.467000	0.83353|0.83353	0.600000|0.600000	0.82982|0.82982	GGT|GTT	.		0.448	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	Missense_Mutation
AMER1	139285	ucsc.edu	37	X	63409906	63409906	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:63409906C>A	ENST00000330258.3	-	2	3533	c.3261G>T	c.(3259-3261)ctG>ctT	p.L1087L	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	1087	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GGACCCTGGGCAGCTGAGGAA	0.617																																					p.L1087L		.											.	.	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)	c.G3261T						.						15.0	17.0	17.0					X																	63409906		1987	4159	6146	SO:0001819	synonymous_variant	139285	exon2			CCTGGGCAGCTGA	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.3261G>T	X.37:g.63409906C>A		208	4		354	42	NM_152424	0	0	1	1	0	A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	CCDS14377.2																																																																																			.		0.617	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
MTMR8	55613	broad.mit.edu	37	X	63579298	63579298	+	Missense_Mutation	SNP	C	C	A	rs201096276		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:63579298C>A	ENST00000374852.3	-	2	201	c.134G>T	c.(133-135)cGg>cTg	p.R45L	MTMR8_ENST00000453546.1_Missense_Mutation_p.R45L	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	45						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TGTTTCTTTCCGGGCTGCACC	0.403																																					p.R45L		.											.	MTMR8-195	1	Whole gene deletion(1)	ovary(1)	c.G134T						.						103.0	93.0	96.0					X																	63579298		2203	4300	6503	SO:0001583	missense	55613	exon2			TCTTTCCGGGCTG	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.134G>T	X.37:g.63579298C>A	ENSP00000363985:p.Arg45Leu	59	1		82	5	NM_017677	0	0	0	0	0	Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930257	0.34096	.	.	ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400	T;T	0.81163	-1.46;-1.46	3.56	1.76	0.24704	.	0.302135	0.19440	U	0.114201	T	0.80470	0.4629	M	0.87180	2.865	0.31234	N	0.696029	B;P	0.34562	0.451;0.457	B;B	0.35278	0.066;0.199	T	0.78234	-0.2283	10	0.72032	D	0.01	.	7.3132	0.26485	0.0:0.763:0.0:0.237	.	45;45	B4DQL0;Q96EF0	.;MTMR8_HUMAN	L	45;45;44	ENSP00000394003:R45L;ENSP00000363985:R45L	ENSP00000247400:R44L	R	-	2	0	MTMR8	63496023	0.437000	0.25593	0.266000	0.24541	0.997000	0.91878	1.416000	0.34759	0.077000	0.16863	0.513000	0.50165	CGG	.		0.403	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677	
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs200185441		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome																												p.Q58L		.											.	AR-661	2	Substitution - Missense(2)	lung(1)|endometrium(1)	c.A173T	GRCh37	CM033749	AR	M	rs5902610	.						8.0	11.0	10.0					X																	66765161		2116	4153	6269	SO:0001583	missense	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	TGCTGCAGCAGCA	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.173A>T	X.37:g.66765161A>T	ENSP00000363822:p.Gln58Leu	35	0		74	4	NM_000044	0	0	0	0	0	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.20	1.568808	0.28003	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69040	-0.37;-0.37;-0.37	.	.	.	.	0.157519	0.30235	N	0.010084	T	0.46541	0.1398	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.39800	-0.9596	8	0.62326	D	0.03	.	.	.	.	.	58;58	E7EVX6;D3YPQ2	.;.	L	58	ENSP00000363822:Q58L;ENSP00000421155:Q58L;ENSP00000379359:Q58L	ENSP00000363822:Q58L	Q	+	2	0	AR	66681886	0.997000	0.39634	0.872000	0.34217	0.495000	0.33615	1.386000	0.34419	0.000000	0.14550	0.000000	0.15137	CAG	.		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044	
YIPF6	286451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	67741213	67741213	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:67741213G>T	ENST00000462683.1	+	5	1052		c.e5-1		YIPF6_ENST00000374622.2_Splice_Site	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6						intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CCTTTTCTCAGAATGCTGCAA	0.428																																					.		.											.	YIPF6-130	0			c.180-1G>T						.						104.0	90.0	94.0					X																	67741213		2203	4300	6503	SO:0001630	splice_region_variant	286451	exon4			TTCTCAGAATGCT	BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"""Yip1 domain family"""	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.309-1G>T	X.37:g.67741213G>T		84	0		153	82	NM_001195214	0	0	0	0	0	B4E1U7|G5E997|Q5JP08	Splice_Site	SNP	ENST00000462683.1	37	CCDS14389.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326596	0.60743	.	.	ENSG00000181704	ENST00000462683;ENST00000451537;ENST00000374622	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4407	0.67314	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	YIPF6	67657938	1.000000	0.71417	0.972000	0.41901	0.808000	0.45660	6.857000	0.75455	2.284000	0.76573	0.513000	0.50165	.	.		0.428	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834	Intron
YIPF6	286451	broad.mit.edu	37	X	67751770	67751770	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:67751770C>G	ENST00000462683.1	+	7	1384	c.640C>G	c.(640-642)Cta>Gta	p.L214V	YIPF6_ENST00000374622.2_Missense_Mutation_p.L171V	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	214					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CCGCAGAGCCCTAGCTGTTTA	0.388																																					p.L214V		.											.	YIPF6-130	0			c.C640G						.						166.0	117.0	133.0					X																	67751770		2195	4293	6488	SO:0001583	missense	286451	exon7			AGAGCCCTAGCTG	BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"""Yip1 domain family"""	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.640C>G	X.37:g.67751770C>G	ENSP00000417573:p.Leu214Val	75	2		91	11	NM_173834	0	0	8	21	13	B4E1U7|G5E997|Q5JP08	Missense_Mutation	SNP	ENST00000462683.1	37	CCDS14389.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611083	0.46631	.	.	ENSG00000181704	ENST00000462683;ENST00000451537;ENST00000374622	T;T;T	0.44482	0.92;0.92;0.92	5.8	4.95	0.65309	Yip1 domain (1);	0.067802	0.64402	D	0.000017	T	0.72285	0.3441	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.98	T	0.79117	-0.1935	10	0.87932	D	0	-25.3709	11.606	0.51033	0.0:0.9123:0.0:0.0877	.	171;214	G5E997;Q96EC8	.;YIPF6_HUMAN	V	214;171;171	ENSP00000417573:L214V;ENSP00000401799:L171V;ENSP00000363751:L171V	ENSP00000363751:L171V	L	+	1	2	YIPF6	67668495	1.000000	0.71417	0.139000	0.22197	0.138000	0.21146	5.740000	0.68629	1.205000	0.43262	0.600000	0.82982	CTA	.		0.388	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834	
STARD8	9754	ucsc.edu;bcgsc.ca	37	X	67940921	67940921	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:67940921C>A	ENST00000252336.6	+	8	2337	c.1965C>A	c.(1963-1965)atC>atA	p.I655I	STARD8_ENST00000374597.3_Silent_p.I655I|STARD8_ENST00000374599.3_Silent_p.I735I	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	655	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTGAGCCCATCTTCACCAGCA	0.562																																					p.I735I		.											.	STARD8-196	0			c.C2205A						.						101.0	85.0	91.0					X																	67940921		2203	4300	6503	SO:0001819	synonymous_variant	9754	exon9			GCCCATCTTCACC	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1965C>A	X.37:g.67940921C>A		227	3		355	87	NM_001142503	0	0	0	1	1	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Silent	SNP	ENST00000252336.6	37	CCDS14390.1																																																																																			.		0.562	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725	
MED12	9968	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	70352313	70352313	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:70352313C>A	ENST00000374080.3	+	31	4372	c.4340C>A	c.(4339-4341)gCt>gAt	p.A1447D	MED12_ENST00000333646.6_Missense_Mutation_p.A1447D|MED12_ENST00000374102.1_Missense_Mutation_p.A1447D			Q93074	MED12_HUMAN	mediator complex subunit 12	1447					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTAAAGGCTGCTGGGGAAGAA	0.542			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																														p.A1447D		.		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	.	MED12-272	0			c.C4340A						.						63.0	58.0	60.0					X																	70352313		1936	4127	6063	SO:0001583	missense	9968	exon31			AGGCTGCTGGGGA	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4340C>A	X.37:g.70352313C>A	ENSP00000363193:p.Ala1447Asp	219	0		301	29	NM_005120	0	0	24	26	2	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681973	0.88542	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	D;T;T;T;T	0.84800	-1.9;1.3;1.3;1.3;1.3	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.92143	0.7509	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.986;0.997;0.999	D	0.93409	0.6767	10	0.87932	D	0	-11.2909	16.6815	0.85292	0.0:1.0:0.0:0.0	.	1447;1294;1447;1447	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	D	1447;1447;1447;1447;1415;192	ENSP00000333125:A1447D;ENSP00000363215:A1447D;ENSP00000363193:A1447D;ENSP00000414203:A1415D;ENSP00000408388:A192D	ENSP00000333125:A1447D	A	+	2	0	MED12	70269038	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.072000	0.76777	2.199000	0.70637	0.523000	0.50628	GCT	.		0.542	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	
TAF1	6872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	70596893	70596893	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:70596893C>A	ENST00000373790.4	+	5	614	c.563C>A	c.(562-564)tCa>tAa	p.S188*	TAF1_ENST00000276072.3_Nonsense_Mutation_p.S209*|TAF1_ENST00000423759.1_Nonsense_Mutation_p.S209*|TAF1_ENST00000449580.1_Nonsense_Mutation_p.S188*	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	188	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TCCTCTGACTCAGAATCTGAG	0.498																																					p.S209X		.											.	TAF1-900	0			c.C626A						.						112.0	94.0	100.0					X																	70596893		2203	4300	6503	SO:0001587	stop_gained	6872	exon5			CTGACTCAGAATC		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.563C>A	X.37:g.70596893C>A	ENSP00000362895:p.Ser188*	139	0		211	43	NM_004606	0	0	0	0	0	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Nonsense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	37	6.554987	0.97658	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	.	.	.	5.53	4.65	0.58169	.	0.137162	0.50627	D	0.000103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2144	0.59851	0.0:0.9215:0.0:0.0785	.	.	.	.	X	188;188;209;209	.	ENSP00000276072:S209X	S	+	2	0	TAF1	70513618	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.490000	0.60319	2.472000	0.83506	0.529000	0.55759	TCA	.		0.498	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
TAF1	6872	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	70598293	70598293	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:70598293G>T	ENST00000373790.4	+	7	1190	c.1139G>T	c.(1138-1140)aGa>aTa	p.R380I	TAF1_ENST00000276072.3_Missense_Mutation_p.R401I|TAF1_ENST00000423759.1_Missense_Mutation_p.R401I|TAF1_ENST00000449580.1_Missense_Mutation_p.R380I	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	380	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ATAAAATCTAGAATGATAGAG	0.408																																					p.R401I		.											.	TAF1-900	0			c.G1202T						.						111.0	96.0	101.0					X																	70598293		2203	4300	6503	SO:0001583	missense	6872	exon7			AATCTAGAATGAT		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1139G>T	X.37:g.70598293G>T	ENSP00000362895:p.Arg380Ile	169	0		202	12	NM_004606	0	0	0	0	0	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	9.816	1.184593	0.21870	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.08896	3.04;3.09;3.09;3.04	5.27	1.02	0.19986	.	0.803881	0.12159	N	0.494146	T	0.03477	0.0100	N	0.03608	-0.345	0.09310	N	1	B;B	0.18166	0.001;0.026	B;B	0.17722	0.006;0.019	T	0.42582	-0.9443	10	0.45353	T	0.12	.	5.2413	0.15473	0.3787:0.1337:0.4875:0.0	.	380;401	P21675;P21675-2	TAF1_HUMAN;.	I	380;380;401;401	ENSP00000362895:R380I;ENSP00000389000:R380I;ENSP00000406549:R401I;ENSP00000276072:R401I	ENSP00000276072:R401I	R	+	2	0	TAF1	70515018	0.001000	0.12720	0.010000	0.14722	0.804000	0.45430	0.418000	0.21230	-0.177000	0.10690	-0.322000	0.08575	AGA	.		0.408	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
CDX4	1046	hgsc.bcm.edu;broad.mit.edu	37	X	72667507	72667507	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:72667507G>T	ENST00000373514.2	+	1	418	c.418G>T	c.(418-420)Gac>Tac	p.D140Y		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	140					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					TGTCCCGACGGACGCAGGCGC	0.657																																					p.D140Y		.											.	CDX4-130	0			c.G418T						.						17.0	17.0	17.0					X																	72667507		2194	4277	6471	SO:0001583	missense	1046	exon1			CCGACGGACGCAG	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.418G>T	X.37:g.72667507G>T	ENSP00000362613:p.Asp140Tyr	25	0		78	12	NM_005193	0	0	0	0	0	A1A513|Q5JS20	Missense_Mutation	SNP	ENST00000373514.2	37	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	.	8.062	0.768443	0.15983	.	.	ENSG00000131264	ENST00000373514	T	0.46451	0.87	2.08	2.08	0.27032	Caudal-like activation domain (1);	0.313739	0.29908	N	0.010887	T	0.53867	0.1823	M	0.62723	1.935	0.22620	N	0.99893	D	0.89917	1.0	D	0.74674	0.984	T	0.29058	-1.0024	10	0.49607	T	0.09	-15.393	7.0099	0.24857	0.0:0.0:1.0:0.0	.	140	O14627	CDX4_HUMAN	Y	140	ENSP00000362613:D140Y	ENSP00000362613:D140Y	D	+	1	0	CDX4	72584232	0.552000	0.26505	0.024000	0.17045	0.006000	0.05464	4.479000	0.60236	1.336000	0.45506	0.432000	0.28606	GAC	.		0.657	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193	
ATRX	546	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	76918898	76918898	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:76918898C>A	ENST00000373344.5	-	12	4307	c.4093G>T	c.(4093-4095)Gaa>Taa	p.E1365*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.E1327*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1365					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CCTTTGACTTCTTTATGCTCT	0.393			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																														p.E1365X		.		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	ATRX-248	1	Unknown(1)	bone(1)	c.G4093T						.						187.0	155.0	166.0					X																	76918898		2203	4295	6498	SO:0001587	stop_gained	546	exon12			TGACTTCTTTATG	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4093G>T	X.37:g.76918898C>A	ENSP00000362441:p.Glu1365*	108	1		128	26	NM_000489	0	0	1	1	0	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	45	11.472191	0.99565	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	4.22	4.22	0.49857	.	0.143963	0.46442	U	0.000299	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-12.139	16.2231	0.82269	0.0:1.0:0.0:0.0	.	.	.	.	X	1365;1327;1292	.	ENSP00000362441:E1365X	E	-	1	0	ATRX	76805554	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.193000	0.50997	1.821000	0.53095	0.600000	0.82982	GAA	.		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
SATL1	340562	bcgsc.ca	37	X	84362768	84362768	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:84362768G>T	ENST00000395409.3	-	1	1206	c.646C>A	c.(646-648)Caa>Aaa	p.Q216K	SATL1_ENST00000332921.5_Missense_Mutation_p.Q216K|SATL1_ENST00000509231.1_Missense_Mutation_p.Q403K			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	216	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GTGCCTGATTGGCTGGTGCCT	0.532																																					p.Q403K		.											.	SATL1-175	0			c.C1207A						.						201.0	137.0	159.0					X																	84362768		2203	4300	6503	SO:0001583	missense	340562	exon1			CTGATTGGCTGGT	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.646C>A	X.37:g.84362768G>T	ENSP00000378804:p.Gln216Lys	398	6		547	47	NM_001012980	0	0	0	0	0	A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37		.	.	.	.	.	.	.	.	.	.	G	14.22	2.469979	0.43839	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.45668	0.89;0.89;0.89	4.26	3.36	0.38483	.	.	.	.	.	T	0.50616	0.1626	M	0.65975	2.015	0.09310	N	1	P;P	0.45126	0.767;0.851	B;P	0.50440	0.344;0.641	T	0.35251	-0.9796	9	0.40728	T	0.16	-0.9824	10.7235	0.46055	0.0:0.0:0.8076:0.1924	.	216;403	Q86VE3;E9PB72	SATL1_HUMAN;.	K	216;216;403	ENSP00000378804:Q216K;ENSP00000329115:Q216K;ENSP00000425421:Q403K	ENSP00000329115:Q216K	Q	-	1	0	SATL1	84249424	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.739000	0.26173	0.858000	0.35431	0.556000	0.70494	CAA	.		0.532	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339	
SYTL4	94121	bcgsc.ca	37	X	99941088	99941088	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:99941088C>A	ENST00000372989.1	-	15	1679	c.1348G>T	c.(1348-1350)Ggt>Tgt	p.G450C	SYTL4_ENST00000263033.5_Missense_Mutation_p.G450C|SYTL4_ENST00000276141.6_Missense_Mutation_p.G450C|SYTL4_ENST00000455616.1_Missense_Mutation_p.G450C|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000454200.2_Missense_Mutation_p.G452C	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	450	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCAAAACGACCATGATGCCAA	0.463																																					p.G450C		.											.	SYTL4-132	0			c.G1348T						.						71.0	58.0	63.0					X																	99941088		2203	4300	6503	SO:0001583	missense	94121	exon14			AACGACCATGATG		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1348G>T	X.37:g.99941088C>A	ENSP00000362080:p.Gly450Cys	139	4		157	42	NM_001129896	0	0	0	0	0	Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885473	0.91814	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.08984	3.03;3.03;3.03;3.03;3.03	5.88	5.88	0.94601	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.098056	0.64402	D	0.000001	T	0.29355	0.0731	M	0.67397	2.05	0.58432	D	0.999996	D	0.89917	1.0	D	0.79784	0.993	T	0.00262	-1.1867	9	.	.	.	-18.0692	19.1445	0.93459	0.0:1.0:0.0:0.0	.	450	Q96C24	SYTL4_HUMAN	C	450;450;452;450;450	ENSP00000362080:G450C;ENSP00000390252:G450C;ENSP00000403556:G452C;ENSP00000276141:G450C;ENSP00000263033:G450C	.	G	-	1	0	SYTL4	99827744	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.294000	0.78760	2.471000	0.83476	0.600000	0.82982	GGT	.		0.463	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737	
NOX1	27035	ucsc.edu;bcgsc.ca	37	X	100105369	100105369	+	Missense_Mutation	SNP	T	T	C	rs35468984	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:100105369T>C	ENST00000372966.3	-	9	1109	c.904A>G	c.(904-906)Atg>Gtg	p.M302V	NOX1_ENST00000217885.5_Missense_Mutation_p.M302V|NOX1_ENST00000372960.4_Missense_Mutation_p.M265V|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	302	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GATGGGTGCATAACAACCTGT	0.458													T|||	7	0.0018543	0.0053	0.0	3775	,	,		15492	0.0		0.0	False		,,,				2504	0.0				p.M302V		.											.	NOX1-131	0			c.A904G						.	T	VAL/MET,VAL/MET	11,3821		0,9,2,1622,568	29.0	26.0	27.0		904,904	1.2	0.1	X	dbSNP_126	27	0,6726		0,0,0,2428,1870	yes	missense,missense	NOX1	NM_007052.4,NM_013955.2	21,21	0,9,2,4050,2438	CC,CT,C,TT,T		0.0,0.2871,0.1042	benign,benign	302/565,302/516	100105369	11,10547	2201	4298	6499	SO:0001583	missense	27035	exon9			GGTGCATAACAAC	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.904A>G	X.37:g.100105369T>C	ENSP00000362057:p.Met302Val	245	2		320	38	NM_013955	0	0	0	0	0	A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	CCDS14474.1	3	0.0018083182640144665	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	T	3.147	-0.175095	0.06421	0.002871	0.0	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960	D;D;D	0.91351	-2.83;-2.83;-2.83	3.87	1.2	0.21068	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.371258	0.28182	N	0.016293	T	0.74207	0.3686	N	0.11364	0.135	0.34103	D	0.662052	B;B;B	0.30563	0.285;0.006;0.075	B;B;B	0.36959	0.237;0.007;0.063	T	0.71961	-0.4434	10	0.15499	T	0.54	-5.3607	9.5281	0.39175	0.0:0.0:0.3485:0.6515	rs35468984	265;302;302	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	V	302;302;265	ENSP00000362057:M302V;ENSP00000217885:M302V;ENSP00000362051:M265V	ENSP00000217885:M302V	M	-	1	0	NOX1	99992025	0.990000	0.36364	0.088000	0.20740	0.830000	0.47004	0.556000	0.23438	0.363000	0.24346	0.345000	0.21793	ATG	T|0.691;0|0.003		0.458	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052	
XKRX	402415	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	100169962	100169962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:100169962C>A	ENST00000372956.2	-	3	1319	c.715G>T	c.(715-717)Gaa>Taa	p.E239*	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000328526.5_Nonsense_Mutation_p.E252*			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CAGAGGACTTCTAGTGGCCCA	0.502																																					p.E239X		.											.	XKRX-130	0			c.G715T						.						109.0	99.0	102.0					X																	100169962		2203	4300	6503	SO:0001587	stop_gained	402415	exon3			GGACTTCTAGTGG	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.715G>T	X.37:g.100169962C>A	ENSP00000362047:p.Glu239*	296	2		358	64	NM_212559	0	0	0	0	0	B2RNN6|B4DKU2|Q5H9J6	Nonsense_Mutation	SNP	ENST00000372956.2	37	CCDS14476.2	.	.	.	.	.	.	.	.	.	.	C	41	8.764600	0.98945	.	.	ENSG00000182489	ENST00000328526;ENST00000372956	.	.	.	5.52	3.61	0.41365	.	0.263513	0.42420	D	0.000703	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-6.7099	14.542	0.68002	0.0:0.7297:0.2703:0.0	.	.	.	.	X	252;239	.	ENSP00000327570:E252X	E	-	1	0	XKRX	100056618	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	4.475000	0.60210	1.060000	0.40578	0.544000	0.68410	GAA	.		0.502	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559	
DRP2	1821	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	100500030	100500030	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:100500030G>T	ENST00000395209.3	+	10	1606	c.1079G>T	c.(1078-1080)aGa>aTa	p.R360I	DRP2_ENST00000541709.1_Missense_Mutation_p.R282I|DRP2_ENST00000402866.1_Missense_Mutation_p.R360I|DRP2_ENST00000538510.1_Missense_Mutation_p.R360I	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	360	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCCTGGGAAAGAGCAATTTCA	0.507																																					p.R360I		.											.	DRP2-132	0			c.G1079T						.						191.0	186.0	188.0					X																	100500030		2203	4300	6503	SO:0001583	missense	1821	exon10			GGGAAAGAGCAAT	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1079G>T	X.37:g.100500030G>T	ENSP00000378635:p.Arg360Ile	218	0		314	41	NM_001939	0	0	0	0	0	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810997	0.90707	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.34	5.34	0.76211	WW/Rsp5/WWP (6);	0.050915	0.85682	D	0.000000	D	0.91573	0.7338	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92754	0.6218	10	0.87932	D	0	-8.6462	17.7184	0.88344	0.0:0.0:1.0:0.0	.	360	Q13474	DRP2_HUMAN	I	360;360;282;360	ENSP00000385038:R360I;ENSP00000378635:R360I;ENSP00000444752:R282I;ENSP00000441051:R360I	ENSP00000378635:R360I	R	+	2	0	DRP2	100386686	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.230000	0.95299	2.221000	0.72209	0.422000	0.28245	AGA	.		0.507	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939	
VSIG1	340547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	107320376	107320376	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:107320376C>A	ENST00000217957.5	+	7	1046	c.929C>A	c.(928-930)aCt>aAt	p.T310N	VSIG1_ENST00000415430.3_Missense_Mutation_p.T346N	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	310						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						ATTCATGAGACTGGCCCTGAT	0.522																																					p.T346N		.											.	VSIG1-132	0			c.C1037A						.						114.0	103.0	106.0					X																	107320376		2203	4300	6503	SO:0001583	missense	340547	exon8			ATGAGACTGGCCC	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.929C>A	X.37:g.107320376C>A	ENSP00000217957:p.Thr310Asn	157	0		296	62	NM_001170553	0	0	0	0	0	C9J4P2|Q6MZS4	Missense_Mutation	SNP	ENST00000217957.5	37	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	C	8.410	0.843933	0.16963	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.75821	-0.97;-0.74	4.57	-5.71	0.02413	.	2.715710	0.01040	N	0.004297	T	0.60353	0.2262	L	0.50333	1.59	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.39840	-0.9594	10	0.14656	T	0.56	.	1.4184	0.02306	0.4755:0.168:0.1095:0.247	.	346;310	C9J4P2;Q86XK7	.;VSIG1_HUMAN	N	346;310	ENSP00000402219:T346N;ENSP00000217957:T310N	ENSP00000217957:T310N	T	+	2	0	VSIG1	107207032	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.223000	0.09177	-1.396000	0.02071	0.422000	0.28245	ACT	.		0.522	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607	
COL4A5	1287	broad.mit.edu;bcgsc.ca	37	X	107829959	107829959	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:107829959G>T	ENST00000361603.2	+	19	1391	c.1147G>T	c.(1147-1149)Ggc>Tgc	p.G383C	COL4A5_ENST00000328300.6_Missense_Mutation_p.G383C	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	383	Triple-helical region.		G -> D (in APSX; juvenile type).		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGGTCCACCTGGCCTTCCTGG	0.438									Alport syndrome with Diffuse Leiomyomatosis																												p.G383C		.											.	COL4A5-133	0			c.G1147T						.						102.0	97.0	99.0					X																	107829959		2203	4300	6503	SO:0001583	missense	1287	exon19	Familial Cancer Database		CCACCTGGCCTTC	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1147G>T	X.37:g.107829959G>T	ENSP00000354505:p.Gly383Cys	398	1		433	15	NM_000495	0	0	1	1	0	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244390	0.59103	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.97553	-4.43;-4.43	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.99140	0.9703	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99047	1.0826	10	0.87932	D	0	.	17.8659	0.88795	0.0:0.0:1.0:0.0	.	383;383	E7EVY4;P29400	.;CO4A5_HUMAN	C	383	ENSP00000331902:G383C;ENSP00000354505:G383C	ENSP00000331902:G383C	G	+	1	0	COL4A5	107716615	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.570000	0.73996	2.152000	0.67230	0.284000	0.19432	GGC	.		0.438	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
ALG13	79868	ucsc.edu;bcgsc.ca	37	X	110980045	110980045	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:110980045C>A	ENST00000394780.3	+	23	2645	c.2633C>A	c.(2632-2634)tCa>tAa	p.S878*	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Nonsense_Mutation_p.S774*	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	878					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						AGTACCACTTCAGTTTCCTCA	0.458																																					p.S878X		.											.	ALG13-130	0			c.C2633A						.						245.0	205.0	217.0					X																	110980045		1568	3582	5150	SO:0001587	stop_gained	79868	exon23			CCACTTCAGTTTC	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2633C>A	X.37:g.110980045C>A	ENSP00000378260:p.Ser878*	204	3		263	64	NM_001099922	0	0	5	5	0	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Nonsense_Mutation	SNP	ENST00000394780.3	37	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676586	0.88445	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	.	.	.	5.31	4.41	0.53225	.	0.305370	0.31323	N	0.007854	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-0.0818	13.4381	0.61096	0.1613:0.8387:0.0:0.0	.	.	.	.	X	774;878;511	.	ENSP00000251943:S774X	S	+	2	0	ALG13	110866701	0.723000	0.28027	0.980000	0.43619	0.366000	0.29705	2.452000	0.44961	1.092000	0.41356	0.600000	0.82982	TCA	.		0.458	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466	
ZBTB33	10009	broad.mit.edu;bcgsc.ca	37	X	119387850	119387850	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:119387850G>T	ENST00000326624.2	+	2	808	c.580G>T	c.(580-582)Gat>Tat	p.D194Y	ZBTB33_ENST00000557385.1_Missense_Mutation_p.D194Y	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	194					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						tgatgatgatgatgTCATTTT	0.398																																					p.D194Y		.											.	ZBTB33-132	0			c.G580T						.						48.0	43.0	44.0					X																	119387850		2203	4298	6501	SO:0001583	missense	10009	exon2			GATGATGATGTCA	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.580G>T	X.37:g.119387850G>T	ENSP00000314153:p.Asp194Tyr	88	1		146	21	NM_006777	0	0	1	1	0	B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	ENST00000326624.2	37	CCDS14596.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183370	0.57800	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.21543	2.0;2.0	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000001	T	0.42698	0.1214	M	0.63843	1.955	0.58432	D	0.999999	D	0.71674	0.998	D	0.63192	0.912	T	0.05582	-1.0876	10	0.33141	T	0.24	-9.5139	18.2055	0.89853	0.0:0.0:1.0:0.0	.	194	Q86T24	KAISO_HUMAN	Y	194	ENSP00000314153:D194Y;ENSP00000450969:D194Y	ENSP00000314153:D194Y	D	+	1	0	ZBTB33;AC002086.1	119271878	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.310000	0.96267	2.523000	0.85059	0.594000	0.82650	GAT	.		0.398	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777	
ELF4	2000	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	129205092	129205092	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:129205092G>T	ENST00000308167.5	-	7	1111	c.732C>A	c.(730-732)tcC>tcA	p.S244S	ELF4_ENST00000335997.7_Silent_p.S244S	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						ACACAGCTTTGGAGTCCACCA	0.517			T	ERG	AML																																p.S244S		.		Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	.	ELF4-659	0			c.C732A						.						192.0	159.0	170.0					X																	129205092		2203	4300	6503	SO:0001819	synonymous_variant	2000	exon7			AGCTTTGGAGTCC	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.732C>A	X.37:g.129205092G>T		101	3		147	13	NM_001421	0	0	3	8	5		Silent	SNP	ENST00000308167.5	37	CCDS14617.1																																																																																			.		0.517	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421	
IGSF1	3547	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	130411109	130411109	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:130411109C>A	ENST00000361420.3	-	14	2491	c.2412G>T	c.(2410-2412)caG>caT	p.Q804H	IGSF1_ENST00000370910.1_Missense_Mutation_p.Q795H|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370904.1_Missense_Mutation_p.Q795H|IGSF1_ENST00000370903.3_Missense_Mutation_p.Q809H			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	804	Ig-like C2-type 8.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGCTCATATGCTGGTGGGGGG	0.512																																					p.Q809H		.											.	IGSF1-133	0			c.G2427T						.						97.0	105.0	102.0					X																	130411109		2203	4300	6503	SO:0001583	missense	3547	exon14			CATATGCTGGTGG	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2412G>T	X.37:g.130411109C>A	ENSP00000355010:p.Gln804His	84	0		136	10	NM_001170961	0	0	1	1	0	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657597	0.29425	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.39	0.36	0.16097	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.764508	0.11183	N	0.590723	T	0.10208	0.0250	L	0.31752	0.955	0.09310	N	1	B;P;P	0.47484	0.208;0.708;0.896	P;P;P	0.48524	0.552;0.516;0.58	T	0.22977	-1.0201	10	0.56958	D	0.05	.	4.2409	0.10647	0.1574:0.4561:0.0:0.3865	.	795;248;804	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	H	795;804;795;809	ENSP00000359947:Q795H;ENSP00000355010:Q804H;ENSP00000359941:Q795H;ENSP00000359940:Q809H	ENSP00000355010:Q804H	Q	-	3	2	IGSF1	130238790	0.668000	0.27493	0.539000	0.28077	0.470000	0.32858	0.102000	0.15272	-0.049000	0.13379	-0.191000	0.12829	CAG	.		0.512	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1		
TFDP3	51270	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	132352122	132352122	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:132352122G>T	ENST00000310125.4	-	1	254	c.166C>A	c.(166-168)Caa>Aaa	p.Q56K		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	56					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					ATTACCACTTGCTGGTCAATG	0.567																																					p.Q56K		.											.	TFDP3-131	0			c.C166A						.						97.0	78.0	85.0					X																	132352122		2203	4300	6503	SO:0001583	missense	51270	exon1			CCACTTGCTGGTC	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.166C>A	X.37:g.132352122G>T	ENSP00000385461:p.Gln56Lys	170	0		234	23	NM_016521	0	0	0	0	0	Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560957	0.27827	.	.	ENSG00000183434	ENST00000310125	T	0.23552	1.9	0.235	0.235	0.15431	.	.	.	.	.	T	0.18551	0.0445	L	0.50333	1.59	0.38461	D	0.947209	P	0.43542	0.81	B	0.36666	0.23	T	0.11397	-1.0589	9	0.59425	D	0.04	.	6.1977	0.20559	3.0E-4:0.0:0.9996:0.0	.	56	Q5H9I0	TFDP3_HUMAN	K	56	ENSP00000385461:Q56K	ENSP00000385461:Q56K	Q	-	1	0	TFDP3	132179788	1.000000	0.71417	0.176000	0.23000	0.176000	0.22953	2.730000	0.47335	0.288000	0.22398	0.292000	0.19580	CAA	.		0.567	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521	
GPR112	139378	bcgsc.ca	37	X	135427145	135427145	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:135427145C>A	ENST00000394143.1	+	6	1571	c.1280C>A	c.(1279-1281)gCa>gAa	p.A427E	GPR112_ENST00000394141.1_Missense_Mutation_p.A222E|GPR112_ENST00000287534.4_Missense_Mutation_p.A364E|GPR112_ENST00000412101.1_Missense_Mutation_p.A222E|GPR112_ENST00000370652.1_Missense_Mutation_p.A427E	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	427					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AATACTGGGGCACTCCCTATC	0.433																																					p.A427E		.											.	GPR112-183	0			c.C1280A						.						86.0	80.0	82.0					X																	135427145		2203	4300	6503	SO:0001583	missense	139378	exon6			CTGGGGCACTCCC	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1280C>A	X.37:g.135427145C>A	ENSP00000377699:p.Ala427Glu	389	4		486	23	NM_153834	0	0	0	0	0	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	9.865	1.197366	0.22037	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.32753	1.48;1.48;1.44;1.58;1.44	3.78	1.92	0.25849	.	.	.	.	.	T	0.22437	0.0541	N	0.24115	0.695	0.09310	N	1	D;P;P	0.58268	0.982;0.879;0.808	P;B;B	0.49361	0.608;0.404;0.228	T	0.10359	-1.0633	9	0.15952	T	0.53	.	6.1182	0.20137	0.0:0.7463:0.0:0.2537	.	364;222;427	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	E	427;427;222;364;222	ENSP00000377699:A427E;ENSP00000359686:A427E;ENSP00000416526:A222E;ENSP00000287534:A364E;ENSP00000377697:A222E	ENSP00000287534:A364E	A	+	2	0	GPR112	135254811	0.000000	0.05858	0.015000	0.15790	0.020000	0.10135	-0.149000	0.10204	0.204000	0.20548	0.411000	0.27672	GCA	.		0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
GABRQ	55879	bcgsc.ca	37	X	151821117	151821117	+	Silent	SNP	C	C	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:151821117C>A	ENST00000370306.2	+	9	1292	c.1272C>A	c.(1270-1272)gcC>gcA	p.A424A		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	424					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCGAGCAGGCCCAGCTGGCCA	0.657																																					p.A424A		.											.	GABRQ-133	0			c.C1272A						.						58.0	58.0	58.0					X																	151821117		2203	4300	6503	SO:0001819	synonymous_variant	55879	exon9			GCAGGCCCAGCTG	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1272C>A	X.37:g.151821117C>A		313	4		470	57	NM_018558	0	0	0	0	0	A6NFN1|Q32MB4|Q9NZK8	Silent	SNP	ENST00000370306.2	37	CCDS14707.1																																																																																			.		0.657	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558	
PNMA3	29944	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	152226031	152226031	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:152226031G>A	ENST00000370264.4	+	1	645	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	PNMA3_ENST00000370265.4_Missense_Mutation_p.E207K|PNMA3_ENST00000447306.1_Missense_Mutation_p.E207K			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	207					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gaggctgatggaatgcttacg	0.607																																					p.E207K		.											.	PNMA3-600	0			c.G619A						.						69.0	67.0	68.0					X																	152226031		2203	4300	6503	SO:0001583	missense	29944	exon2			CTGATGGAATGCT	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.619G>A	X.37:g.152226031G>A	ENSP00000359286:p.Glu207Lys	64	1		102	12	NM_013364	0	0	5	5	0	D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	g	15.09	2.729986	0.48939	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.12879	2.64;2.64;2.64	1.98	1.98	0.26296	.	.	.	.	.	T	0.19846	0.0477	N	0.25957	0.775	0.09310	N	1	D	0.76494	0.999	D	0.73380	0.98	T	0.09314	-1.0680	9	0.45353	T	0.12	.	6.8643	0.24084	0.0:0.0:1.0:0.0	.	207	Q9UL41	PNMA3_HUMAN	K	207	ENSP00000359288:E207K;ENSP00000407642:E207K;ENSP00000359286:E207K	ENSP00000359286:E207K	E	+	1	0	PNMA3	151976687	0.986000	0.35501	0.023000	0.16930	0.009000	0.06853	2.435000	0.44811	1.297000	0.44761	0.464000	0.42555	GAA	.		0.607	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364	
ATP2B3	492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	152827696	152827696	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:152827696G>T	ENST00000349466.2	+	19	3481	c.3155G>T	c.(3154-3156)gGa>gTa	p.G1052V	ATP2B3_ENST00000393842.1_Missense_Mutation_p.G1038V|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G1052V|ATP2B3_ENST00000370181.2_Missense_Mutation_p.G1038V|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G1052V|ATP2B3_ENST00000370186.1_Missense_Mutation_p.G1038V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1052					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGTCTGGGGACAGGTGAGT	0.597																																					p.G1052V		.											.	ATP2B3-109	0			c.G3155T						.						125.0	97.0	106.0					X																	152827696		2203	4300	6503	SO:0001583	missense	492	exon18			TCTGGGGACAGGT	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.3155G>T	X.37:g.152827696G>T	ENSP00000343886:p.Gly1052Val	79	0		124	32	NM_001001344	0	0	0	0	0	B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416137	0.83449	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.95554	-3.74;-3.74;-3.74;-3.74;-3.74;-3.74	4.91	4.91	0.64330	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	H	0.95712	3.71	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.996	D;D;D	0.97110	1.0;0.968;0.96	D	0.99823	1.1048	10	0.87932	D	0	-12.4981	16.1073	0.81234	0.0:0.0:1.0:0.0	.	1038;1052;1052	Q16720-3;Q16720;Q16720-2	.;AT2B3_HUMAN;.	V	1038;1052;1038;1052;1052;1038	ENSP00000359205:G1038V;ENSP00000343886:G1052V;ENSP00000377425:G1038V;ENSP00000352062:G1052V;ENSP00000263519:G1052V;ENSP00000359200:G1038V	ENSP00000263519:G1052V	G	+	2	0	ATP2B3	152480890	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.807000	0.99171	2.053000	0.61076	0.529000	0.55759	GGA	.		0.597	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949	
PLXNB3	5365	bcgsc.ca	37	X	153042778	153042778	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:153042778G>T	ENST00000361971.5	+	30	5157	c.5043G>T	c.(5041-5043)gaG>gaT	p.E1681D	PLXNB3_ENST00000538776.1_Missense_Mutation_p.E1334D|SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000485980.1_3'UTR|PLXNB3_ENST00000538966.1_Missense_Mutation_p.E1704D	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1681					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)					GGGAGCGCGAGCCAGCAAGGG	0.672																																					p.E1704D		.											.	PLXNB3-130	0			c.G5112T						.						54.0	34.0	41.0					X																	153042778		2199	4297	6496	SO:0001583	missense	5365	exon31			GCGCGAGCCAGCA	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.5043G>T	X.37:g.153042778G>T	ENSP00000355378:p.Glu1681Asp	186	2		369	27	NM_001163257	0	0	1	1	0	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185289	0.38609	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776	T;T;T	0.01767	5.28;5.24;4.65	5.1	-6.44	0.01920	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.050012	0.85682	D	0.000000	T	0.03011	0.0089	N	0.25647	0.755	0.45762	D	0.998656	D;P;D	0.89917	1.0;0.846;1.0	D;P;D	0.91635	0.999;0.561;0.999	T	0.03662	-1.1015	10	0.26408	T	0.33	.	11.2473	0.49004	0.6794:0.096:0.2246:0.0	.	1334;1704;1681	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	D	1704;1681;1334	ENSP00000442736:E1704D;ENSP00000355378:E1681D;ENSP00000445569:E1334D	ENSP00000355378:E1681D	E	+	3	2	PLXNB3	152695972	0.998000	0.40836	0.000000	0.03702	0.009000	0.06853	0.512000	0.22755	-1.809000	0.01232	0.529000	0.55759	GAG	.		0.672	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1		
ARHGAP4	393	bcgsc.ca	37	X	153184648	153184648	+	Silent	SNP	G	G	T			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:153184648G>T	ENST00000350060.5	-	6	812	c.771C>A	c.(769-771)gtC>gtA	p.V257V	ARHGAP4_ENST00000370028.3_Silent_p.V297V|ARHGAP4_ENST00000370016.1_Silent_p.V236V|ARHGAP4_ENST00000537206.1_Silent_p.V234V|ARHGAP4_ENST00000393721.1_Intron	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	257					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTAGTTACTGACAGCAGCGT	0.572																																					p.V297V		.											.	ARHGAP4-227	0			c.C891A						.						220.0	141.0	168.0					X																	153184648		2203	4300	6503	SO:0001819	synonymous_variant	393	exon7			GTTACTGACAGCA	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.771C>A	X.37:g.153184648G>T		188	2		298	16	NM_001164741	0	0	0	0	0	Q14144|Q86UY3	Silent	SNP	ENST00000350060.5	37	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	G	9.011	0.982464	0.18889	.	.	ENSG00000089820	ENST00000418750	.	.	.	4.44	3.58	0.41010	.	.	.	.	.	T	0.57489	0.2057	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52253	-0.8600	4	.	.	.	.	7.6652	0.28426	0.2086:0.0:0.7914:0.0	.	.	.	.	K	145	.	.	Q	-	1	0	ARHGAP4	152837842	1.000000	0.71417	0.960000	0.40013	0.927000	0.56198	2.497000	0.45354	0.800000	0.34041	0.479000	0.44913	CAG	.		0.572	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666	
KRTAP4-3	85290	bcgsc.ca	37	17	39324229	39324230	+	In_Frame_Ins	INS	-	-	GCAGCAGGTGGTCAG	rs58564583|rs369617852	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:39324229_39324230insGCAGCAGGTGGTCAG	ENST00000391356.2	-	1	194_195	c.195_196insCTGACCACCTGCTGC	c.(193-198)tgcagg>tgcCTGACCACCTGCTGCagg	p.64_65insCLTTC		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	64	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].		C -> CCCLTTCCRTTCCRPSCCISSCCRPSCCISSCCKPS (in allele KAP3-v1).		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			caggtggtcctgcagcagctgg	0.629																																					p.R66delinsLTTCCR		.											.	KRTAP4-3-22	0			c.196_197insCTGACCACCTGCTGC						.			169,589,1746		24,2,119,170,247,690						-9.3	0.0		dbSNP_134	4	951,38,4927		39,1,872,6,25,2015	no	codingComplex	KRTAP4-3	NM_033187.1		63,3,991,176,272,2705	A1A1,A1A2,A1R,A2A2,A2R,RR		16.7174,30.2716,20.7482				1120,627,6673				SO:0001652	inframe_insertion	85290	exon1			TGGTCCTGCAGCA	AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"""Keratin associated proteins"""	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.195_196insCTGACCACCTGCTGC	17.37:g.39324229_39324230insGCAGCAGGTGGTCAG	ENSP00000375151:p.Cys64_Cys65insCysLeuThrThrCys	205	0		264	25	NM_033187	0	0	0	0	0		In_Frame_Ins	INS	ENST00000391356.2	37	CCDS42331.1																																																																																			.		0.629	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1		
LIPE	3991	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	42907077	42907078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:42907077_42907078insC	ENST00000244289.4	-	9	2924_2925	c.2648_2649insG	c.(2647-2649)ggafs	p.G883fs	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	883					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCTCGGAGTTTCCCCTCAGGCT	0.609																																					p.G883fs		.											.	LIPE-154	0			c.2649_2650insG						.																																			SO:0001589	frameshift_variant	3991	exon9			GGAGTTTCCCCTC	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2649dupG	19.37:g.42907081_42907081dupC	ENSP00000244289:p.Gly883fs	29	0		39	20	NM_005357	0	0	0	0	0	Q3LRT2|Q6NSL7	Frame_Shift_Ins	INS	ENST00000244289.4	37	CCDS12607.1																																																																																			.		0.609	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357	
PODXL	5420	hgsc.bcm.edu	37	7	131241029	131241030	+	In_Frame_Ins	INS	-	-	GGCGAC	rs11277659|rs547816245|rs532078953|rs79759078|rs571821675	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:131241029_131241030insGGCGAC	ENST00000378555.3	-	1	336_337	c.89_90insGTCGCC	c.(88-90)ccc>ccGTCGCCc	p.30_30P>PSP	PODXL_ENST00000465001.1_Intron|PODXL_ENST00000541194.1_In_Frame_Ins_p.30_30P>PSP|PODXL_ENST00000537928.1_In_Frame_Ins_p.30_30P>PSP|PODXL_ENST00000322985.9_In_Frame_Ins_p.30_30P>PSP			O00592	PODXL_HUMAN	podocalyxin-like	30					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTGGGAGggcgacggcga	0.752																																					p.P30delinsPSP		.											.	PODXL-136	2	Deletion - In frame(2)	prostate(2)	c.90_91insGTCGCC						.																																			SO:0001652	inframe_insertion	5420	exon1			CTGGGAGGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89dupGTCGCC	7.37:g.131241030_131241035dupGGCGAC	ENSP00000367817:p.SerPro30dup	2	0		37	0	NM_005397	0	0	0	0	0	A6NHX8|Q52LZ7|Q53ER6	In_Frame_Ins	INS	ENST00000378555.3	37	CCDS34755.1																																																																																			.		0.752	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111	
