#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
RERE	473	hgsc.bcm.edu	37	1	8421186	8421186	+	Missense_Mutation	SNP	G	G	A	rs201922249	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:8421186G>A	ENST00000337907.3	-	19	3015	c.2381C>T	c.(2380-2382)cCt>cTt	p.P794L	RERE_ENST00000400908.2_Missense_Mutation_p.P794L|RERE_ENST00000377464.1_Missense_Mutation_p.P526L|RERE_ENST00000476556.1_Missense_Mutation_p.P240L|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	794	Pro-rich.				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)		GTGGGGAACAGGCGCTGTGGG	0.731													G|||	25	0.00499201	0.0	0.0101	5008	,	,		12737	0.0		0.0159	False		,,,				2504	0.002				p.P794L		.											.	RERE-515	0			c.C2381T						.	G	LEU/PRO,LEU/PRO,LEU/PRO	16,4116		0,16,2050	8.0	9.0	9.0		2381,719,2381	4.2	0.0	1		9	135,8059		1,133,3963	yes	missense,missense,missense	RERE	NM_012102.3,NM_001042682.1,NM_001042681.1	98,98,98	1,149,6013	AA,AG,GG		1.6475,0.3872,1.2251	benign,benign,benign	794/1567,240/1013,794/1567	8421186	151,12175	2066	4097	6163	SO:0001583	missense	473	exon19			GGAACAGGCGCTG	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.2381C>T	1.37:g.8421186G>A	ENSP00000338629:p.Pro794Leu	0	0		6	5	NM_012102	0	0	0	2	2	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	CCDS95.1	14	0.00641025641025641	0	0.0	5	0.013812154696132596	0	0.0	9	0.011873350923482849	G	20.8	4.057756	0.76074	0.003872	0.016475	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.46063	0.88;0.89;0.88	5.15	4.24	0.50183	.	.	.	.	.	T	0.22513	0.0543	L	0.44542	1.39	0.37189	D	0.903842	B;B	0.27910	0.193;0.005	B;B	0.31390	0.129;0.038	T	0.35599	-0.9782	9	0.54805	T	0.06	-2.2502	12.4483	0.55664	0.0824:0.0:0.9176:0.0	.	526;794	B1AKN3;Q9P2R6	.;RERE_HUMAN	L	794;526;240;794	ENSP00000338629:P794L;ENSP00000366684:P526L;ENSP00000383700:P794L	ENSP00000338629:P794L	P	-	2	0	RERE	8343773	0.692000	0.27719	0.002000	0.10522	0.010000	0.07245	4.289000	0.59013	1.299000	0.44798	0.561000	0.74099	CCT	G|0.994;A|0.006		0.731	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1		
UBR4	23352	bcgsc.ca	37	1	19413261	19413261	+	Missense_Mutation	SNP	T	T	A	rs12584	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:19413261T>A	ENST00000375254.3	-	100	14626	c.14599A>T	c.(14599-14601)Atg>Ttg	p.M4867L	UBR4_ENST00000375217.2_Missense_Mutation_p.M4860L|UBR4_ENST00000375267.2_Missense_Mutation_p.M4867L|UBR4_ENST00000375226.2_Missense_Mutation_p.M4843L|UBR4_ENST00000375224.1_Missense_Mutation_p.M574L|UBR4_ENST00000543981.1_Missense_Mutation_p.M531L|UBR4_ENST00000429347.2_Missense_Mutation_p.M390L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4867			M -> L (in dbSNP:rs12584). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16247014, ECO:0000269|Ref.10}.		protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTATTCTCCATCTCCTCCAAG	0.557													T|||	3012	0.601438	0.5408	0.6844	5008	,	,		19614	0.7589		0.5785	False		,,,				2504	0.4857				p.M4867L		.											.	UBR4-612	0			c.A14599T						.	T	LEU/MET	2416,1990	616.8+/-392.8	670,1076,457	122.0	117.0	119.0		14599	0.9	1.0	1	dbSNP_52	119	4866,3734	618.1+/-396.7	1393,2080,827	yes	missense	UBR4	NM_020765.2	15	2063,3156,1284	AA,AT,TT		43.4186,45.1657,44.0105	benign	4867/5184	19413261	7282,5724	2203	4300	6503	SO:0001583	missense	23352	exon100			TCTCCATCTCCTC	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.14599A>T	1.37:g.19413261T>A	ENSP00000364403:p.Met4867Leu	306	1		239	7	NM_020765	0	0	30	30	0	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	1399	0.6405677655677655	284	0.5772357723577236	238	0.6574585635359116	447	0.7814685314685315	430	0.5672823218997362	T	13.03	2.115935	0.37339	0.548343	0.565814	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.6	0.893	0.19236	.	0.240188	0.43919	N	0.000508	T	0.00012	0.0000	N	0.01874	-0.695	0.34946	P	0.24924100000000005	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.16394	-1.0404	9	0.21540	T	0.41	.	5.2676	0.15607	0.0927:0.081:0.534:0.2923	rs12584;rs1043902;rs3183581;rs17846644;rs17859739;rs52808263;rs12584	531;390;4867;4843	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	L	4867;4867;4860;4843;574;390;531	ENSP00000364403:M4867L;ENSP00000364416:M4867L;ENSP00000364365:M4860L;ENSP00000364374:M4843L;ENSP00000364372:M574L;ENSP00000394173:M390L;ENSP00000444070:M531L	ENSP00000364365:M4860L	M	-	1	0	UBR4	19285848	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	2.616000	0.46376	-0.151000	0.11176	0.460000	0.39030	ATG	T|0.490;A|0.510		0.557	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
TIE1	7075	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	43775126	43775126	+	Missense_Mutation	SNP	C	C	T	rs140823224	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:43775126C>T	ENST00000372476.3	+	9	1335	c.1256C>T	c.(1255-1257)gCg>gTg	p.A419V	TIE1_ENST00000433781.2_Missense_Mutation_p.A64V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	419	Ig-like C2-type 2.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTGGTTCTTGCGGACAGTGGG	0.577																																					p.A419V		.											.	TIE1-1404	0			c.C1256T						.	C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	136.0	119.0	125.0		1256	-0.6	1.0	1	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TIE1	NM_005424.2	64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	419/1139	43775126	2,13004	2203	4300	6503	SO:0001583	missense	7075	exon9			TTCTTGCGGACAG	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1256C>T	1.37:g.43775126C>T	ENSP00000361554:p.Ala419Val	262	0		217	11	NM_005424	0	0	9	9	0	B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769717	0.31320	2.27E-4	1.16E-4	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.43688	2.65;0.94	4.87	-0.618	0.11576	Immunoglobulin-like fold (1);	0.826984	0.10159	N	0.708507	T	0.23649	0.0572	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.20780	0.031;0.038;0.005;0.018;0.048	B;B;B;B;B	0.21360	0.008;0.025;0.001;0.003;0.034	T	0.21109	-1.0255	10	0.33940	T	0.23	.	3.5038	0.07683	0.1845:0.4684:0.2417:0.1054	.	64;374;419;64;419	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	V	419;64	ENSP00000361554:A419V;ENSP00000411728:A64V	ENSP00000361554:A419V	A	+	2	0	TIE1	43547713	0.000000	0.05858	0.983000	0.44433	0.601000	0.36947	0.403000	0.20982	0.137000	0.18759	-1.177000	0.01723	GCG	C|1.000;T|0.000		0.577	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424	
MAGI3	260425	bcgsc.ca	37	1	114196495	114196495	+	Silent	SNP	A	A	G	rs2359173	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:114196495A>G	ENST00000307546.9	+	15	2559	c.2484A>G	c.(2482-2484)acA>acG	p.T828T	MAGI3_ENST00000369617.4_Silent_p.T853T|MAGI3_ENST00000369611.4_Silent_p.T828T|MAGI3_ENST00000369615.1_Silent_p.T828T	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	853	Interaction with BAI1.|PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)		TCATTTCAACACAGAATGGAT	0.473													A|||	973	0.194289	0.0098	0.2032	5008	,	,		2608	0.0933		0.327	False		,,,				2504	0.4049				p.T828T		.											.	MAGI3-524	0			c.A2484G						.	A	,	299,4107	162.5+/-194.5	12,275,1916	137.0	151.0	146.0		2484,2484	-4.9	0.2	1	dbSNP_100	146	2612,5988	423.1+/-354.3	400,1812,2088	no	coding-synonymous,coding-synonymous	MAGI3	NM_001142782.1,NM_152900.2	,	412,2087,4004	GG,GA,AA		30.3721,6.7862,22.382	,	828/1482,828/1126	114196495	2911,10095	2203	4300	6503	SO:0001819	synonymous_variant	260425	exon15			TTCAACACAGAAT	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.2484A>G	1.37:g.114196495A>G		88	0		94	5	NM_152900	0	0	3	3	0	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	CCDS44196.1																																																																																			A|0.803;G|0.197		0.473	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900	
ATP1A1	476	broad.mit.edu	37	1	116948712	116948712	+	IGR	SNP	G	G	A	rs850610	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:116948712G>A	ENST00000295598.5	+	0	3654				ATP1A1OS_ENST00000369491.1_RNA|ATP1A1OS_ENST00000369492.4_RNA	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide						ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	GTCTACTTTCGGCATCCCTGG	0.527													G|||	2094	0.418131	0.056	0.5101	5008	,	,		21585	0.2669		0.663	False		,,,				2504	0.7464				.		.											.	.	0			.						.																																			SO:0001628	intergenic_variant	84852	.			ACTTTCGGCATCC	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109		1.37:g.116948712G>A		87	1		78	4	.	0	0	7	7	0	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	RNA	SNP	ENST00000295598.5	37	CCDS887.1																																																																																			A|0.382;C|0.006;G|0.610;T|0.002		0.527	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233	
FLG	2312	bcgsc.ca	37	1	152281690	152281690	+	Missense_Mutation	SNP	C	C	T	rs12407748	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:152281690C>T	ENST00000368799.1	-	3	5707	c.5672G>A	c.(5671-5673)cGg>cAg	p.R1891Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1891	Ser-rich.		R -> Q (in dbSNP:rs12407748).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTCGGCCCGAGAGGAAGC	0.567									Ichthyosis				C|||	1440	0.28754	0.0113	0.3905	5008	,	,		19138	0.5843		0.1421	False		,,,				2504	0.4315				p.R1891Q		.											.	FLG-106	0			c.G5672A						.	C	GLN/ARG	162,4244	108.6+/-147.0	2,158,2043	272.0	275.0	274.0		5672	-3.6	0.0	1	dbSNP_120	274	1242,7358	249.3+/-276.6	97,1048,3155	no	missense	FLG	NM_002016.1	43	99,1206,5198	TT,TC,CC		14.4419,3.6768,10.795	possibly-damaging	1891/4062	152281690	1404,11602	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TCGGCCCGAGAGG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5672G>A	1.37:g.152281690C>T	ENSP00000357789:p.Arg1891Gln	263	2		218	6	NM_002016	0	0	0	0	0	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	549	0.25137362637362637	9	0.018292682926829267	114	0.3149171270718232	316	0.5524475524475524	110	0.14511873350923482	C	4.339	0.062313	0.08388	0.036768	0.144419	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.03358	3.96	1.78	-3.57	0.04612	.	.	.	.	.	T	0.00524	0.0017	N	0.13235	0.315	0.80722	P	0.0	P	0.39250	0.665	B	0.33890	0.172	T	0.39272	-0.9622	8	0.08599	T	0.76	.	7.8311	0.29342	0.0:0.7145:0.0:0.2855	rs12407748;rs35359555;rs12407748	1891	P20930	FILA_HUMAN	Q	1891;126	ENSP00000357789:R1891Q	ENSP00000271820:R126Q	R	-	2	0	FLG	150548314	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.006000	0.00315	-1.013000	0.03383	-1.309000	0.01313	CGG	C|0.851;T|0.149		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
GBAP1	2630	bcgsc.ca	37	1	155186742	155186742	+	RNA	SNP	G	G	A	rs1057941	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:155186742G>A	ENST00000486869.1	-	0	561					NR_002188.2				glucosidase, beta, acid pseudogene 1																		GTCTTGAGCCGAGTGGGTGAT	0.577													G|||	2225	0.444289	0.1725	0.5994	5008	,	,		14941	0.7411		0.3917	False		,,,				2504	0.4499				.		.											.	.	0			.						.																																					2630	.			TGAGCCGAGTGGG	J03060		1q22	2012-11-19	2010-01-19	2010-01-19	ENSG00000160766	ENSG00000160766			4178	pseudogene	pseudogene			"""glucosidase, beta; acid, pseudogene"""	GBAP			Standard	NR_002188		Approved		uc001fjd.3		OTTHUMG00000176393		1.37:g.155186742G>A		185	3		115	8	.	0	0	1	1	0		RNA	SNP	ENST00000486869.1	37		1053	0.48214285714285715	81	0.16463414634146342	193	0.5331491712707183	457	0.798951048951049	322	0.42480211081794195	.	0.025	-1.376427	0.01214	.	.	ENSG00000160766	ENST00000368374;ENST00000313929	.	.	.	3.5	1.04	0.20106	.	0.082357	0.52532	N	0.000067	T	0.04318	0.0119	.	.	.	0.23845	P	0.99669	B;B;B	0.14805	0.0;0.011;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.37361	-0.9709	7	0.02654	T	1	.	4.6909	0.12780	0.722:0.0:0.1081:0.17	rs1057941;rs3198513	101;62;140	C4AM82;B3KQW3;B4DHT6	.;.;.	W	101	.	ENSP00000316400:R101W	R	-	1	2	GBAP1	153453366	1.000000	0.71417	0.997000	0.53966	0.087000	0.18053	3.765000	0.55272	-0.197000	0.10350	-3.574000	0.00029	CGG	G|0.551;A|0.449		0.577	GBAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000087219.2	NR_002188.2	
CFAP45	25790	bcgsc.ca	37	1	159854251	159854251	+	Missense_Mutation	SNP	T	T	C	rs16842789	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:159854251T>C	ENST00000368099.4	-	7	936	c.872A>G	c.(871-873)gAa>gGa	p.E291G	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_Missense_Mutation_p.E206G	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTGGAGCTGTTCCATATATTC	0.517													T|||	523	0.104433	0.2284	0.0591	5008	,	,		19923	0.0556		0.0666	False		,,,				2504	0.0583				p.E291G		.											.	CCDC19-91	0			c.A872G						.	T	GLY/GLU	863,3543	337.6+/-304.9	95,673,1435	276.0	247.0	257.0		872	5.1	0.3	1	dbSNP_123	257	606,7994	159.8+/-213.0	19,568,3713	yes	missense	CCDC19	NM_012337.2	98	114,1241,5148	CC,CT,TT		7.0465,19.5869,11.2948	benign	291/552	159854251	1469,11537	2203	4300	6503	SO:0001583	missense	25790	exon7			AGCTGTTCCATAT																												ENST00000368099.4:c.872A>G	1.37:g.159854251T>C	ENSP00000357079:p.Glu291Gly	84	0		52	4	NM_012337	0	0	0	0	0		Missense_Mutation	SNP	ENST00000368099.4	37	CCDS30914.1	245	0.11217948717948718	119	0.241869918699187	23	0.06353591160220995	52	0.09090909090909091	51	0.06728232189973615	T	15.69	2.906712	0.52333	0.195869	0.070465	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.11930	2.73;2.73	5.09	5.09	0.68999	.	0.414475	0.28077	N	0.016700	T	0.17066	0.0410	M	0.74647	2.275	0.24783	P	0.99280221	P;P	0.47253	0.892;0.892	P;P	0.51055	0.657;0.657	T	0.02444	-1.1158	8	.	.	.	-8.2485	13.1081	0.59259	0.0:0.0:0.0:1.0	rs16842789;rs52832557;rs59557612;rs16842789	291;291	A8K884;Q9UL16	.;CCD19_HUMAN	G	291;206	ENSP00000357079:E291G;ENSP00000403044:E206G	.	E	-	2	0	CCDC19	158120875	1.000000	0.71417	0.313000	0.25210	0.151000	0.21798	6.500000	0.73687	2.032000	0.59987	0.533000	0.62120	GAA	T|0.884;C|0.116		0.517	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1		
TMCO1	54499	broad.mit.edu	37	1	165712446	165712446	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:165712446delG	ENST00000392129.6	-	6	576	c.426delC	c.(424-426)tccfs	p.S142fs	TMCO1_ENST00000367881.5_Frame_Shift_Del_p.S193fs|TMCO1_ENST00000464650.1_Frame_Shift_Del_p.S58fs|TMCO1_ENST00000580248.1_Frame_Shift_Del_p.S58fs	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	142						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					GGAAAATGAAGGAACAGTCTG	0.403																																					p.S193fs		.											.	TMCO1-68	0			c.579delC						.						96.0	94.0	95.0					1																	165712446		2203	4300	6503	SO:0001589	frameshift_variant	54499	exon6			AATGAAGGAACAG	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.426delC	1.37:g.165712446delG	ENSP00000375975:p.Ser142fs	356	0		343	13	NM_019026	0	0	0	0	0	B2REA0|O75545|Q9BZS3|Q9BZU8	Frame_Shift_Del	DEL	ENST00000392129.6	37																																																																																				.		0.403	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026	
CAPN9	10753	bcgsc.ca	37	1	230923313	230923313	+	Missense_Mutation	SNP	C	C	T	rs12731961	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:230923313C>T	ENST00000271971.2	+	13	1677	c.1564C>T	c.(1564-1566)Cgg>Tgg	p.R522W	CAPN9_ENST00000366666.2_Missense_Mutation_p.R459W|CAPN9_ENST00000354537.1_Missense_Mutation_p.R496W|RP11-99J16__A.2_ENST00000452640.1_RNA|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	522	Domain IV.|EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.		R -> W (in dbSNP:rs12731961). {ECO:0000269|Ref.3}.		digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGAGGAGCAGCGGTTTCGGGC	0.522													C|||	982	0.196086	0.3207	0.1542	5008	,	,		19755	0.0813		0.1819	False		,,,				2504	0.1902				p.R522W		.											.	CAPN9-91	0			c.C1564T						.	C	TRP/ARG,TRP/ARG	1255,3151	430.1+/-342.5	191,873,1139	118.0	99.0	105.0		1564,1486	3.2	0.4	1	dbSNP_121	105	1661,6939	306.2+/-307.8	158,1345,2797	yes	missense,missense	CAPN9	NM_006615.2,NM_016452.1	101,101	349,2218,3936	TT,TC,CC		19.314,28.4839,22.4204	possibly-damaging,possibly-damaging	522/691,496/665	230923313	2916,10090	2203	4300	6503	SO:0001583	missense	10753	exon13			GAGCAGCGGTTTC	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.1564C>T	1.37:g.230923313C>T	ENSP00000271971:p.Arg522Trp	88	1		76	5	NM_006615	0	0	0	0	0	B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	CCDS1586.1	381	0.17445054945054944	150	0.3048780487804878	56	0.15469613259668508	35	0.06118881118881119	140	0.18469656992084432	C	8.961	0.970662	0.18659	0.284839	0.19314	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.95103	-3.61;-3.61;-3.61	5.17	3.18	0.36537	EF-hand-like domain (1);	0.641175	0.17553	N	0.170097	T	0.00039	0.0001	L	0.34521	1.04	0.80722	P	0.0	P;P;P	0.52061	0.917;0.95;0.917	B;P;B	0.45138	0.28;0.471;0.28	T	0.00000	-1.3148	9	0.72032	D	0.01	.	12.7937	0.57549	0.0:0.6867:0.3133:0.0	rs12731961;rs52797755;rs56556331;rs58840974;rs12731961	459;496;522	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	W	522;496;459	ENSP00000271971:R522W;ENSP00000346538:R496W;ENSP00000355626:R459W	ENSP00000271971:R522W	R	+	1	2	CAPN9	228989936	0.185000	0.23213	0.373000	0.26003	0.052000	0.14988	0.780000	0.26760	1.128000	0.42052	0.655000	0.94253	CGG	C|0.793;T|0.207		0.522	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615	
TTC13	79573	bcgsc.ca	37	1	231042732	231042732	+	Silent	SNP	T	T	A	rs3811502	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:231042732T>A	ENST00000366661.4	-	23	2509	c.2502A>T	c.(2500-2502)gtA>gtT	p.V834V	TTC13_ENST00000366662.4_Silent_p.V780V|TTC13_ENST00000414259.1_Silent_p.V781V	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	834										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ACGTTTCTGATACTGATGGAA	0.358													T|||	2582	0.515575	0.4198	0.6556	5008	,	,		15841	0.5446		0.5338	False		,,,				2504	0.4969				p.V834V		.											.	TTC13-92	0			c.A2502T						.	T	,	1789,2617	528.6+/-372.4	353,1083,767	82.0	80.0	81.0		2340,2502	-2.0	0.9	1	dbSNP_107	81	4480,4120	589.4+/-392.5	1167,2146,987	no	coding-synonymous,coding-synonymous	TTC13	NM_001122835.2,NM_024525.4	,	1520,3229,1754	AA,AT,TT		47.907,40.6037,48.2008	,	780/807,834/861	231042732	6269,6737	2203	4300	6503	SO:0001819	synonymous_variant	79573	exon23			TTCTGATACTGAT		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.2502A>T	1.37:g.231042732T>A		236	0		185	10	NM_024525	0	0	6	6	0	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Silent	SNP	ENST00000366661.4	37	CCDS1588.1																																																																																			T|0.505;A|0.495		0.358	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525	
LGALS8	3964	bcgsc.ca	37	1	236702374	236702374	+	Silent	SNP	G	G	A	rs2472126	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:236702374G>A	ENST00000366584.4	+	4	896	c.330G>A	c.(328-330)ctG>ctA	p.L110L	RP11-385F5.5_ENST00000608547.1_RNA|LGALS8_ENST00000526634.1_Silent_p.L110L|LGALS8_ENST00000323938.6_Silent_p.L83L|LGALS8_ENST00000527974.1_Silent_p.L110L|LGALS8_ENST00000525042.1_Silent_p.L110L|LGALS8_ENST00000352231.2_Silent_p.L110L|LGALS8_ENST00000341872.6_Silent_p.L110L|LGALS8_ENST00000526589.1_Silent_p.L110L|LGALS8_ENST00000450372.2_Silent_p.L110L|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000416919.2_Silent_p.L110L	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	110	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTATGGTGCTGAAGGACAAAT	0.443													C|||	2170	0.433307	0.2738	0.464	5008	,	,		19869	0.4752		0.6173	False		,,,				2504	0.3947				p.L110L		.											.	LGALS8-91	0			c.G330A						.	C	,,,	1812,2594		309,1194,700	78.0	76.0	76.0		330,330,330,330	1.1	1.0	1	dbSNP_100	76	5551,3049		1747,2057,496	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LGALS8	NM_006499.4,NM_201543.2,NM_201544.2,NM_201545.2	,,,	2056,3251,1196	AA,AG,GG		35.4535,41.1257,43.3877	,,,	110/360,110/318,110/318,110/360	236702374	7363,5643	2203	4300	6503	SO:0001819	synonymous_variant	3964	exon5			GGTGCTGAAGGAC	X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"""Lectins, galactoside-binding"""	6569	protein-coding gene	gene with protein product	"""galectin 8"""	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.330G>A	1.37:g.236702374G>A		252	3		193	8	NM_006499	0	0	11	11	0	O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Silent	SNP	ENST00000366584.4	37	CCDS1612.1																																																																																			A|0.527;C|0.006;G|0.466		0.443	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499	
DLG5	9231	bcgsc.ca	37	10	79566632	79566632	+	Silent	SNP	G	G	A	rs1058198	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr10:79566632G>A	ENST00000372391.2	-	26	4856	c.4851C>T	c.(4849-4851)gaC>gaT	p.D1617D	DLG5_ENST00000372388.2_Silent_p.D1277D|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1617	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGAGGATGTCGTCCTTCTTAA	0.602													G|||	1315	0.26258	0.2466	0.2392	5008	,	,		16932	0.1736		0.339	False		,,,				2504	0.3139				p.D1617D		.											.	DLG5-98	0			c.C4851T						.	G		1180,3226	415.4+/-337.2	169,842,1192	157.0	134.0	142.0		4851	-11.7	0.1	10	dbSNP_86	142	2978,5622	462.9+/-365.8	536,1906,1858	no	coding-synonymous	DLG5	NM_004747.3		705,2748,3050	AA,AG,GG		34.6279,26.7817,31.9699		1617/1920	79566632	4158,8848	2203	4300	6503	SO:0001819	synonymous_variant	9231	exon26			GATGTCGTCCTTC	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4851C>T	10.37:g.79566632G>A		191	1		130	8	NM_004747	0	0	20	20	0	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	CCDS7353.2																																																																																			G|0.688;A|0.312		0.602	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2		
C10orf95	79946	hgsc.bcm.edu	37	10	104210735	104210735	+	Missense_Mutation	SNP	C	C	A	rs2281878	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr10:104210735C>A	ENST00000239125.1	-	2	327	c.253G>T	c.(253-255)Gct>Tct	p.A85S	RP11-18I14.10_ENST00000596366.1_RNA|RP11-18I14.10_ENST00000492465.2_RNA|RP11-18I14.10_ENST00000473970.2_RNA|RP11-18I14.10_ENST00000594818.1_RNA|RP11-18I14.10_ENST00000494270.2_RNA|RP11-18I14.10_ENST00000596045.1_RNA	NM_024886.1	NP_079162.1	Q9H7T3	CJ095_HUMAN	chromosome 10 open reading frame 95	85	Arg/Pro-rich.									liver(1)	1		Colorectal(252;0.207)		Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213)		GCTGCGGAAGCTGTGGGCCTG	0.766													C|||	1422	0.283946	0.2481	0.2147	5008	,	,		8527	0.3661		0.2107	False		,,,				2504	0.3722				p.A85S		.											.	C10orf95-91	0			c.G253T						.	C	SER/ALA	686,2688		69,548,1070	4.0	6.0	5.0		253	0.9	1.0	10	dbSNP_100	5	1301,5815		124,1053,2381	yes	missense	C10orf95	NM_024886.1	99	193,1601,3451	AA,AC,CC		18.2827,20.332,18.9418	possibly-damaging	85/258	104210735	1987,8503	1687	3558	5245	SO:0001583	missense	79946	exon2			CGGAAGCTGTGGG	AK024342	CCDS7534.1	10q24.32	2014-02-19	2014-02-19	2014-02-19	ENSG00000120055	ENSG00000120055			25880	protein-coding gene	gene with protein product							Standard	NM_024886		Approved	FLJ14280	uc001kvo.1	Q9H7T3	OTTHUMG00000018959	ENST00000239125.1:c.253G>T	10.37:g.104210735C>A	ENSP00000239125:p.Ala85Ser	0	0		7	6	NM_024886	0	0	0	0	0	A0AVQ7	Missense_Mutation	SNP	ENST00000239125.1	37	CCDS7534.1	525	0.2403846153846154	101	0.20528455284552846	71	0.19613259668508287	200	0.34965034965034963	153	0.20184696569920843	C	12.47	1.948662	0.34377	0.20332	0.182827	ENSG00000120055	ENST00000239125	.	.	.	4.68	0.951	0.19579	.	0.773948	0.10608	N	0.654824	T	0.00012	0.0000	N	0.08118	0	0.53688	P	2.5000000000052758E-5	B	0.33807	0.426	B	0.32090	0.14	T	0.45891	-0.9230	8	0.33940	T	0.23	-38.6243	6.6233	0.22816	0.0:0.3488:0.0:0.6512	rs2281878	85	Q9H7T3	CJ095_HUMAN	S	85	.	ENSP00000239125:A85S	A	-	1	0	C10orf95	104200725	0.997000	0.39634	0.987000	0.45799	0.038000	0.13279	0.038000	0.13862	0.047000	0.15862	-0.350000	0.07774	GCT	C|0.759;A|0.241		0.766	C10orf95-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050065.1	NM_024886	
NRAP	4892	bcgsc.ca	37	10	115375528	115375528	+	Silent	SNP	C	C	A	rs11196397	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr10:115375528C>A	ENST00000359988.3	-	27	3265	c.3021G>T	c.(3019-3021)ccG>ccT	p.P1007P	NRAP_ENST00000360478.3_Silent_p.P972P|NRAP_ENST00000369358.4_Silent_p.P1015P|NRAP_ENST00000369360.3_Silent_p.P980P	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.P1007P(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGTCAGCAGTCGGTGTGTAAT	0.498													C|||	1140	0.227636	0.0802	0.2507	5008	,	,		20885	0.3958		0.2783	False		,,,				2504	0.1851				p.P1007P		.											.	NRAP-522	1	Substitution - coding silent(1)	stomach(1)	c.G3021T						.	C	,	450,3956	217.4+/-235.8	30,390,1783	386.0	288.0	321.0		2916,3021	1.9	0.6	10	dbSNP_120	321	2318,6282	389.1+/-342.8	312,1694,2294	no	coding-synonymous,coding-synonymous	NRAP	NM_006175.3,NM_198060.2	,	342,2084,4077	AA,AC,CC		26.9535,10.2133,21.2825	,	972/1696,1007/1731	115375528	2768,10238	2203	4300	6503	SO:0001819	synonymous_variant	4892	exon27			AGCAGTCGGTGTG		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3021G>T	10.37:g.115375528C>A		161	0		115	5	NM_001261463	0	0	0	0	0		Silent	SNP	ENST00000359988.3	37	CCDS7579.1																																																																																			C|0.772;A|0.228		0.498	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175	
MUC5B	727897	hgsc.bcm.edu	37	11	1253976	1253976	+	Missense_Mutation	SNP	A	A	G	rs76956995		TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr11:1253976A>G	ENST00000529681.1	+	17	2099	c.2041A>G	c.(2041-2043)Agc>Ggc	p.S681G	MUC5B_ENST00000447027.1_Missense_Mutation_p.S684G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	681					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)		CGTACAGCTCAGCGACTGGAG	0.687																																					p.S681G		.											.	.	0			c.A2041G						.						22.0	25.0	24.0					11																	1253976		2121	4235	6356	SO:0001583	missense	727897	exon17			CAGCTCAGCGACT	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.2041A>G	11.37:g.1253976A>G	ENSP00000436812:p.Ser681Gly	25	0		81	5	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	5.230	0.228008	0.09916	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76578	-1.03;-1.03	4.6	-7.0	0.01599	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.70605	0.3243	N	0.25144	0.715	0.09310	N	1	B;D;D	0.59357	0.425;0.985;0.985	B;P;P	0.54499	0.131;0.675;0.754	T	0.69614	-0.5098	9	0.87932	D	0	.	10.9271	0.47197	0.2958:0.5687:0.1355:0.0	.	681;1340;684	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	681;684;682;717	ENSP00000436812:S681G;ENSP00000415793:S684G	ENSP00000343037:S682G	S	+	1	0	MUC5B	1210552	0.000000	0.05858	0.011000	0.14972	0.067000	0.16453	-4.642000	0.00204	-1.098000	0.03038	0.260000	0.18958	AGC	.		0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MUC5B	727897	hgsc.bcm.edu	37	11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	rs202127660		TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					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)		CAGCTCAGCGACTGGAGGGAC	0.682																																					p.D682G		.											.	.	0			c.A2045G						.						21.0	24.0	23.0					11																	1253980		2116	4228	6344	SO:0001583	missense	727897	exon17			TCAGCGACTGGAG	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.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly	22	0		77	4	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
PTPRJ	5795	bcgsc.ca	37	11	48152214	48152214	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr11:48152214C>T	ENST00000418331.2	+	8	1913	c.1561C>T	c.(1561-1563)Cca>Tca	p.P521S	PTPRJ_ENST00000440289.2_Missense_Mutation_p.P521S	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	521	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.P521T(1)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGAAATAGTTCCAAAAGGACC	0.423																																					p.P521S		.											.	PTPRJ-541	1	Substitution - Missense(1)	skin(1)	c.C1561T						.						79.0	79.0	79.0					11																	48152214		2201	4298	6499	SO:0001583	missense	5795	exon8			ATAGTTCCAAAAG	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1561C>T	11.37:g.48152214C>T	ENSP00000400010:p.Pro521Ser	172	0		128	5	NM_001098503	0	0	2	2	0	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404342	0.62288	.	.	ENSG00000149177	ENST00000418331;ENST00000440289	T;T	0.51325	0.71;0.71	5.71	4.78	0.61160	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62877	0.2464	M	0.65498	2.005	0.32732	N	0.50883	D;D	0.89917	0.998;1.0	D;D	0.91635	0.946;0.999	T	0.66618	-0.5878	9	0.15066	T	0.55	.	12.6336	0.56671	0.0:0.8338:0.1662:0.0	.	521;521	Q12913;Q6P4H4	PTPRJ_HUMAN;.	S	521	ENSP00000400010:P521S;ENSP00000409733:P521S	ENSP00000400010:P521S	P	+	1	0	PTPRJ	48108790	0.770000	0.28543	0.998000	0.56505	0.651000	0.38670	2.145000	0.42207	1.370000	0.46153	0.655000	0.94253	CCA	.		0.423	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1		
C11orf95	65998	hgsc.bcm.edu	37	11	63531175	63531175	+	lincRNA	SNP	C	C	G	rs2959886	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr11:63531175C>G	ENST00000433688.1	-	0	1770							C9JLR9	CK095_HUMAN	chromosome 11 open reading frame 95																		CGCCCCGCCACCGCGGCTGGT	0.751													G|||	946	0.188898	0.4372	0.0937	5008	,	,		7651	0.003		0.1372	False		,,,				2504	0.1656				p.R584R		.											.	.	0			c.G1752C						.						5.0	9.0	8.0					11																	63531175		637	1527	2164			65998	exon5			CCGCCACCGCGGC	BC000572, AK096306		11q13	2011-11-24			ENSG00000188070	ENSG00000188070			28449	protein-coding gene	gene with protein product		615699				20607705	Standard	NM_001144936		Approved	MGC3032	uc010rmv.2	C9JLR9			11.37:g.63531175C>G		0	0		21	16	NM_001144936	0	0	0	5	5	A6NLS7|Q3C1V4	Silent	SNP	ENST00000433688.1	37																																																																																				C|0.216;G|0.784		0.751	C11orf95-201	KNOWN	basic	lincRNA	lincRNA		NM_001144936	
CAPN1	823	bcgsc.ca	37	11	64950970	64950970	+	Silent	SNP	C	C	T	rs17583	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr11:64950970C>T	ENST00000527323.1	+	3	603	c.363C>T	c.(361-363)atC>atT	p.I121I	CAPN1_ENST00000533820.1_Silent_p.I121I|CAPN1_ENST00000279247.6_Silent_p.I121I|CAPN1_ENST00000527469.1_3'UTR|CAPN1_ENST00000533129.1_Silent_p.I121I|AP003068.23_ENST00000526623.1_5'Flank|CAPN1_ENST00000524773.1_Silent_p.I121I			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	121	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TGGCGGCCATCGCCTCCCTCA	0.637													C|||	1225	0.244609	0.053	0.4035	5008	,	,		17061	0.2966		0.3012	False		,,,				2504	0.2791				p.I121I		.											.	CAPN1-91	0			c.C363T						.	C	,,	387,3821		14,359,1731	43.0	49.0	47.0		363,363,363	-3.1	0.9	11	dbSNP_63	47	2406,6032		320,1766,2133	no	coding-synonymous,coding-synonymous,coding-synonymous	CAPN1	NM_001198868.1,NM_001198869.1,NM_005186.3	,,	334,2125,3864	TT,TC,CC		28.5139,9.1968,22.086	,,	121/715,121/715,121/715	64950970	2793,9853	2104	4219	6323	SO:0001819	synonymous_variant	823	exon4			GGCCATCGCCTCC	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.363C>T	11.37:g.64950970C>T		191	0		116	5	NM_001198869	0	0	42	42	0	Q2TTR0|Q6DHV4	Silent	SNP	ENST00000527323.1	37	CCDS44644.1																																																																																			C|0.734;T|0.266		0.637	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1		
NPAS4	266743	bcgsc.ca	37	11	66189980	66189980	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr11:66189980T>A	ENST00000311034.2	+	3	562	c.386T>A	c.(385-387)cTc>cAc	p.L129H		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	129	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GCTGACCACCTCACTGTGCGC	0.582																																					p.L129H		.											.	NPAS4-90	0			c.T386A						.						158.0	134.0	142.0					11																	66189980		2200	4295	6495	SO:0001583	missense	266743	exon3			ACCACCTCACTGT	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.386T>A	11.37:g.66189980T>A	ENSP00000311196:p.Leu129His	181	1		163	6	NM_178864	0	0	0	0	0	B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.545138	0.65198	.	.	ENSG00000174576	ENST00000311034	T	0.16597	2.33	4.71	4.71	0.59529	PAS (2);	0.138702	0.33534	N	0.004817	T	0.21962	0.0529	N	0.22421	0.69	0.47341	D	0.999399	D	0.61080	0.989	P	0.58660	0.843	T	0.01675	-1.1298	10	0.40728	T	0.16	-7.782	12.1778	0.54196	0.0:0.0:0.0:1.0	.	129	Q8IUM7	NPAS4_HUMAN	H	129	ENSP00000311196:L129H	ENSP00000311196:L129H	L	+	2	0	NPAS4	65946556	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.604000	0.74150	1.975000	0.57531	0.460000	0.39030	CTC	.		0.582	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864	
IL18BP	10068	broad.mit.edu	37	11	71715139	71715139	+	IGR	SNP	G	G	A	rs199699067		TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr11:71715139G>A	ENST00000393703.4	+	0	1788				NUMA1_ENST00000393695.3_Missense_Mutation_p.R2044W|NUMA1_ENST00000358965.6_Missense_Mutation_p.R2030W|NUMA1_ENST00000351960.6_Missense_Mutation_p.R908W	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein						cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GACTGGCGCCGGTCAGCCTGC	0.637																																					p.R2044W		.											.	NUMA1-633	0			c.C6130T						.	G	TRP/ARG	0,4400		0,0,2200	70.0	79.0	76.0		6130	3.5	1.0	11		76	2,8584	2.2+/-6.3	0,2,4291	yes	missense	NUMA1	NM_006185.2	101	0,2,6491	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	2044/2116	71715139	2,12984	2200	4293	6493	SO:0001628	intergenic_variant	4926	exon26			GGCGCCGGTCAGC	AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5987	protein-coding gene	gene with protein product	"""MC51L-53L-54L homolog gene product"""	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713		11.37:g.71715139G>A		42	0		59	3	NM_006185	0	0	0	0	0	B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Missense_Mutation	SNP	ENST00000393703.4	37	CCDS8206.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177925	0.78564	0.0	2.33E-4	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T;T	0.33654	1.4;1.88;1.87	4.5	3.51	0.40186	.	0.143577	0.33005	N	0.005398	T	0.45337	0.1337	L	0.29908	0.895	0.39168	D	0.962541	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.981;0.994;0.981;0.99	T	0.49925	-0.8887	10	0.87932	D	0	.	12.2149	0.54400	0.0:0.0:0.7687:0.2313	.	2050;2030;2044;908	Q4LE64;Q14980-2;Q14980;Q9BTE9	.;.;NUMA1_HUMAN;.	W	908;2030;2044;1593;1017	ENSP00000260051:R908W;ENSP00000351851:R2030W;ENSP00000377298:R2044W	ENSP00000260051:R908W	R	-	1	2	NUMA1	71392787	0.949000	0.32298	1.000000	0.80357	0.963000	0.63663	1.322000	0.33689	2.503000	0.84419	0.561000	0.74099	CGG	.		0.637	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042	
PHOX2A	401	hgsc.bcm.edu	37	11	71954893	71954893	+	Silent	SNP	G	G	A	rs182932220	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr11:71954893G>A	ENST00000298231.5	-	1	327	c.156C>T	c.(154-156)ctC>ctT	p.L52L	PHOX2A_ENST00000544057.1_Intron	NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN	paired-like homeobox 2a	52					dopaminergic neuron differentiation (GO:0071542)|locus ceruleus development (GO:0021703)|midbrain development (GO:0030901)|noradrenergic neuron differentiation (GO:0003357)|oculomotor nerve formation (GO:0021623)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of respiratory gaseous exchange (GO:0043576)|somatic motor neuron differentiation (GO:0021523)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|trochlear nerve formation (GO:0021642)	nuclear chromatin (GO:0000790)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						TGGAGGAGCCGAGCGCGGGGC	0.741													g|||	70	0.0139776	0.0015	0.013	5008	,	,		7842	0.006		0.0378	False		,,,				2504	0.0153				p.L52L		.											.	PHOX2A-90	0			c.C156T						.			15,3377		0,15,1681	2.0	3.0	3.0		156	3.5	1.0	11		3	189,6897		1,187,3355	no	coding-synonymous	PHOX2A	NM_005169.3		1,202,5036	AA,AG,GG		2.6672,0.4422,1.9469		52/285	71954893	204,10274	1696	3543	5239	SO:0001819	synonymous_variant	401	exon1			GGAGCCGAGCGCG	AF022722	CCDS8214.1	11q13.4	2014-09-04	2007-07-12	2003-02-14	ENSG00000165462	ENSG00000165462		"""Homeoboxes / PRD class"""	691	protein-coding gene	gene with protein product		602753	"""aristaless (Drosophila) homeobox, aristaless homeobox (Drosophila), fibrosis of extraocular muscles, congenital, 2, autosomal recessive"", ""paired-like (aristaless) homeobox 2a"""	ARIX, FEOM2		8661014, 11600883	Standard	NM_005169		Approved	PMX2A, CFEOM2	uc001osh.4	O14813	OTTHUMG00000167899	ENST00000298231.5:c.156C>T	11.37:g.71954893G>A		0	0		9	8	NM_005169	0	0	0	0	0	A8K3N0|Q8IVZ2	Silent	SNP	ENST00000298231.5	37	CCDS8214.1																																																																																			G|0.980;A|0.020		0.741	PHOX2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396885.1	NM_005169	
TMPO	7112	bcgsc.ca	37	12	98927830	98927830	+	Intron	SNP	C	C	G	rs17459334	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr12:98927830C>G	ENST00000556029.1	+	3	921				TMPO_ENST00000266732.4_Missense_Mutation_p.Q599E|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGACATTAGTCAAGCTGCACA	0.468													C|||	295	0.0589058	0.003	0.0403	5008	,	,		22302	0.001		0.1093	False		,,,				2504	0.1554				p.Q599E		.											.	TMPO-93	0			c.C1795G						.	C	,,GLU/GLN	95,4311	77.3+/-115.6	2,91,2110	99.0	79.0	86.0		,,1795	6.0	1.0	12	dbSNP_123	86	830,7770	192.0+/-238.1	32,766,3502	yes	intron,intron,missense	TMPO	NM_001032283.2,NM_001032284.2,NM_003276.2	,,29	34,857,5612	GG,GC,CC		9.6512,2.1562,7.1121	,,possibly-damaging	,,599/695	98927830	925,12081	2203	4300	6503	SO:0001627	intron_variant	7112	exon4			ATTAGTCAAGCTG		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+2214C>G	12.37:g.98927830C>G		55	0		128	5	NM_003276	0	0	25	25	0	A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	CCDS31879.1	101	0.04624542124542125	1	0.0020325203252032522	19	0.052486187845303865	0	0.0	81	0.10686015831134564	C	14.20	2.463925	0.43736	0.021562	0.096512	ENSG00000120802	ENST00000266732	T	0.59772	0.24	5.96	5.96	0.96718	.	0.461649	0.22945	N	0.053734	T	0.01254	0.0041	N	0.24115	0.695	0.09310	P	1.0	P	0.49090	0.919	P	0.44447	0.45	T	0.10428	-1.0630	9	0.42905	T	0.14	.	15.9221	0.79583	0.0:1.0:0.0:0.0	rs17459334;rs52831524;rs17459334	599	P42166	LAP2A_HUMAN	E	599	ENSP00000266732:Q599E	ENSP00000266732:Q599E	Q	+	1	0	TMPO	97451961	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.147000	0.42226	2.832000	0.97577	0.655000	0.94253	CAA	C|0.934;G|0.066		0.468	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276	
GOLGA3	2802	bcgsc.ca	37	12	133372758	133372758	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr12:133372758G>T	ENST00000450791.2	-	10	2332	c.2149C>A	c.(2149-2151)Cag>Aag	p.Q717K	GOLGA3_ENST00000537452.1_Missense_Mutation_p.Q717K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.Q717K|GOLGA3_ENST00000204726.3_Missense_Mutation_p.Q717K|GOLGA3_ENST00000545875.1_Missense_Mutation_p.Q717K			Q08378	GOGA3_HUMAN	golgin A3	717	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		AGGTGCTCCTGCTGCAAAGCC	0.582																																					p.Q717K		.											.	GOLGA3-95	0			c.C2149A						.						33.0	35.0	34.0					12																	133372758		2197	4292	6489	SO:0001583	missense	2802	exon11			GCTCCTGCTGCAA	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2149C>A	12.37:g.133372758G>T	ENSP00000410378:p.Gln717Lys	59	0		57	5	NM_001172557	0	0	16	16	0	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252693	0.22965	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.29397	1.99;1.99;2.0;1.57;1.57	5.38	4.47	0.54385	.	0.105345	0.64402	D	0.000003	T	0.30293	0.0760	M	0.66939	2.045	0.80722	D	1	B;B;B	0.28233	0.204;0.091;0.003	B;B;B	0.26770	0.073;0.044;0.006	T	0.11060	-1.0603	10	0.07482	T	0.82	.	15.2736	0.73726	0.0:0.0:0.8586:0.1414	.	717;717;717	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	K	717	ENSP00000204726:Q717K;ENSP00000410378:Q717K;ENSP00000409303:Q717K;ENSP00000442143:Q717K;ENSP00000442603:Q717K	ENSP00000204726:Q717K	Q	-	1	0	GOLGA3	131882831	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.432000	0.66514	1.225000	0.43566	0.609000	0.83330	CAG	.		0.582	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895	
NYNRIN	57523	bcgsc.ca	37	14	24878485	24878485	+	Silent	SNP	G	G	A	rs12897153	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr14:24878485G>A	ENST00000382554.3	+	4	1803	c.1485G>A	c.(1483-1485)ccG>ccA	p.P495P		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	495					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.P495P(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GAGGTGAGCCGGGGGATCAAG	0.577													G|||	440	0.0878594	0.1415	0.1052	5008	,	,		18385	0.0		0.1362	False		,,,				2504	0.044				p.P495P		.											.	NYNRIN-3	2	Substitution - coding silent(2)	lung(2)	c.G1485A						.	G		562,3228		37,488,1370	39.0	42.0	41.0		1485	-9.6	0.0	14	dbSNP_121	41	1133,7071		92,949,3061	no	coding-synonymous	NYNRIN	NM_025081.2		129,1437,4431	AA,AG,GG		13.8103,14.8285,14.1321		495/1899	24878485	1695,10299	1895	4102	5997	SO:0001819	synonymous_variant	57523	exon4			TGAGCCGGGGGAT	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1485G>A	14.37:g.24878485G>A		73	0		49	4	NM_025081	0	0	1	1	0	Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	CCDS45090.1																																																																																			G|0.896;A|0.104		0.577	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1		
NIN	51199	broad.mit.edu	37	14	51223460	51223460	+	Missense_Mutation	SNP	T	T	A	rs41299193	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr14:51223460T>A	ENST00000382041.3	-	18	4478	c.4288A>T	c.(4288-4290)Ata>Tta	p.I1430L	NIN_ENST00000245441.5_Missense_Mutation_p.I1430L|NIN_ENST00000530997.2_Missense_Mutation_p.I1430L|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.I1430L|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.I1430L	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1430					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					tcctccagtataacttgattc	0.403			T	PDGFRB	MPD								T|||	5	0.000998403	0.0	0.0	5008	,	,		23619	0.0		0.005	False		,,,				2504	0.0				p.I1430L		.		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	.	NIN-229	0			c.A4288T						.	T	,LEU/ILE,LEU/ILE,LEU/ILE	4,3812		0,4,1904	116.0	97.0	104.0		,4288,4288,4288	-10.7	0.0	14	dbSNP_127	104	19,7083		0,19,3532	yes	intron,missense,missense,missense	NIN	NM_016350.4,NM_020921.3,NM_182944.2,NM_182946.1	,5,5,5	0,23,5436	AA,AT,TT		0.2675,0.1048,0.2107	,benign,benign,benign	,1430/2134,1430/2047,1430/2091	51223460	23,10895	1908	3551	5459	SO:0001583	missense	51199	exon18			CCAGTATAACTTG	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.4288A>T	14.37:g.51223460T>A	ENSP00000371472:p.Ile1430Leu	75	0		44	3	NM_020921	0	0	1	1	0	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	CCDS32079.1	3|3	0.0013736263736263737|0.0013736263736263737	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	3|3	0.00395778364116095|0.00395778364116095	T|T	1.332|1.332	-0.596412|-0.596412	0.03771|0.03771	0.001048|0.001048	0.002675|0.002675	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|.	0.06294|.	3.59;3.33;3.32;3.33|.	5.35|5.35	-10.7|-10.7	0.00240|0.00240	.|.	2.077890|.	0.02270|.	N|.	0.068370|.	T|T	0.11452|0.11452	0.0279|0.0279	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0|.	T|T	0.12192|0.12192	-1.0557|-1.0557	10|5	0.28530|.	T|.	0.3|.	5.3325|5.3325	0.4571|0.4571	0.00511|0.00511	0.2882:0.1878:0.2952:0.2288|0.2882:0.1878:0.2952:0.2288	rs41299193|rs41299193	1436;1430;1430;1430|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	L|F	1430;1413;1436;1430;1430;1430|920	ENSP00000245441:I1430L;ENSP00000371472:I1430L;ENSP00000324210:I1430L;ENSP00000412391:I1430L|.	ENSP00000245441:I1430L|.	I|Y	-|-	1|2	0|0	NIN|NIN	50293210|50293210	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.028000|0.028000	0.11728|0.11728	-0.556000|-0.556000	0.05992|0.05992	-2.866000|-2.866000	0.00325|0.00325	-2.419000|-2.419000	0.00218|0.00218	ATA|TAT	T|0.997;A|0.003		0.403	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	
THBS1	7057	bcgsc.ca	37	15	39882178	39882178	+	Missense_Mutation	SNP	A	A	G	rs2228262	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr15:39882178A>G	ENST00000260356.5	+	13	2264	c.2099A>G	c.(2098-2100)aAt>aGt	p.N700S		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	700			N -> S (in dbSNP:rs2228262). {ECO:0000269|Ref.4}.		activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GGCTGGCCCAATGAGAACCTG	0.572													A|||	201	0.0401358	0.0136	0.0533	5008	,	,		18546	0.002		0.1064	False		,,,				2504	0.0378				p.N700S		.											.	THBS1-653	0			c.A2099G	GRCh37	CM043345	THBS1	M	rs2228262	.	A	SER/ASN	159,4241	106.9+/-145.3	4,151,2045	90.0	72.0	78.0		2099	6.0	1.0	15	dbSNP_98	78	982,7612	206.2+/-248.4	49,884,3364	yes	missense	THBS1	NM_003246.2	46	53,1035,5409	GG,GA,AA		11.4266,3.6136,8.781	probably-damaging	700/1171	39882178	1141,11853	2200	4297	6497	SO:0001583	missense	7057	exon13			GGCCCAATGAGAA		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2099A>G	15.37:g.39882178A>G	ENSP00000260356:p.Asn700Ser	218	0		145	6	NM_003246	0	0	8	8	0	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	CCDS32194.1	116	0.05311355311355311	6	0.012195121951219513	24	0.06629834254143646	3	0.005244755244755245	83	0.10949868073878628	A	32	5.127644	0.94473	0.036136	0.114266	ENSG00000137801	ENST00000260356	D	0.97870	-4.58	5.99	5.99	0.97316	.	0.000000	0.38381	N	0.001703	T	0.66954	0.2842	M	0.71036	2.16	0.09310	P	0.99999145411	D;D	0.69078	0.994;0.997	P;D	0.65010	0.894;0.931	T	0.67321	-0.5700	9	0.72032	D	0.01	-31.7732	16.4645	0.84074	1.0:0.0:0.0:0.0	rs2228262;rs17632786;rs52798888;rs59160172;rs2228262	615;700	B4E3J7;P07996	.;TSP1_HUMAN	S	700	ENSP00000260356:N700S	ENSP00000260356:N700S	N	+	2	0	THBS1	37669470	1.000000	0.71417	0.978000	0.43139	0.991000	0.79684	9.339000	0.96797	2.292000	0.77174	0.533000	0.62120	AAT	A|0.930;G|0.070		0.572	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246	
SPINT1	6692	bcgsc.ca	37	15	41148199	41148199	+	Silent	SNP	C	C	T	rs659232	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr15:41148199C>T	ENST00000344051.4	+	9	1509	c.1275C>T	c.(1273-1275)taC>taT	p.Y425Y	SPINT1_ENST00000562057.1_Silent_p.Y409Y|SPINT1_ENST00000431806.1_Silent_p.Y409Y			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	425	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GTGGTTGTTACGGCAACAAGA	0.572													T|||	4276	0.853834	0.7481	0.8905	5008	,	,		21855	0.9901		0.829	False		,,,				2504	0.8558				p.Y425Y		.											.	SPINT1-91	0			c.C1275T						.	T	,,	3383,1023	379.2+/-323.2	1303,777,123	154.0	146.0	149.0		1227,1227,1275	-1.4	0.4	15	dbSNP_83	149	7033,1567	293.8+/-301.5	2873,1287,140	no	coding-synonymous,coding-synonymous,coding-synonymous	SPINT1	NM_001032367.1,NM_003710.3,NM_181642.2	,,	4176,2064,263	TT,TC,CC		18.2209,23.2183,19.9139	,,	409/514,409/514,425/530	41148199	10416,2590	2203	4300	6503	SO:0001819	synonymous_variant	6692	exon9			TTGTTACGGCAAC		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.1275C>T	15.37:g.41148199C>T		172	1		130	5	NM_181642	0	0	0	0	0	Q7Z7D2	Silent	SNP	ENST00000344051.4	37	CCDS10067.1																																																																																			C|0.173;T|0.827		0.572	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710	
LACTB	114294	hgsc.bcm.edu	37	15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	rs34317102	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4.0	4.0	4.0		13,13	3.1	1.0	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	0	0		8	8	NM_171846	0	0	0	3	3	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857	
LMAN1L	79748	bcgsc.ca	37	15	75113023	75113023	+	Silent	SNP	G	G	A	rs145422132	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr15:75113023G>A	ENST00000309664.5	+	8	961	c.822G>A	c.(820-822)agG>agA	p.R274R	LMAN1L_ENST00000379709.3_Silent_p.R262R|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	274						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCTGGCGAGGCAGCTGGAAG	0.602													G|||	47	0.00938498	0.0	0.0115	5008	,	,		20497	0.0		0.0298	False		,,,				2504	0.0092				p.R274R		.											.	LMAN1L-90	0			c.G822A						.	G		32,4362	37.6+/-69.7	0,32,2165	71.0	72.0	72.0		822	3.5	0.8	15	dbSNP_134	72	292,8300	107.4+/-168.2	4,284,4008	no	coding-synonymous	LMAN1L	NM_021819.2		4,316,6173	AA,AG,GG		3.3985,0.7283,2.495		274/527	75113023	324,12662	2197	4296	6493	SO:0001819	synonymous_variant	79748	exon8			GGCGAGGCAGCTG	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.822G>A	15.37:g.75113023G>A		54	0		53	4	NM_021819	0	0	0	0	0	Q6UWN2	Silent	SNP	ENST00000309664.5	37	CCDS10270.1																																																																																			G|0.980;A|0.020		0.602	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4		
ADAMTS7	11173	ucsc.edu	37	15	79067063	79067063	+	Silent	SNP	A	A	G	rs117662146	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr15:79067063A>G	ENST00000388820.4	-	12	1989	c.1779T>C	c.(1777-1779)ccT>ccC	p.P593P	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	593	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P593P(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGCGGCCAGCAGGGCAGGCCT	0.642																																					p.P593P		.											.	ADAMTS7-226	2	Substitution - coding silent(2)	prostate(2)	c.T1779C						.						51.0	58.0	55.0					15																	79067063		2196	4293	6489	SO:0001819	synonymous_variant	11173	exon12			GCCAGCAGGGCAG	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1779T>C	15.37:g.79067063A>G		59	2		52	7	NM_014272	0	0	0	0	0	Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	CCDS32303.1																																																																																			A|0.996;G|0.004		0.642	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
POLG	5428	broad.mit.edu	37	15	89876828	89876830	+	In_Frame_Del	DEL	TGC	TGC	-	rs527965158|rs587781117|rs573261648|rs369920352	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr15:89876828_89876830delTGC	ENST00000268124.5	-	2	489_491	c.156_158delGCA	c.(154-159)cagcaa>caa	p.52_53QQ>Q	POLG_ENST00000442287.2_In_Frame_Del_p.52_53QQ>Q|POLG_ENST00000525806.1_5'Flank|RP11-217B1.2_ENST00000569473.1_RNA|RP11-217B1.2_ENST00000562356.1_RNA	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	52	Poly-Gln.				aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			aggctgctgttgctgctgctgct	0.69								DNA polymerases (catalytic subunits)																													p.52_53del	Colon(73;648 1203 11348 18386 27782)	.											.	POLG-228	0			c.156_158del						.																																			SO:0001651	inframe_deletion	5428	exon2			TGCTGTTGCTGCT	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.156_158delGCA	15.37:g.89876837_89876839delTGC	ENSP00000268124:p.Gln55del	6	0		14	8	NM_002693	0	0	0	0	0	Q8NFM2|Q92515	In_Frame_Del	DEL	ENST00000268124.5	37	CCDS10350.1																																																																																			.		0.690	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693	
PDIA2	64714	bcgsc.ca	37	16	336396	336396	+	Missense_Mutation	SNP	G	G	A	rs400037	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr16:336396G>A	ENST00000219406.6	+	8	1181	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q	PDIA2_ENST00000404312.1_Missense_Mutation_p.R385Q	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	388	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.		R -> Q (in dbSNP:rs400037).		cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TGGGATCAGCGGCCAGTTAAG	0.562													g|||	844	0.16853	0.3457	0.1455	5008	,	,		12070	0.0377		0.1899	False		,,,				2504	0.0583				p.R388Q		.											.	PDIA2-91	0			c.G1163A						.		GLN/ARG	1142,2676		163,816,930	58.0	64.0	62.0		1163	-2.3	1.0	16	dbSNP_80	62	1679,6571		183,1313,2629	yes	missense	PDIA2	NM_006849.2	43	346,2129,3559	AA,AG,GG		20.3515,29.9109,23.3759	benign	388/526	336396	2821,9247	1909	4125	6034	SO:0001583	missense	64714	exon8			ATCAGCGGCCAGT	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"""Protein disulfide isomerases"""	14180	protein-coding gene	gene with protein product		608012	"""protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2"""	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.1163G>A	16.37:g.336396G>A	ENSP00000219406:p.Arg388Gln	208	1		239	7	NM_006849	0	0	0	0	0	A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	CCDS42089.1	394	0.1804029304029304	177	0.3597560975609756	51	0.1408839779005525	27	0.0472027972027972	139	0.18337730870712401	g	0.021	-1.423957	0.01126	0.299109	0.203515	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312;ENST00000435833	T;T;T	0.16897	2.31;2.31;3.97	4.04	-2.31	0.06765	Thioredoxin-like fold (3);	1.119980	0.06633	N	0.759534	T	0.00012	0.0000	N	0.01188	-0.97	0.80722	P	0.0	B	0.12013	0.005	B	0.10450	0.005	T	0.46442	-0.9191	9	0.02654	T	1	.	9.7883	0.40690	0.6167:0.0:0.3833:0.0	rs400037;rs58645006;rs400037	388	Q13087	PDIA2_HUMAN	Q	388;357;385;17	ENSP00000219406:R388Q;ENSP00000384410:R385Q;ENSP00000405081:R17Q	ENSP00000219406:R388Q	R	+	2	0	PDIA2	276397	0.000000	0.05858	0.958000	0.39756	0.812000	0.45895	-0.094000	0.11094	-0.251000	0.09542	0.479000	0.44913	CGG	G|0.810;A|0.190		0.562	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849	
MEFV	4210	hgsc.bcm.edu	37	16	3304573	3304573	+	Silent	SNP	G	G	T	rs224223	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr16:3304573G>T	ENST00000219596.1	-	2	534	c.495C>A	c.(493-495)gcC>gcA	p.A165A	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	165					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.A165A(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGCCCTCCGAGGCCTTCTCTC	0.766													G|||	1935	0.386382	0.528	0.5965	5008	,	,		10896	0.1667		0.4732	False		,,,				2504	0.183				p.A165A		.											.	MEFV-228	2	Substitution - coding silent(2)	prostate(2)	c.C495A						.	G	,	2112,2188		580,952,618	7.0	7.0	7.0		495,	2.9	0.0	16	dbSNP_79	7	3826,4590		964,1898,1346	no	coding-synonymous,intron	MEFV	NM_000243.2,NM_001198536.1	,	1544,2850,1964	TT,TG,GG		45.461,49.1163,46.6971	,	165/782,	3304573	5938,6778	2150	4208	6358	SO:0001819	synonymous_variant	4210	exon2			CTCCGAGGCCTTC	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.495C>A	16.37:g.3304573G>T		0	0		12	5	NM_000243	0	0	0	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																			G|0.570;T|0.430		0.766	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243	
CCDC102A	92922	hgsc.bcm.edu	37	16	57562804	57562804	+	Missense_Mutation	SNP	G	G	A	rs12935069		TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr16:57562804G>A	ENST00000258214.2	-	2	532	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	96				R -> W (in Ref. 2; AAH08285/AAH09941). {ECO:0000305}.						endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCGACCACCGGCGCATGGTC	0.731													A|||	5008	1.0	1.0	1.0	5008	,	,		3757	1.0		1.0	False		,,,				2504	1.0				p.R96W		.											.	CCDC102A-91	0			c.C286T						.						8.0	10.0	9.0					16																	57562804		1834	3717	5551	SO:0001583	missense	92922	exon2			ACCACCGGCGCAT	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.286C>T	16.37:g.57562804G>A	ENSP00000258214:p.Arg96Trp	0	0		6	6	NM_033212	0	0	0	2	2	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	2180	0.9981684981684982	492	1.0	360	0.994475138121547	570	0.9965034965034965	758	1.0	A	10.17	1.277909	0.23307	.	.	ENSG00000135736	ENST00000258214	T	0.37752	1.18	4.82	4.82	0.62117	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00049	-2.415	0.40217	P	0.022302999999999962	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	9	0.33141	T	0.24	-23.2491	9.5348	0.39216	0.9152:0.0:0.0848:0.0	rs12935069;rs12935069	96	Q96A19	C102A_HUMAN	W	96	ENSP00000258214:R96W	ENSP00000258214:R96W	R	-	1	2	CCDC102A	56120305	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.801000	0.75170	0.698000	0.31739	-0.556000	0.04195	CGG	G|0.001;A|0.999		0.731	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212	
GPR97	222487	bcgsc.ca	37	16	57722328	57722328	+	Silent	SNP	C	C	T	rs12444859	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr16:57722328C>T	ENST00000333493.4	+	12	1766	c.1605C>T	c.(1603-1605)tcC>tcT	p.S535S	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.S415S|GPR97_ENST00000327655.6_Intron	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	535					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGTCTCCTCCTCTACTGCAA	0.557													c|||	1740	0.347444	0.441	0.3127	5008	,	,		20043	0.3274		0.3221	False		,,,				2504	0.2924				p.S535S		.											.	GPR97-91	0			c.C1605T						.	C		1895,2501	544.0+/-376.4	427,1041,730	182.0	162.0	169.0		1605	-7.1	0.0	16	dbSNP_120	169	2658,5942	428.2+/-355.8	412,1834,2054	no	coding-synonymous	GPR97	NM_170776.4		839,2875,2784	TT,TC,CC		30.907,43.1074,35.0339		535/550	57722328	4553,8443	2198	4300	6498	SO:0001819	synonymous_variant	222487	exon12			CTCCTCCTCTACT	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1605C>T	16.37:g.57722328C>T		199	0		205	7	NM_170776	0	0	0	0	0	Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	CCDS10786.1																																																																																			C|0.646;T|0.354		0.557	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776	
ADAD2	161931	hgsc.bcm.edu	37	16	84224967	84224967	+	Missense_Mutation	SNP	G	G	A	rs8044695|rs554488585	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr16:84224967G>A	ENST00000315906.5	+	1	183	c.131G>A	c.(130-132)gGg>gAg	p.G44E	RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.G44E|RP11-486L19.2_ENST00000561900.1_RNA|ADAD2_ENST00000567413.1_3'UTR|RP11-486L19.2_ENST00000536986.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	44			G -> E (in dbSNP:rs8044695). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}.		RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AGTGCCTgggggcccgcgccc	0.751														3435	0.685903	0.8616	0.6686	5008	,	,		11640	0.6677		0.6471	False		,,,				2504	0.5194				p.G44E		.											.	ADAD2-68	0			c.G131A						.	A	GLU/GLY,GLU/GLY	3145,519		1356,433,43	5.0	7.0	7.0		131,131	-1.1	0.0	16	dbSNP_116	7	5102,2224		1808,1486,369	no	missense,missense	ADAD2	NM_001145400.1,NM_139174.3	98,98	3164,1919,412	AA,AG,GG		30.3576,14.1648,24.9591	benign,benign	44/584,44/666	84224967	8247,2743	1832	3663	5495	SO:0001583	missense	161931	exon1			CCTGGGGGCCCGC	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.131G>A	16.37:g.84224967G>A	ENSP00000325153:p.Gly44Glu	0	0		5	5	NM_001145400	0	0	0	0	0	B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	CCDS45536.1	1545	0.7074175824175825	420	0.8536585365853658	227	0.6270718232044199	403	0.7045454545454546	495	0.6530343007915568	A	0.689	-0.795256	0.02862	0.858352	0.696424	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.16196	2.36;2.47	3.61	-1.07	0.09968	.	1.276770	0.06034	N	0.653713	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.30297	-0.9983	9	0.02654	T	1	-5.6132	8.9029	0.35505	0.4397:0.0:0.5603:0.0	rs8044695;rs57310648	44;44	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	E	44	ENSP00000325153:G44E;ENSP00000268624:G44E	ENSP00000268624:G44E	G	+	2	0	ADAD2	82782468	0.057000	0.20700	0.000000	0.03702	0.002000	0.02628	-0.069000	0.11542	-0.575000	0.05982	-1.305000	0.01319	GGG	G|0.292;A|0.708		0.751	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174	
TLDC1	57707	bcgsc.ca	37	16	84516309	84516309	+	Silent	SNP	G	G	A	rs433293	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr16:84516309G>A	ENST00000343629.6	-	6	1148	c.966C>T	c.(964-966)aaC>aaT	p.N322N	TLDC1_ENST00000535580.1_Silent_p.N295N	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	322	TLD.					lysosomal membrane (GO:0005765)											GGAAGCATCTGTTGTCCCCTG	0.547													G|||	2201	0.439497	0.1959	0.5187	5008	,	,		21112	0.5575		0.4205	False		,,,				2504	0.6104				p.N322N		.											.	KIAA1609-92	0			c.C966T						.	G		1090,3310	392.6+/-328.5	145,800,1255	120.0	91.0	101.0		966	2.1	0.0	16	dbSNP_80	101	3644,4956	523.9+/-380.4	767,2110,1423	no	coding-synonymous	KIAA1609	NM_020947.3		912,2910,2678	AA,AG,GG		42.3721,24.7727,36.4154		322/457	84516309	4734,8266	2200	4300	6500	SO:0001819	synonymous_variant	57707	exon6			GCATCTGTTGTCC	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.966C>T	16.37:g.84516309G>A		317	4		367	12	NM_020947	0	0	0	0	0	Q8IZ64|Q9HCG3|Q9NTE8	Silent	SNP	ENST00000343629.6	37	CCDS32498.1																																																																																			G|0.625;A|0.375		0.547	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947	
ZNF469	84627	broad.mit.edu;bcgsc.ca	37	16	88502208	88502208	+	Missense_Mutation	SNP	A	A	T	rs3812954	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr16:88502208A>T	ENST00000437464.1	+	2	8246	c.8246A>T	c.(8245-8247)gAc>gTc	p.D2749V	ZNF469_ENST00000565624.1_Missense_Mutation_p.D2777V	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	2749			D -> V (in dbSNP:rs3812954).		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(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						CCTGCGGAGGACAGCAGCAGG	0.652													A|||	218	0.0435304	0.0068	0.0432	5008	,	,		16230	0.0427		0.0984	False		,,,				2504	0.0378				p.D2749V		.											.	.	0			c.A8246T						.	A	VAL/ASP	16,1368		1,14,677	45.0	62.0	57.0		8246	2.2	0.0	16	dbSNP_107	57	239,2943		7,225,1359	yes	missense	ZNF469	NM_001127464.1	152	8,239,2036	TT,TA,AA		7.511,1.1561,5.5848	possibly-damaging	2749/3926	88502208	255,4311	692	1591	2283	SO:0001583	missense	84627	exon2			CGGAGGACAGCAG	AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.8246A>T	16.37:g.88502208A>T	ENSP00000402343:p.Asp2749Val	50	0		65	4	NM_001127464	0	0	3	3	0		Missense_Mutation	SNP	ENST00000437464.1	37	CCDS45544.1	123	0.05631868131868132	6	0.012195121951219513	23	0.06353591160220995	27	0.0472027972027972	67	0.08839050131926121	A	11.24	1.580640	0.28180	0.011561	0.07511	ENSG00000225614	ENST00000437464	T	0.07567	3.18	4.56	2.24	0.28232	.	.	.	.	.	T	0.00210	0.0006	N	0.19112	0.55	0.80722	P	0.0	P	0.46512	0.879	B	0.37943	0.261	T	0.38887	-0.9640	8	0.62326	D	0.03	.	5.1164	0.14836	0.544:0.3576:0.0984:0.0	rs3812954	2749	Q96JG9	ZN469_HUMAN	V	2749	ENSP00000402343:D2749V	ENSP00000402343:D2749V	D	+	2	0	ZNF469	87029709	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.155000	0.10115	0.136000	0.18733	0.459000	0.35465	GAC	A|0.058;T|0.942		0.652	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NG_012236	
ANKRD11	29123	hgsc.bcm.edu	37	16	89346883	89346883	+	Missense_Mutation	SNP	C	C	G	rs60520302	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr16:89346883C>G	ENST00000301030.4	-	9	6527	c.6067G>C	c.(6067-6069)Gcc>Ccc	p.A2023P	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A2023P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2023	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCGTACGGGGCAGGAGAGGCG	0.736													C|||	188	0.0375399	0.028	0.0245	5008	,	,		12625	0.0744		0.0507	False		,,,				2504	0.0082				p.A2023P		.											.	ANKRD11-139	0			c.G6067C						.	C	PRO/ALA	54,2948		0,54,1447	6.0	8.0	7.0		6067	0.2	0.0	16	dbSNP_129	7	203,6379		8,187,3096	no	missense	ANKRD11	NM_013275.4	27	8,241,4543	GG,GC,CC		3.0842,1.7988,2.6816	benign	2023/2664	89346883	257,9327	1501	3291	4792	SO:0001583	missense	29123	exon9			ACGGGGCAGGAGA	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.6067G>C	16.37:g.89346883C>G	ENSP00000301030:p.Ala2023Pro	0	0		9	6	NM_001256183	0	0	6	12	6	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	104	0.047619047619047616	12	0.024390243902439025	6	0.016574585635359115	38	0.06643356643356643	48	0.0633245382585752	c	0.719	-0.784169	0.02907	0.017988	0.030842	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.37584	1.19;1.19	0.207	0.207	0.15214	.	0.876393	0.09724	N	0.764014	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	0.999998	B	0.34372	0.451	B	0.20384	0.029	T	0.09640	-1.0665	9	0.34782	T	0.22	.	.	.	.	rs60520302	2023	Q6UB99	ANR11_HUMAN	P	2023	ENSP00000301030:A2023P;ENSP00000367581:A2023P	ENSP00000301030:A2023P	A	-	1	0	ANKRD11	87874384	0.046000	0.20272	0.026000	0.17262	0.028000	0.11728	0.465000	0.22004	0.293000	0.22520	0.298000	0.19748	GCC	C|0.952;G|0.048		0.736	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275	
GAS8	2622	bcgsc.ca	37	16	90102835	90102835	+	Silent	SNP	A	A	G	rs868045	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr16:90102835A>G	ENST00000268699.4	+	6	719	c.597A>G	c.(595-597)gaA>gaG	p.E199E	GAS8_ENST00000536122.1_Silent_p.E174E|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	199	Microtubule-binding.		E -> K (in dbSNP:rs868044).		cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		TGAGGGACGAACTCGACTTGC	0.542													G|||	1324	0.264377	0.3933	0.2493	5008	,	,		22057	0.0079		0.3907	False		,,,				2504	0.2352				p.E199E		.											.	GAS8-227	0			c.A597G						.	G		1719,2677	648.6+/-398.7	337,1045,816	107.0	91.0	97.0		597	1.3	0.4	16	dbSNP_86	97	3532,5068	631.5+/-398.5	725,2082,1493	no	coding-synonymous	GAS8	NM_001481.2		1062,3127,2309	GG,GA,AA		41.0698,39.1037,40.4047		199/479	90102835	5251,7745	2198	4300	6498	SO:0001819	synonymous_variant	2622	exon6			GGACGAACTCGAC	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.597A>G	16.37:g.90102835A>G		332	0		356	9	NM_001481	0	0	34	34	0	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Silent	SNP	ENST00000268699.4	37	CCDS10992.1																																																																																			A|0.644;G|0.356		0.542	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2		
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487		TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667																																					p.R51R		.											.	.	6	Substitution - coding silent(6)	endometrium(3)|kidney(2)|lung(1)	c.G153A						.						9.0	15.0	13.0					17																	39274415		682	1579	2261	SO:0001819	synonymous_variant	653240	exon1			CTGGGGCCTGCAG	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.153G>A	17.37:g.39274415C>T		49	1		167	7	NM_033059	0	0	0	2	2	A0AUY2	Silent	SNP	ENST00000391413.2	37	CCDS45675.1																																																																																			.		0.667	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
ASB16	92591	hgsc.bcm.edu	37	17	42254236	42254236	+	Missense_Mutation	SNP	G	G	A	rs74491716	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr17:42254236G>A	ENST00000293414.1	+	3	784	c.700G>A	c.(700-702)Gcc>Acc	p.A234T	ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000588785.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	234					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGAGCATGGCGCCGACGTGGG	0.726													G|||	71	0.0141773	0.0	0.0245	5008	,	,		11118	0.0		0.0328	False		,,,				2504	0.0215				p.A234T		.											.	ASB16-227	0			c.G700A						.	G	THR/ALA,CYS/ARG	18,4380		0,18,2181	17.0	17.0	17.0		700,385	5.2	0.1	17	dbSNP_132	17	231,8353		5,221,4066	yes	missense,missense	ASB16,C17orf65	NM_080863.4,NM_178542.3	58,180	5,239,6247	AA,AG,GG		2.6911,0.4093,1.918	probably-damaging,probably-damaging	234/454,129/194	42254236	249,12733	2199	4292	6491	SO:0001583	missense	92591	exon3			CATGGCGCCGACG	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.700G>A	17.37:g.42254236G>A	ENSP00000293414:p.Ala234Thr	2	0		33	20	NM_080863	0	0	5	5	0	B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	CCDS11478.1	36|36	0.016483516483516484|0.016483516483516484	0|0	0.0|0.0	11|11	0.03038674033149171|0.03038674033149171	0|0	0.0|0.0	25|25	0.032981530343007916|0.032981530343007916	G|G	22.3|22.3	4.273687|4.273687	0.80580|0.80580	0.004093|0.004093	0.026911|0.026911	ENSG00000161664|ENSG00000168597	ENST00000293414|ENST00000303061	T|.	0.70631|.	-0.5|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Ankyrin repeat-containing domain (3);|.	0.105147|.	0.64402|.	D|.	0.000005|.	T|T	0.55433|0.55433	0.1920|0.1920	M|M	0.70787|0.70787	2.145|2.145	0.53688|0.53688	D|D	0.999971|0.999971	D|D	0.76494|0.76494	0.999|0.999	D|P	0.63597|0.60682	0.916|0.878	T|T	0.72228|0.72228	-0.4354|-0.4354	10|8	0.87932|0.87932	D|D	0|0	-17.2603|-17.2603	17.7171|17.7171	0.88341|0.88341	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	234|129	Q96NS5|Q495Z4	ASB16_HUMAN|CQ065_HUMAN	T|C	234|129	ENSP00000293414:A234T|.	ENSP00000293414:A234T|ENSP00000366342:R129C	A|R	+|-	1|1	0|0	ASB16|C17orf65	39609762|39609762	1.000000|1.000000	0.71417|0.71417	0.069000|0.069000	0.20011|0.20011	0.049000|0.049000	0.14656|0.14656	9.108000|9.108000	0.94275|0.94275	2.720000|2.720000	0.93068|0.93068	0.555000|0.555000	0.69702|0.69702	GCC|CGC	G|0.984;A|0.016		0.726	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1		
ASB16	92591	hgsc.bcm.edu	37	17	42254281	42254281	+	Missense_Mutation	SNP	A	A	G	rs7212573	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr17:42254281A>G	ENST00000293414.1	+	3	829	c.745A>G	c.(745-747)Acg>Gcg	p.T249A	ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000588785.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	249				T -> A (in Ref. 1; BAB70800/BAG37167, 3; AAH75088 and 4; AAL57353). {ECO:0000305}.	intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGCGCTGAACACGGCGTGCGC	0.756													G|||	2594	0.517971	0.702	0.4424	5008	,	,		11135	0.752		0.2932	False		,,,				2504	0.3129				p.T249A		.											.	ASB16-227	0			c.A745G						.	G	ALA/THR,ARG/CYS	2530,1736		801,928,404	7.0	8.0	7.0		745,340	3.1	0.7	17	dbSNP_116	7	2387,5811		422,1543,2134	no	missense,missense	ASB16,C17orf65	NM_080863.4,NM_178542.3	58,180	1223,2471,2538	GG,GA,AA		29.1169,40.6939,39.4496	benign,benign	249/454,114/194	42254281	4917,7547	2133	4099	6232	SO:0001583	missense	92591	exon3			CTGAACACGGCGT	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.745A>G	17.37:g.42254281A>G	ENSP00000293414:p.Thr249Ala	0	0		8	6	NM_080863	0	0	0	0	0	B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	CCDS11478.1	1144|1144	0.5238095238095238|0.5238095238095238	349|349	0.709349593495935|0.709349593495935	142|142	0.39226519337016574|0.39226519337016574	420|420	0.7342657342657343|0.7342657342657343	233|233	0.3073878627968338|0.3073878627968338	G|G	5.919|5.919	0.353578|0.353578	0.11182|0.11182	0.593061|0.593061	0.291169|0.291169	ENSG00000168597|ENSG00000161664	ENST00000303061|ENST00000293414	.|T	.|0.51817	.|0.69	5.22|5.22	3.08|3.08	0.35506|0.35506	.|Ankyrin repeat-containing domain (4);	.|0.157781	.|0.56097	.|N	.|0.000038	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.04148|0.04148	-0.265|-0.265	0.58432|0.58432	P|P	8.000000000008E-6|8.000000000008E-6	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.01281	0.0|0.0	T|T	0.41502|0.41502	-0.9505|-0.9505	7|9	0.87932|0.05833	D|T	0|0.94	-9.3151|-9.3151	9.5645|9.5645	0.39389|0.39389	0.0761:0.0:0.6662:0.2577|0.0761:0.0:0.6662:0.2577	rs7212573|rs7212573	114|249	Q495Z4|Q96NS5	CQ065_HUMAN|ASB16_HUMAN	R|A	114|249	.|ENSP00000293414:T249A	ENSP00000366342:C114R|ENSP00000293414:T249A	C|T	-|+	1|1	0|0	C17orf65|ASB16	39609807|39609807	0.002000|0.002000	0.14202|0.14202	0.723000|0.723000	0.30687|0.30687	0.056000|0.056000	0.15407|0.15407	1.059000|1.059000	0.30517|0.30517	0.777000|0.777000	0.33496|0.33496	-0.227000|-0.227000	0.12334|0.12334	TGT|ACG	A|0.476;G|0.524		0.756	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1		
COG1	9382	hgsc.bcm.edu	37	17	71189428	71189428	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr17:71189428G>C	ENST00000299886.4	+	1	300	c.220G>C	c.(220-222)Gtg>Ctg	p.V74L	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	74					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CCGCTGCGCCGTGGGGCTAGT	0.731																																					p.V74L		.											.	COG1-91	0			c.G220C						.						20.0	20.0	20.0					17																	71189428		2190	4284	6474	SO:0001583	missense	9382	exon1			TGCGCCGTGGGGC		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.220G>C	17.37:g.71189428G>C	ENSP00000299886:p.Val74Leu	3	0		117	37	NM_018714	0	0	5	7	2	Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183587	0.38609	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.21361	2.01;2.02	3.89	3.89	0.44902	.	0.260739	0.38058	N	0.001823	T	0.08935	0.0221	N	0.02539	-0.55	0.25724	N	0.985344	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.003;0.002	T	0.22871	-1.0204	10	0.30854	T	0.27	-6.0226	13.1104	0.59270	0.0:0.1621:0.8379:0.0	.	74;74;74	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	L	74	ENSP00000400111:V74L;ENSP00000299886:V74L	ENSP00000299886:V74L	V	+	1	0	COG1	68701023	1.000000	0.71417	0.991000	0.47740	0.232000	0.25224	5.361000	0.66092	2.158000	0.67659	0.484000	0.47621	GTG	.		0.731	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1		
SLC9A3R1	9368	hgsc.bcm.edu	37	17	72745313	72745313	+	Missense_Mutation	SNP	C	C	G	rs35910969	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr17:72745313C>G	ENST00000262613.5	+	1	523	c.328C>G	c.(328-330)Ctg>Gtg	p.L110V	MIR3615_ENST00000581999.1_RNA|MIR3615_ENST00000585285.1_RNA	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	110			L -> V (in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cyclic AMP (cAMP) by parathyroid hormone (PTH) and inhibits phosphate transport; dbSNP:rs35910969). {ECO:0000269|PubMed:18784102}.		actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)			large_intestine(4)	4						CCGAGAGGAGCTGCTGCGCGC	0.731													C|||	30	0.00599042	0.0	0.0072	5008	,	,		11844	0.001		0.0219	False		,,,				2504	0.002				p.L110V		.											.	SLC9A3R1-90	0			c.C328G	GRCh37	CM085716	SLC9A3R1	M	rs35910969	.	C	VAL/LEU	14,3456		0,14,1721	2.0	3.0	3.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	328	1.1	1.0	17	dbSNP_126	3	137,7075		0,137,3469	yes	missense	SLC9A3R1	NM_004252.3	32	0,151,5190	GG,GC,CC		1.8996,0.4035,1.4136	benign	110/359	72745313	151,10531	1735	3606	5341	SO:0001583	missense	9368	exon1			GAGGAGCTGCTGC	AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"""			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.328C>G	17.37:g.72745313C>G	ENSP00000262613:p.Leu110Val	0	0		9	5	NM_004252	0	0	10	23	13	B3KY21|O43552|Q86WQ5	Missense_Mutation	SNP	ENST00000262613.5	37	CCDS11705.1	26	0.011904761904761904	3	0.006097560975609756	2	0.0055248618784530384	1	0.0017482517482517483	20	0.026385224274406333	C	12.92	2.081982	0.36758	0.004035	0.018996	ENSG00000109062	ENST00000262613;ENST00000413388	T	0.28255	1.62	4.45	1.11	0.20524	PDZ/DHR/GLGF (1);	1.152320	0.06231	N	0.688723	T	0.10723	0.0262	L	0.55481	1.735	0.80722	A	1	B	0.22683	0.073	B	0.26094	0.066	T	0.32188	-0.9916	9	0.18710	T	0.47	-30.0796	6.5664	0.22515	0.3542:0.5579:0.0:0.0878	rs35910969	110	O14745	NHRF1_HUMAN	V	110;60	ENSP00000262613:L110V	ENSP00000262613:L110V	L	+	1	2	SLC9A3R1	70256908	0.542000	0.26426	1.000000	0.80357	0.848000	0.48234	-0.679000	0.05203	0.432000	0.26286	0.491000	0.48974	CTG	C|0.988;G|0.012		0.731	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443671.1		
TNRC6C	57690	hgsc.bcm.edu	37	17	76100842	76100842	+	Silent	SNP	C	C	T	rs528147137		TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr17:76100842C>T	ENST00000588061.1	+	22	5716	c.4989C>T	c.(4987-4989)agC>agT	p.S1663S	TNRC6C_ENST00000301624.4_Silent_p.S1663S|TNRC6C_ENST00000544502.1_Silent_p.S1699S|TNRC6C_ENST00000335749.4_Silent_p.S1699S|TNRC6C_ENST00000541771.1_Silent_p.S1663S|TNRC6C-AS1_ENST00000589217.1_RNA|TNRC6C_ENST00000588847.1_Silent_p.S1699S			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1663	Interaction with the CCR4-NOT complex.|Silencing domain; interaction with CNOT1 and PAN3.|Sufficient for translational repression when tethered to a target mRNA.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|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)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|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 gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCCCGCCCAGCGCCGACGACA	0.701													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13942	0.0		0.0	False		,,,				2504	0.0				p.S1699S		.											.	TNRC6C-24	0			c.C5097T						.						3.0	4.0	4.0					17																	76100842		1786	3815	5601	SO:0001819	synonymous_variant	57690	exon22			GCCCAGCGCCGAC	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.4989C>T	17.37:g.76100842C>T		0	0		23	9	NM_001142640	0	0	3	3	0	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	CCDS45798.1																																																																																			.		0.701	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996	
FSCN2	25794	hgsc.bcm.edu	37	17	79504073	79504073	+	Silent	SNP	C	C	T	rs143561119	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	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		8	7	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	
UTS2R	2837	hgsc.bcm.edu	37	17	80332223	80332223	+	Missense_Mutation	SNP	C	C	G	rs41344948	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr17:80332223C>G	ENST00000313135.2	+	1	71	c.23C>G	c.(22-24)cCg>cGg	p.P8R		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	8					blood circulation (GO:0008015)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell growth (GO:0030307)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of vasoconstriction (GO:0045907)|regulation of vasodilation (GO:0042312)|response to drug (GO:0042493)|signal transduction (GO:0007165)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|urotensin II receptor activity (GO:0001604)			breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CCCGAGTCCCCGAGCAGCTTC	0.721													.|||	29	0.00579073	0.0	0.0043	5008	,	,		12181	0.001		0.0209	False		,,,				2504	0.0041				p.P8R		.											.	UTS2R-153	0			c.C23G						.	C	ARG/PRO	6,4024		0,6,2009	5.0	7.0	6.0		23	0.0	0.0	17	dbSNP_127	6	93,8081		0,93,3994	no	missense	UTS2R	NM_018949.1	103	0,99,6003	GG,GC,CC		1.1378,0.1489,0.8112	benign	8/390	80332223	99,12105	2015	4087	6102	SO:0001583	missense	2837	exon1			AGTCCCCGAGCAG	AF140631	CCDS11810.1	17q25.3	2013-04-30	2004-07-13	2004-07-13		ENSG00000181408			4468	protein-coding gene	gene with protein product		600896	"""G protein-coupled receptor 14"""	GPR14		8666380, 10499587	Standard	NM_018949		Approved		uc010wvl.2	Q9UKP6		ENST00000313135.2:c.23C>G	17.37:g.80332223C>G	ENSP00000323516:p.Pro8Arg	0	0		17	10	NM_018949	0	0	0	0	0	B2RMV8	Missense_Mutation	SNP	ENST00000313135.2	37	CCDS11810.1	21	0.009615384615384616	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	18	0.023746701846965697	C	11.31	1.599551	0.28534	0.001489	0.011378	ENSG00000181408	ENST00000313135	T	0.68765	-0.35	4.74	0.0383	0.14199	.	2.746610	0.02267	U	0.068090	T	0.26810	0.0656	N	0.08118	0	0.09310	N	1	B	0.28291	0.206	B	0.22386	0.039	T	0.28808	-1.0032	10	0.46703	T	0.11	.	1.8089	0.03087	0.1357:0.4144:0.1195:0.3304	rs41344948	8	Q9UKP6	UR2R_HUMAN	R	8	ENSP00000323516:P8R	ENSP00000323516:P8R	P	+	2	0	UTS2R	77925512	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.716000	0.04991	0.161000	0.19458	0.655000	0.94253	CCG	C|0.990;G|0.010		0.721	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443506.1	NM_018949	
POLRMT	5442	hgsc.bcm.edu	37	19	622326	622326	+	Silent	SNP	C	C	G	rs61746452	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:622326C>G	ENST00000588649.2	-	9	1758	c.1674G>C	c.(1672-1674)gcG>gcC	p.A558A	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	558					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGGCCTCGGGCGCCCCCAGCT	0.716													C|||	3	0.000599042	0.0	0.0	5008	,	,		13186	0.0		0.003	False		,,,				2504	0.0				p.A558A		.											.	POLRMT-92	0			c.G1674C						.	C		0,4018		0,0,2009	4.0	4.0	4.0		1674	-8.3	0.0	19	dbSNP_129	4	13,7979		0,13,3983	no	coding-synonymous	POLRMT	NM_005035.3		0,13,5992	GG,GC,CC		0.1627,0.0,0.1082		558/1231	622326	13,11997	2009	3996	6005	SO:0001819	synonymous_variant	5442	exon9			CTCGGGCGCCCCC		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1674G>C	19.37:g.622326C>G		0	0		42	12	NM_005035	0	0	12	12	0	O60370	Silent	SNP	ENST00000588649.2	37	CCDS12036.1																																																																																			C|0.027;G|0.973		0.716	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035	
ARID3A	1820	hgsc.bcm.edu	37	19	929753	929753	+	Silent	SNP	A	A	G	rs1799595	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:929753A>G	ENST00000263620.3	+	2	552	c.225A>G	c.(223-225)ccA>ccG	p.P75P	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	75						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		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)		TGGGACACCCAGCCAGCCCCG	0.751													t|||	4428	0.884185	0.9062	0.804	5008	,	,		8534	0.998		0.836	False		,,,				2504	0.8436				p.P75P	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.A225G						.	G		3389,305		1555,279,13	4.0	5.0	5.0		225	-6.8	0.0	19	dbSNP_89	5	6619,1123		2834,951,86	no	coding-synonymous	ARID3A	NM_005224.2		4389,1230,99	GG,GA,AA		14.5053,8.2566,12.4869		75/594	929753	10008,1428	1847	3871	5718	SO:0001819	synonymous_variant	1820	exon2			ACACCCAGCCAGC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.225A>G	19.37:g.929753A>G		0	0		4	4	NM_005224	0	0	0	2	2	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			A|0.114;G|0.886		0.751	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224	
FBN3	84467	bcgsc.ca	37	19	8176919	8176919	+	Silent	SNP	C	C	T	rs4804264	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:8176919C>T	ENST00000600128.1	-	31	4317	c.3903G>A	c.(3901-3903)ccG>ccA	p.P1301P	FBN3_ENST00000601739.1_Silent_p.P1301P|FBN3_ENST00000270509.2_Silent_p.P1301P			Q75N90	FBN3_HUMAN	fibrillin 3	1301	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGAAACTCCCCGGGATGTTGA	0.597													C|||	3452	0.689297	0.6604	0.719	5008	,	,		12420	0.7847		0.5298	False		,,,				2504	0.773				p.P1301P		.											.	FBN3-100	0			c.G3903A						.	C		2841,1565	668.8+/-402.1	923,995,285	142.0	121.0	128.0		3903	-8.7	0.1	19	dbSNP_111	128	4495,4105	591.7+/-392.9	1154,2187,959	no	coding-synonymous	FBN3	NM_032447.3		2077,3182,1244	TT,TC,CC		47.7326,35.5197,43.5953		1301/2810	8176919	7336,5670	2203	4300	6503	SO:0001819	synonymous_variant	84467	exon30			ACTCCCCGGGATG		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3903G>A	19.37:g.8176919C>T		265	3		278	9	NM_032447	0	0	0	0	0	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																			C|0.388;N|0.000		0.597	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
OR1I1	126370	bcgsc.ca	37	19	15198851	15198851	+	Silent	SNP	A	A	T	rs16980313	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:15198851A>T	ENST00000209540.2	+	1	1061	c.975A>T	c.(973-975)ccA>ccT	p.P325P		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	325						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						atcatgttccaggatcactgt	0.517													A|||	912	0.182109	0.0242	0.219	5008	,	,		21835	0.2371		0.17	False		,,,				2504	0.3252				p.P325P		.											.	OR1I1-71	0			c.A975T						.	A		203,4203	125.3+/-162.5	3,197,2003	81.0	59.0	66.0		975	-0.2	0.0	19	dbSNP_123	66	1455,7145	274.3+/-291.2	108,1239,2953	no	coding-synonymous	OR1I1	NM_001004713.1		111,1436,4956	TT,TA,AA		16.9186,4.6074,12.748		325/356	15198851	1658,11348	2203	4300	6503	SO:0001819	synonymous_variant	126370	exon1			TGTTCCAGGATCA	AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"""GPCR / Class A : Olfactory receptors"""	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.975A>T	19.37:g.15198851A>T		268	2		276	8	NM_001004713	0	0	0	0	0	Q96R92	Silent	SNP	ENST00000209540.2	37	CCDS32937.1																																																																																			A|0.868;T|0.132		0.517	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1		
OCEL1	79629	hgsc.bcm.edu	37	19	17337557	17337557	+	Missense_Mutation	SNP	G	G	T	rs10425488	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:17337557G>T	ENST00000215061.4	+	2	169	c.125G>T	c.(124-126)cGc>cTc	p.R42L	OCEL1_ENST00000601529.1_Missense_Mutation_p.R42L|OCEL1_ENST00000597836.1_5'UTR|OCEL1_ENST00000601576.1_3'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	42	Pro-rich.		R -> L (in dbSNP:rs10425488).							central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CGCAGGACCCGCCCATCAGCC	0.746													G|||	385	0.076877	0.115	0.0836	5008	,	,		10155	0.001		0.0755	False		,,,				2504	0.1002				p.R42L		.											.	OCEL1-68	0			c.G125T						.	G	LEU/ARG	300,3398		14,272,1563	4.0	6.0	6.0		125	3.0	0.1	19	dbSNP_119	6	480,6968		14,452,3258	no	missense	OCEL1	NM_024578.1	102	28,724,4821	TT,TG,GG		6.4447,8.1125,6.998	possibly-damaging	42/265	17337557	780,10366	1849	3724	5573	SO:0001583	missense	79629	exon2			GGACCCGCCCATC	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.125G>T	19.37:g.17337557G>T	ENSP00000215061:p.Arg42Leu	0	0		11	5	NM_024578	0	0	12	20	8		Missense_Mutation	SNP	ENST00000215061.4	37	CCDS12351.1	142	0.06501831501831502	54	0.10975609756097561	30	0.08287292817679558	0	0.0	58	0.07651715039577836	G	16.23	3.063736	0.55432	0.081125	0.064447	ENSG00000099330	ENST00000215061	T	0.32988	1.43	3.01	3.01	0.34805	.	0.596543	0.14714	N	0.302724	T	0.00666	0.0022	N	0.19112	0.55	0.80722	P	0.0	D	0.76494	0.999	D	0.79108	0.992	T	0.04855	-1.0922	9	0.39692	T	0.17	-18.151	6.1073	0.20081	0.1412:0.0:0.8588:0.0	rs10425488	42	Q9H607	OCEL1_HUMAN	L	42	ENSP00000215061:R42L	ENSP00000215061:R42L	R	+	2	0	OCEL1	17198557	0.003000	0.15002	0.067000	0.19924	0.403000	0.30841	0.226000	0.17776	2.001000	0.58596	0.491000	0.48974	CGC	G|0.934;T|0.066		0.746	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578	
PGLS	25796	hgsc.bcm.edu	37	19	17622614	17622614	+	Silent	SNP	C	C	T	rs11086075	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:17622614C>T	ENST00000252603.2	+	1	177	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	45					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						CGCGCTCGGCCTGTCGGGCGG	0.736													C|||	1862	0.371805	0.2496	0.4207	5008	,	,		10575	0.377		0.4851	False		,,,				2504	0.3804				p.L45L		.											.	PGLS-90	0			c.C133T						.	C		662,2504		107,448,1028	2.0	2.0	2.0		133	2.6	1.0	19	dbSNP_120	2	2200,4094		507,1186,1454	no	coding-synonymous	PGLS	NM_012088.2		614,1634,2482	TT,TC,CC		34.9539,20.9097,30.2537		45/259	17622614	2862,6598	1583	3147	4730	SO:0001819	synonymous_variant	25796	exon1			CTCGGCCTGTCGG	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.133C>T	19.37:g.17622614C>T		0	0		4	4	NM_012088	0	0	5	11	6		Silent	SNP	ENST00000252603.2	37	CCDS12361.1																																																																																			C|0.617;T|0.383		0.736	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1		
CCDC124	115098	bcgsc.ca	37	19	18047283	18047283	+	Silent	SNP	T	T	G	rs4808722	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:18047283T>G	ENST00000597436.1	+	2	161	c.54T>G	c.(52-54)cgT>cgG	p.R18R	CCDC124_ENST00000445755.2_Silent_p.R18R	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	18					cell cycle (GO:0007049)|cell division (GO:0051301)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)	3						CCCGGGCACGTAGGGCAGAGG	0.637													G|||	1841	0.367612	0.6248	0.2522	5008	,	,		15506	0.1161		0.3857	False		,,,				2504	0.3425				p.R18R		.											.	CCDC124-68	0			c.T54G						.	G	,	2554,1852		755,1044,404	40.0	38.0	39.0		54,54	2.3	1.0	19	dbSNP_111	39	3190,5408		600,1990,1709	no	coding-synonymous,coding-synonymous	CCDC124	NM_001136203.1,NM_138442.3	,	1355,3034,2113	GG,GT,TT		37.1017,42.0336,44.171	,	18/224,18/224	18047283	5744,7260	2203	4299	6502	SO:0001819	synonymous_variant	115098	exon2			GGCACGTAGGGCA	BC013949	CCDS12369.1	19p13.11	2014-02-20				ENSG00000007080			25171	protein-coding gene	gene with protein product						23894443	Standard	NM_138442		Approved		uc002nhs.3	Q96CT7		ENST00000597436.1:c.54T>G	19.37:g.18047283T>G		166	2		306	11	NM_138442	0	1	138	139	0		Silent	SNP	ENST00000597436.1	37	CCDS12369.1																																																																																			T|0.594;G|0.406		0.637	CCDC124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466484.1	NM_138442	
FAM187B	148109	bcgsc.ca	37	19	35719257	35719257	+	Silent	SNP	G	G	A	rs11673347	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:35719257G>A	ENST00000324675.3	-	1	375	c.327C>T	c.(325-327)gaC>gaT	p.D109D		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	109						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CATCCTGAAAGTCAATTTCAT	0.527													-|||	1423	0.284145	0.1346	0.3732	5008	,	,		18895	0.0357		0.5944	False		,,,				2504	0.3599				p.D109D		.											.	FAM187B-92	0			c.C327T						.	G		893,3513	344.4+/-308.1	90,713,1400	106.0	93.0	98.0		327	3.2	1.0	19	dbSNP_120	98	5135,3465	635.9+/-399.0	1542,2051,707	no	coding-synonymous	FAM187B	NM_152481.1		1632,2764,2107	AA,AG,GG		40.2907,20.2678,46.3478		109/370	35719257	6028,6978	2203	4300	6503	SO:0001819	synonymous_variant	148109	exon1			CTGAAAGTCAATT	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.327C>T	19.37:g.35719257G>A		147	0		172	6	NM_152481	0	0	0	0	0	Q8N7G6	Silent	SNP	ENST00000324675.3	37	CCDS12448.1																																																																																			G|0.613;A|0.386		0.527	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481	
SPTBN4	57731	hgsc.bcm.edu	37	19	41073913	41073913	+	Silent	SNP	G	G	C			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:41073913G>C	ENST00000352632.3	+	31	6767	c.6681G>C	c.(6679-6681)gtG>gtC	p.V2227V	SPTBN4_ENST00000598249.1_Silent_p.V2227V|SPTBN4_ENST00000392025.1_Silent_p.V970V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2227					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGGAGCAGGTGCGGCCACGAC	0.761																																					p.V2227V		.											.	SPTBN4-94	0			c.G6681C						.						4.0	5.0	4.0					19																	41073913		1804	3527	5331	SO:0001819	synonymous_variant	57731	exon31			GCAGGTGCGGCCA	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.6681G>C	19.37:g.41073913G>C		1	0		12	6	NM_020971	0	0	0	0	0	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	CCDS12559.1																																																																																			.		0.761	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2		
ZNF227	7770	bcgsc.ca	37	19	44739303	44739303	+	Silent	SNP	T	T	C	rs2279073	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:44739303T>C	ENST00000313040.7	+	6	925	c.720T>C	c.(718-720)aaT>aaC	p.N240N	ZNF227_ENST00000589005.1_Silent_p.N189N|ZNF227_ENST00000391961.2_Silent_p.N189N	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	240					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)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				ATGGCTCCAATCAGAAATTAC	0.423													T|||	2095	0.418331	0.115	0.4841	5008	,	,		18758	0.4286		0.5417	False		,,,				2504	0.6442				p.N240N		.											.	ZNF227-91	0			c.T720C						.	T		887,3519	339.4+/-305.8	108,671,1424	55.0	56.0	56.0		720	-0.8	0.0	19	dbSNP_100	56	4712,3888	603.4+/-394.7	1309,2094,897	no	coding-synonymous	ZNF227	NM_182490.1		1417,2765,2321	CC,CT,TT		45.2093,20.1316,43.0494		240/800	44739303	5599,7407	2203	4300	6503	SO:0001819	synonymous_variant	7770	exon6			CTCCAATCAGAAA	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.720T>C	19.37:g.44739303T>C		35	0		51	4	NM_182490	0	0	15	15	0	B3KRU7|B7Z5P9	Silent	SNP	ENST00000313040.7	37	CCDS12636.1																																																																																			T|0.587;C|0.413		0.423	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490	
SIX5	147912	hgsc.bcm.edu	37	19	46269148	46269148	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:46269148C>T	ENST00000317578.6	-	3	2212	c.1831G>A	c.(1831-1833)Gct>Act	p.A611T	SIX5_ENST00000560168.1_3'UTR|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	611					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		AGGGCGTGAGCCTCTGGGAGA	0.726																																					p.A611T		.											.	SIX5-91	0			c.G1831A						.						10.0	13.0	12.0					19																	46269148		2180	4277	6457	SO:0001583	missense	147912	exon3			CGTGAGCCTCTGG	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.1831G>A	19.37:g.46269148C>T	ENSP00000316842:p.Ala611Thr	1	0		24	16	NM_175875	0	0	30	50	20		Missense_Mutation	SNP	ENST00000317578.6	37	CCDS12673.1	.	.	.	.	.	.	.	.	.	.	c	3.818	-0.038394	0.07497	.	.	ENSG00000177045	ENST00000317578	D	0.91068	-2.78	3.34	-0.258	0.12975	.	2.999920	0.01431	N	0.014734	T	0.79411	0.4441	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67515	-0.5651	10	0.48119	T	0.1	-2.2107	1.8092	0.03087	0.211:0.4612:0.2055:0.1223	.	611	Q8N196	SIX5_HUMAN	T	611	ENSP00000316842:A611T	ENSP00000316842:A611T	A	-	1	0	SIX5	50960988	0.044000	0.20184	0.016000	0.15963	0.130000	0.20726	1.016000	0.29976	0.050000	0.15949	0.555000	0.69702	GCT	.		0.726	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875	
PTGIR	5739	hgsc.bcm.edu	37	19	47127324	47127324	+	Silent	SNP	C	C	G	rs2229128	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:47127324C>G	ENST00000291294.2	-	2	292	c.159G>C	c.(157-159)gtG>gtC	p.V53V	PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000596260.1_Silent_p.V53V	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		0	0		8	7	NM_000960	0	0	0	1	1		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		
ZNF787	126208	hgsc.bcm.edu	37	19	56599438	56599440	+	In_Frame_Del	DEL	TCG	TCG	-	rs5828672|rs71696054	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	TCG	TCG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	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		11	10	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	
ZNF814	730051	broad.mit.edu;bcgsc.ca	37	19	58385954	58385954	+	Silent	SNP	T	T	C	rs74179449|rs10412929	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:58385954T>C	ENST00000435989.2	-	3	1038	c.804A>G	c.(802-804)aaA>aaG	p.K268K	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	268					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.K268K(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CACATTCATGTTTTTTTTCAG	0.373													.|||	1533	0.30611	0.2753	0.3818	5008	,	,		21372	0.4385		0.2833	False		,,,				2504	0.181				p.K268K		.											.	.	1	Substitution - coding silent(1)	kidney(1)	c.A804G						.	T		343,1041		40,263,389	45.0	38.0	40.0		804	-4.3	0.0	19	dbSNP_119	40	892,2290		121,650,820	no	coding-synonymous	ZNF814	NM_001144989.1		161,913,1209	CC,CT,TT		28.0327,24.7832,27.0477		268/856	58385954	1235,3331	692	1591	2283	SO:0001819	synonymous_variant	730051	exon3			TTCATGTTTTTTT		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.804A>G	19.37:g.58385954T>C		99	1		155	7	NM_001144989	0	0	1	1	0	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																			T|0.664;C|0.336		0.373	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
FAM179A	165186	bcgsc.ca	37	2	29256374	29256374	+	Missense_Mutation	SNP	C	C	T	rs60403047	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr2:29256374C>T	ENST00000379558.4	+	16	2521	c.2170C>T	c.(2170-2172)Cgc>Tgc	p.R724C	FAM179A_ENST00000403861.2_Missense_Mutation_p.R669C|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	724			R -> C (in dbSNP:rs60403047). {ECO:0000269|PubMed:14702039}.							breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGCCAAAGGCCGCAAGGTGTT	0.512													C|||	402	0.0802716	0.0242	0.0692	5008	,	,		20339	0.1389		0.0974	False		,,,				2504	0.0859				p.R724C		.											.	FAM179A-26	0			c.C2170T						.	C	CYS/ARG	168,4238	112.1+/-150.2	3,162,2038	113.0	98.0	103.0		2170	2.7	0.7	2	dbSNP_129	103	763,7837	181.0+/-229.8	32,699,3569	yes	missense	FAM179A	NM_199280.2	180	35,861,5607	TT,TC,CC		8.8721,3.813,7.1582	benign	724/1020	29256374	931,12075	2203	4300	6503	SO:0001583	missense	165186	exon16			AAAGGCCGCAAGG	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2170C>T	2.37:g.29256374C>T	ENSP00000368876:p.Arg724Cys	117	0		78	5	NM_199280	0	0	1	1	0	Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	CCDS1769.2	205	0.09386446886446886	16	0.032520325203252036	25	0.06906077348066299	83	0.1451048951048951	81	0.10686015831134564	C	6.140	0.393956	0.11638	0.03813	0.088721	ENSG00000189350	ENST00000401723;ENST00000379558;ENST00000403861	T;T;T	0.24908	1.83;1.83;1.83	4.6	2.73	0.32206	Armadillo-type fold (1);	0.482216	0.19381	N	0.115661	T	0.00144	0.0004	M	0.69823	2.125	0.29716	P	0.839001	B;B;B	0.29037	0.231;0.002;0.231	B;B;B	0.24541	0.026;0.0;0.054	T	0.06232	-1.0838	9	0.52906	T	0.07	.	4.7427	0.13022	0.1687:0.6379:0.0:0.1934	rs60403047	669;724;22	F8W8E4;Q6ZUX3;Q6ZUX3-3	.;F179A_HUMAN;.	C	159;724;669	ENSP00000384897:R159C;ENSP00000368876:R724C;ENSP00000384699:R669C	ENSP00000368876:R724C	R	+	1	0	FAM179A	29109878	0.004000	0.15560	0.653000	0.29593	0.023000	0.10783	0.030000	0.13688	0.463000	0.27118	-0.136000	0.14681	CGC	C|0.923;T|0.077		0.512	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280	
ZNF638	27332	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	71650459	71650459	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr2:71650459C>G	ENST00000409544.1	+	22	4445	c.3815C>G	c.(3814-3816)tCg>tGg	p.S1272W	ZNF638_ENST00000264447.4_Missense_Mutation_p.S1272W|ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000409407.1_Missense_Mutation_p.S212W	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1272	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GAAACTGTTTCGGAAATATTG	0.363																																					p.S1272W		.											.	ZNF638-94	0			c.C3815G						.						50.0	52.0	51.0					2																	71650459		2201	4300	6501	SO:0001583	missense	27332	exon22			CTGTTTCGGAAAT	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3815C>G	2.37:g.71650459C>G	ENSP00000386433:p.Ser1272Trp	172	0		159	8	NM_014497	0	0	18	18	0	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059643	0.36373	.	.	ENSG00000075292	ENST00000394137;ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.36878	1.23;1.23;1.68	5.49	3.53	0.40419	.	0.630884	0.15682	N	0.249892	T	0.43765	0.1262	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.70716	0.97;0.911;0.97	T	0.37079	-0.9721	10	0.87932	D	0	-11.7252	8.4415	0.32818	0.1758:0.6546:0.1697:0.0	.	1272;1272;1272	A8K583;Q14966-3;Q14966	.;.;ZN638_HUMAN	W	851;1272;1272;212;212	ENSP00000264447:S1272W;ENSP00000386433:S1272W;ENSP00000386813:S212W	ENSP00000264447:S1272W	S	+	2	0	ZNF638	71503967	0.874000	0.30092	0.998000	0.56505	0.469000	0.32828	0.795000	0.26972	1.406000	0.46857	0.563000	0.77884	TCG	.		0.363	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
DYSF	8291	bcgsc.ca	37	2	71740958	71740958	+	Silent	SNP	T	T	C	rs35392229	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr2:71740958T>C	ENST00000258104.3	+	6	847	c.570T>C	c.(568-570)ccT>ccC	p.P190P	DYSF_ENST00000409582.3_Silent_p.P221P|DYSF_ENST00000429174.2_Silent_p.P190P|DYSF_ENST00000410041.1_Silent_p.P222P|DYSF_ENST00000413539.2_Silent_p.P221P|DYSF_ENST00000410020.3_Silent_p.P222P|DYSF_ENST00000409744.1_Silent_p.P191P|DYSF_ENST00000409762.1_Silent_p.P221P|DYSF_ENST00000409651.1_Silent_p.P222P|DYSF_ENST00000409366.1_Silent_p.P191P|DYSF_ENST00000394120.2_Silent_p.P191P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	190					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGAAACTACCTTCACGTCCTC	0.577													T|||	89	0.0177716	0.0023	0.036	5008	,	,		15621	0.0		0.0537	False		,,,				2504	0.0072				p.P222P		.											.	DYSF-158	0			c.T666C						.	T	,,,,,,,,,,,,,	27,4379	32.6+/-62.9	0,27,2176	61.0	63.0	62.0		573,570,570,570,663,663,663,666,573,573,666,573,666,570	0.7	0.6	2	dbSNP_126	62	334,8266	115.3+/-175.2	10,314,3976	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	,,,,,,,,,,,,,	10,341,6152	CC,CT,TT		3.8837,0.6128,2.7756	,,,,,,,,,,,,,	191/2082,190/2067,190/2088,190/2102,221/2112,221/2098,221/2119,222/2113,191/2103,191/2089,222/2099,191/2068,222/2120,190/2081	71740958	361,12645	2203	4300	6503	SO:0001819	synonymous_variant	8291	exon7			ACTACCTTCACGT	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.570T>C	2.37:g.71740958T>C		167	3		125	7	NM_001130982	0	0	0	0	0	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	CCDS1918.1																																																																																			T|0.971;C|0.029		0.577	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
C2orf81	388963	broad.mit.edu	37	2	74642280	74642280	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr2:74642280T>G	ENST00000517883.1	-	1	1430	c.739A>C	c.(739-741)Acc>Ccc	p.T247P	C2orf81_ENST00000290390.5_Missense_Mutation_p.T315P			A6NN90	CB081_HUMAN	chromosome 2 open reading frame 81	308										endometrium(3)|kidney(1)	4						GAGGGGCGGGTGGCGCCGCCC	0.716																																					p.T315P		.											.	.	0			c.A943C						.						7.0	10.0	9.0					2																	74642280		682	1575	2257	SO:0001583	missense	388963	exon4			GGCGGGTGGCGCC	AC005041, CH471053		2p13.1	2012-08-07			ENSG00000159239	ENSG00000159239			34350	protein-coding gene	gene with protein product						15815621	Standard	NM_001145054		Approved	LOC388963, hCG40743	uc010yrq.1	A6NN90	OTTHUMG00000164184	ENST00000517883.1:c.739A>C	2.37:g.74642280T>G	ENSP00000431103:p.Thr247Pro	34	6		72	33	NM_001145054	0	0	1	1	0		Missense_Mutation	SNP	ENST00000517883.1	37		.	.	.	.	.	.	.	.	.	.	t	12.14	1.849844	0.32699	.	.	ENSG00000159239	ENST00000517883;ENST00000290390	.	.	.	3.91	-3.99	0.04069	.	1.321610	0.05237	N	0.511487	T	0.30135	0.0755	L	0.44542	1.39	0.09310	N	1	B	0.19073	0.033	B	0.22601	0.04	T	0.39396	-0.9616	9	0.72032	D	0.01	-3.9874	1.2321	0.01946	0.1409:0.2887:0.2874:0.283	.	315	G3XAA6	.	P	247;315	.	ENSP00000290390:T315P	T	-	1	0	C2orf81	74495788	0.007000	0.16637	0.000000	0.03702	0.008000	0.06430	0.309000	0.19332	-0.435000	0.07264	0.454000	0.30748	ACC	.		0.716	C2orf81-002	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000377683.1	NM_001145054	
RGPD4	285190	broad.mit.edu	37	2	108496435	108496435	+	Missense_Mutation	SNP	T	T	A	rs832352	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr2:108496435T>A	ENST00000408999.3	+	21	5013	c.4936T>A	c.(4936-4938)Tgg>Agg	p.W1646R	RGPD4_ENST00000354986.4_Missense_Mutation_p.W1646R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1646					protein targeting to Golgi (GO:0000042)			p.W1646R(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCCTCCATTATGGCATGCTGA	0.358													t|||	2779	0.554912	0.5204	0.4914	5008	,	,		18442	0.3472		0.7008	False		,,,				2504	0.7106				p.W1646R		.											.	RGPD4-2	1	Substitution - Missense(1)	kidney(1)	c.T4936A						.						42.0	36.0	38.0					2																	108496435		692	1578	2270	SO:0001583	missense	285190	exon21			CCATTATGGCATG	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4936T>A	2.37:g.108496435T>A	ENSP00000386810:p.Trp1646Arg	242	0		208	5	NM_182588	0	0	2	2	0	B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	CCDS46381.1	1139	0.5215201465201466	247	0.5020325203252033	187	0.5165745856353591	197	0.34440559440559443	508	0.6701846965699209	t	10.26	1.301807	0.23736	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.42513	0.97;0.97	0.854	0.854	0.19007	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.36921	P	0.10862300000000003	D	0.64830	0.994	D	0.67725	0.953	T	0.35176	-0.9799	8	0.21540	T	0.41	-0.4067	7.1387	0.25543	0.0:0.0:0.0:1.0	rs832352;rs3820958	1646	Q7Z3J3	RGPD4_HUMAN	R	1646;1646;1013	ENSP00000347081:W1646R;ENSP00000386810:W1646R	ENSP00000347081:W1646R	W	+	1	0	RGPD4	107862867	1.000000	0.71417	0.997000	0.53966	0.893000	0.52053	3.939000	0.56591	0.641000	0.30601	0.327000	0.21459	TGG	T|0.295;A|0.705		0.358	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581	
ESPNL	339768	hgsc.bcm.edu	37	2	239009336	239009336	+	Silent	SNP	G	G	A	rs61744770	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr2:239009336G>A	ENST00000343063.3	+	1	539	c.276G>A	c.(274-276)gaG>gaA	p.E92E	ESPNL_ENST00000409169.1_Silent_p.E92E	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	92										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGGTCCGCGAGGGGGGCTGCG	0.721													G|||	1076	0.214856	0.0325	0.3012	5008	,	,		12159	0.1359		0.4761	False		,,,				2504	0.2127				p.E92E		.											.	ESPNL-69	0			c.G276A						.	G		217,3027		15,187,1420	2.0	3.0	3.0		276	-8.2	0.0	2	dbSNP_129	3	2420,4680		417,1586,1547	no	coding-synonymous	ESPNL	NM_194312.2		432,1773,2967	AA,AG,GG		34.0845,6.6893,25.493		92/1006	239009336	2637,7707	1622	3550	5172	SO:0001819	synonymous_variant	339768	exon1			CCGCGAGGGGGGC	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.276G>A	2.37:g.239009336G>A		0	0		7	7	NM_194312	0	0	0	0	0	Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	37	CCDS2525.1																																																																																			G|0.739;A|0.261		0.721	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312	
ZCCHC3	85364	hgsc.bcm.edu	37	20	278515	278515	+	Silent	SNP	T	T	C	rs2223665	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr20:278515T>C	ENST00000382352.3	+	1	779	c.288T>C	c.(286-288)gaT>gaC	p.D96D		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	96							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCCGCGGGGATCCGAAGGGCC	0.776													C|||	2949	0.588858	0.6974	0.6643	5008	,	,		6571	0.375		0.6064	False		,,,				2504	0.591				p.D96D		.											.	ZCCHC3-90	0			c.T288C						.						1.0	1.0	1.0					20																	278515		303	859	1162	SO:0001819	synonymous_variant	85364	exon1			CGGGGATCCGAAG	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.288T>C	20.37:g.278515T>C		0	0		7	7	NM_033089	0	0	0	1	1	Q3B7J3|Q6NT79	Silent	SNP	ENST00000382352.3	37	CCDS42844.1																																																																																			T|0.454;C|0.546		0.776	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1		
COX4I2	84701	bcgsc.ca	37	20	30232673	30232673	+	Missense_Mutation	SNP	G	G	A	rs11907253	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr20:30232673G>A	ENST00000376075.3	+	5	557	c.482G>A	c.(481-483)cGc>cAc	p.R161H		NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	161			R -> H (in dbSNP:rs11907253). {ECO:0000269|PubMed:11311561}.		cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CTGGCCTCCCGCTGGGACTAT	0.627													G|||	287	0.0573083	0.0961	0.0764	5008	,	,		16625	0.001		0.0815	False		,,,				2504	0.0245				p.R161H		.											.	COX4I2-227	0			c.G482A						.	G	HIS/ARG	411,3995	201.1+/-224.2	12,387,1804	73.0	64.0	67.0		482	-1.1	0.6	20	dbSNP_120	67	702,7898	172.9+/-223.5	33,636,3631	yes	missense	COX4I2	NM_032609.2	29	45,1023,5435	AA,AG,GG		8.1628,9.3282,8.5576	benign	161/172	30232673	1113,11893	2203	4300	6503	SO:0001583	missense	84701	exon5			CCTCCCGCTGGGA	AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"""Mitochondrial respiratory chain complex / Complex IV"""	16232	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit IV-like 2"""	607976	"""cytochrome c oxidase subunit IV isoform 2"""	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.482G>A	20.37:g.30232673G>A	ENSP00000365243:p.Arg161His	171	3		176	8	NM_032609	0	0	7	7	0	Q6GTF4|Q9H0Z4	Missense_Mutation	SNP	ENST00000376075.3	37	CCDS13187.1	164	0.07509157509157509	55	0.11178861788617886	41	0.1132596685082873	1	0.0017482517482517483	67	0.08839050131926121	G	11.36	1.615359	0.28801	0.093282	0.081628	ENSG00000131055	ENST00000376075	T	0.55930	0.49	4.38	-1.06	0.10002	.	0.324544	0.28442	N	0.015337	T	0.00412	0.0013	N	0.02916	-0.46	0.39291	P	0.035267999999999966	B	0.06786	0.001	B	0.04013	0.001	T	0.06127	-1.0844	9	0.35671	T	0.21	-17.387	7.746	0.28869	0.4725:0.0:0.5275:0.0	rs11907253;rs57114915;rs11907253	161	Q96KJ9	COX42_HUMAN	H	161	ENSP00000365243:R161H	ENSP00000365243:R161H	R	+	2	0	COX4I2	29696334	0.997000	0.39634	0.583000	0.28640	0.836000	0.47400	1.246000	0.32803	-0.361000	0.08125	-1.305000	0.01319	CGC	G|0.919;A|0.081		0.627	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	NM_032609	
DIDO1	11083	hgsc.bcm.edu	37	20	61510599	61510599	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr20:61510599C>T	ENST00000266070.4	-	16	7034	c.6709G>A	c.(6709-6711)Gcc>Acc	p.A2237T	DIDO1_ENST00000395343.1_Missense_Mutation_p.A2237T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2237					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCCTGCGAGGCGGTGCCAGCG	0.627																																					p.A2237T	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	.											.	DIDO1-96	0			c.G6709A						.						7.0	6.0	6.0					20																	61510599		2122	4168	6290	SO:0001583	missense	11083	exon16			GCGAGGCGGTGCC	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6709G>A	20.37:g.61510599C>T	ENSP00000266070:p.Ala2237Thr	3	0		33	14	NM_001193369	0	0	1	2	1	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	9.967	1.224295	0.22457	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08984	3.03;3.03	4.37	0.911	0.19343	.	.	.	.	.	T	0.05044	0.0135	L	0.29908	0.895	0.18873	N	0.999988	B	0.24533	0.105	B	0.12837	0.008	T	0.40683	-0.9550	9	0.45353	T	0.12	2.5534	0.8114	0.01094	0.1821:0.39:0.202:0.226	.	2237	Q9BTC0	DIDO1_HUMAN	T	2237	ENSP00000266070:A2237T;ENSP00000378752:A2237T	ENSP00000266070:A2237T	A	-	1	0	DIDO1	60981044	0.001000	0.12720	0.005000	0.12908	0.007000	0.05969	-0.192000	0.09587	0.502000	0.28037	0.467000	0.42956	GCC	.		0.627	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
SCARF2	91179	hgsc.bcm.edu	37	22	20780296	20780296	+	Missense_Mutation	SNP	G	G	A	rs9680797	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr22:20780296G>A	ENST00000266214.5	-	11	2086	c.1982C>T	c.(1981-1983)cCa>cTa	p.P661L	SCARF2_ENST00000405555.3_Missense_Mutation_p.P656L	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	661	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GGGGTCAGGTGGCGGCGGTTT	0.756													g|||	68	0.0135783	0.0008	0.0303	5008	,	,		7971	0.0		0.0398	False		,,,				2504	0.0061				p.P661L		.											.	SCARF2-341	0			c.C1982T						.		LEU/PRO,LEU/PRO	27,4371		0,27,2172	16.0	20.0	19.0		1982,1967	3.4	0.9	22	dbSNP_119	19	316,8274		10,296,3989	yes	missense,missense	SCARF2	NM_153334.4,NM_182895.2	98,98	10,323,6161	AA,AG,GG		3.6787,0.6139,2.6409	probably-damaging,probably-damaging	661/871,656/866	20780296	343,12645	2199	4295	6494	SO:0001583	missense	91179	exon11			TCAGGTGGCGGCG	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.1982C>T	22.37:g.20780296G>A	ENSP00000266214:p.Pro661Leu	0	0		20	19	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	ENST00000266214.5	37	CCDS13779.1	43	0.019688644688644688	4	0.008130081300813009	9	0.024861878453038673	0	0.0	30	0.0395778364116095	g	15.57	2.873045	0.51695	0.006139	0.036787	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.22539	2.01;1.95	3.38	3.38	0.38709	.	0.084416	0.47093	U	0.000259	T	0.07458	0.0188	L	0.29908	0.895	0.49299	D	0.999771	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.01405	-1.1363	10	0.11485	T	0.65	.	12.6984	0.57018	0.0:0.0:1.0:0.0	rs9680797	656;656	E5RFB8;Q96GP6	.;SREC2_HUMAN	L	656;656;661	ENSP00000385589:P656L;ENSP00000266214:P661L	ENSP00000266214:P661L	P	-	2	0	SCARF2	19110296	1.000000	0.71417	0.865000	0.33974	0.132000	0.20833	8.286000	0.89916	1.917000	0.55516	0.441000	0.28932	CCA	G|0.977;A|0.023		0.756	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1		
FANCD2	2177	ucsc.edu	37	3	10108898	10108898	+	Silent	SNP	A	A	G	rs77246387		TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr3:10108898A>G	ENST00000419585.1	+	26	2552	c.2391A>G	c.(2389-2391)gtA>gtG	p.V797V	FANCD2_ENST00000383806.1_Silent_p.V797V|FANCD2_ENST00000383807.1_Silent_p.V797V|FANCD2_ENST00000287647.3_Silent_p.V797V			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	797					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.V797V(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGCAGATTGTAAATGCCTTCT	0.368			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.V797V		.	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	.	FANCD2-229	1	Substitution - coding silent(1)	prostate(1)	c.A2391G						.						72.0	63.0	66.0					3																	10108898		2203	4300	6503	SO:0001819	synonymous_variant	2177	exon26	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	GATTGTAAATGCC	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2391A>G	3.37:g.10108898A>G		75	2		83	8	NM_001018115	0	0	0	0	0	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	CCDS33696.1																																																																																			A|0.909;G|0.091		0.368	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
VILL	50853	bcgsc.ca	37	3	38038982	38038982	+	Silent	SNP	T	T	C	rs6809649	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr3:38038982T>C	ENST00000283713.6	+	7	836	c.570T>C	c.(568-570)gcT>gcC	p.A190A	VILL_ENST00000383759.2_Silent_p.A190A|VILL_ENST00000465644.1_Intron			O15195	VILL_HUMAN	villin-like	190					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGGGGCTGGCTTTGACCTACA	0.607													C|||	1182	0.236022	0.4304	0.1398	5008	,	,		18461	0.0863		0.1441	False		,,,				2504	0.2904				p.A190A		.											.	VILL-90	0			c.T570C						.	C		1760,2646	641.1+/-397.4	346,1068,789	62.0	61.0	61.0		570	3.5	0.7	3	dbSNP_116	61	1488,7112	747.8+/-407.3	125,1238,2937	no	coding-synonymous	VILL	NM_015873.3		471,2306,3726	CC,CT,TT		17.3023,39.9455,24.9731		190/857	38038982	3248,9758	2203	4300	6503	SO:0001819	synonymous_variant	50853	exon6			GCTGGCTTTGACC		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.570T>C	3.37:g.38038982T>C		113	0		119	5	NM_015873	0	0	0	0	0	A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	CCDS2670.2																																																																																			T|0.768;C|0.232		0.607	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873	
COL6A6	131873	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	130361853	130361853	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr3:130361853T>A	ENST00000358511.6	+	30	5244	c.5213T>A	c.(5212-5214)gTg>gAg	p.V1738E	COL6A6_ENST00000453409.2_Missense_Mutation_p.V1738E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1738	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATTCAGTATGTGCGAGACCGC	0.378																																					p.V1738E		.											.	COL6A6-76	0			c.T5213A						.						122.0	106.0	111.0					3																	130361853		1878	4114	5992	SO:0001583	missense	131873	exon30			AGTATGTGCGAGA	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5213T>A	3.37:g.130361853T>A	ENSP00000351310:p.Val1738Glu	106	0		111	39	NM_001102608	0	0	0	0	0	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.065102	0.76187	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.90324	-2.63;-2.65	5.77	5.77	0.91146	.	.	.	.	.	D	0.91646	0.7360	L	0.42245	1.32	0.37589	D	0.92012	D	0.89917	1.0	D	0.71870	0.975	D	0.90529	0.4494	9	0.25106	T	0.35	.	9.8229	0.40894	0.0:0.0786:0.0:0.9214	.	1738	A6NMZ7	CO6A6_HUMAN	E	1738	ENSP00000351310:V1738E;ENSP00000399236:V1738E	ENSP00000351310:V1738E	V	+	2	0	COL6A6	131844543	0.999000	0.42202	1.000000	0.80357	0.963000	0.63663	2.734000	0.47368	2.200000	0.70718	0.459000	0.35465	GTG	.		0.378	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
TSC22D2	9819	hgsc.bcm.edu	37	3	150128392	150128392	+	Missense_Mutation	SNP	G	G	A	rs879634	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr3:150128392G>A	ENST00000361875.3	+	1	2271	c.1255G>A	c.(1255-1257)Gct>Act	p.A419T	TSC22D2_ENST00000361136.2_Missense_Mutation_p.A419T	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	419			A -> T (in dbSNP:rs879634).		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)			CGGCCAGAATGCTTCCTCGGT	0.771													G|||	952	0.190096	0.2224	0.1657	5008	,	,		13018	0.0407		0.2724	False		,,,				2504	0.2331				p.A419T		.											.	TSC22D2-91	0			c.G1255A						.	G	THR/ALA	435,2751		29,377,1187	2.0	3.0	3.0		1255	1.5	0.0	3	dbSNP_86	3	1458,5444		170,1118,2163	yes	missense	TSC22D2	NM_014779.2	58	199,1495,3350	AA,AG,GG		21.1243,13.6535,18.7649	benign	419/781	150128392	1893,8195	1593	3451	5044	SO:0001583	missense	9819	exon1			CAGAATGCTTCCT	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.1255G>A	3.37:g.150128392G>A	ENSP00000354543:p.Ala419Thr	0	0		17	9	NM_014779	0	0	1	1	0	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	433	0.19826007326007325	126	0.25609756097560976	72	0.19889502762430938	23	0.04020979020979021	212	0.2796833773087071	G	1.438	-0.568481	0.03910	0.136535	0.211243	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.30182	1.54;1.54	3.57	1.47	0.22746	.	0.687211	0.12935	N	0.427041	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.002	T	0.33599	-0.9862	9	0.51188	T	0.08	.	6.993	0.24765	0.0:0.4503:0.379:0.1707	rs879634;rs3749399;rs58335631	419;419	O75157-2;O75157	.;T22D2_HUMAN	T	419	ENSP00000354543:A419T;ENSP00000354893:A419T	ENSP00000354893:A419T	A	+	1	0	TSC22D2	151611082	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.305000	0.19254	0.805000	0.34159	0.557000	0.71058	GCT	G|0.797;A|0.203		0.771	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779	
OTOP1	133060	hgsc.bcm.edu	37	4	4228472	4228472	+	Silent	SNP	T	T	C	rs76810534		TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	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		1	0		35	8	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	
ZAR1	326340	hgsc.bcm.edu	37	4	48492434	48492434	+	Missense_Mutation	SNP	G	G	C	rs10008444	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	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	1	0		10	10	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		
DSPP	1834	bcgsc.ca	37	4	88536520	88536520	+	Silent	SNP	T	T	C	rs62651554	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr4:88536520T>C	ENST00000282478.7	+	4	2739	c.2706T>C	c.(2704-2706)gaT>gaC	p.D902D	DSPP_ENST00000399271.1_Silent_p.D902D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	902	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagtgatagtgacagca	0.478													t|||	1630	0.325479	0.2352	0.4179	5008	,	,		33602	0.2867		0.3519	False		,,,				2504	0.3947				p.D902D		.											.	DSPP-90	0			c.T2706C						.			883,2419		145,593,913	82.0	96.0	91.0		2706	-0.5	0.0	4	dbSNP_132	91	2213,3715		456,1301,1207	no	coding-synonymous	DSPP	NM_014208.3		601,1894,2120	CC,CT,TT		37.3313,26.7414,33.5428		902/1302	88536520	3096,6134	1651	2964	4615	SO:0001819	synonymous_variant	1834	exon5			CAGTGATAGTGAC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2706T>C	4.37:g.88536520T>C		873	15		928	24	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			T|0.673;C|0.327		0.478	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
FRG1	2483	bcgsc.ca	37	4	190878626	190878626	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr4:190878626G>A	ENST00000226798.4	+	6	728	c.506G>A	c.(505-507)aGt>aAt	p.S169N	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	169					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.S169N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GAAGCAAAAAGTAAAACAGCA	0.363																																					p.S169N		.											.	FRG1-90	1	Substitution - Missense(1)	skin(1)	c.G506A						.						49.0	46.0	47.0					4																	190878626		2184	4282	6466	SO:0001583	missense	2483	exon6			CAAAAAGTAAAAC	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.506G>A	4.37:g.190878626G>A	ENSP00000226798:p.Ser169Asn	582	11		537	18	NM_004477	0	0	150	150	0	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	14.80	2.642895	0.47153	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	T;T	0.48522	1.77;0.81	4.19	2.41	0.29592	Actin cross-linking (1);	0.160510	0.64402	N	0.000002	T	0.36552	0.0971	N	0.17723	0.515	0.45777	D	0.998661	P	0.35982	0.531	P	0.45406	0.479	T	0.07578	-1.0765	10	0.30854	T	0.27	0.1847	7.6816	0.28518	0.219:0.0:0.781:0.0	.	169	Q14331	FRG1_HUMAN	N	169;41;106	ENSP00000226798:S169N;ENSP00000435943:S106N	ENSP00000226798:S169N	S	+	2	0	FRG1	191115620	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	1.784000	0.38674	0.340000	0.23745	0.454000	0.30748	AGT	G|0.500;A|0.500		0.363	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	
SREK1IP1	285672	ucsc.edu	37	5	64023981	64023981	+	Silent	SNP	C	C	T	rs275819	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr5:64023981C>T	ENST00000513458.4	-	4	398	c.231G>A	c.(229-231)aaG>aaA	p.K77K		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	77	Lys-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						ttttttctttcttcttttcct	0.279													T|||	3237	0.646366	0.9259	0.5865	5008	,	,		11938	0.5288		0.5288	False		,,,				2504	0.5532				p.K77K		.											.	SREK1IP1-23	0			c.G231A						.	T		3761,547		1670,421,63	18.0	21.0	20.0		231	2.2	1.0	5	dbSNP_79	20	4331,4133		1170,1991,1071	no	coding-synonymous	SREK1IP1	NM_173829.3		2840,2412,1134	TT,TC,CC		48.8303,12.6973,36.6427		77/156	64023981	8092,4680	2154	4232	6386	SO:0001819	synonymous_variant	285672	exon4			TTCTTTCTTCTTT	AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"""p18 splicing regulatory protein"""		"""SFRS12-interacting protein 1"""	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.231G>A	5.37:g.64023981C>T		15	0		24	6	NM_173829	0	0	8	16	8	Q32NC8	Silent	SNP	ENST00000513458.4	37	CCDS34171.1																																																																																			T|0.623;C|0.377		0.279	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368457.4	NM_173829	
ABLIM3	22885	broad.mit.edu	37	5	148637920	148637920	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr5:148637920G>T	ENST00000506113.1	+	23	2487	c.2005G>T	c.(2005-2007)Gcc>Tcc	p.A669S	ABLIM3_ENST00000517451.1_Missense_Mutation_p.A155S|ABLIM3_ENST00000508983.1_Missense_Mutation_p.A636S|ABLIM3_ENST00000356541.3_Intron|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.A574S|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000309868.7_Missense_Mutation_p.A669S			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	669	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.A669S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCGGCTGGCCCTCTGGAA	0.502																																					p.A669S		.											.	ABLIM3-93	2	Substitution - Missense(2)	endometrium(2)	c.G2005T						.						58.0	57.0	57.0					5																	148637920		2203	4300	6503	SO:0001583	missense	22885	exon24			CGGCTGGCCCTCT	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.2005G>T	5.37:g.148637920G>T	ENSP00000425394:p.Ala669Ser	51	1		52	4	NM_014945	0	0	3	3	0	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329622	0.95733	.	.	ENSG00000173210	ENST00000326685;ENST00000309868;ENST00000506113;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T	0.56444	0.46;0.51;0.51;0.52;0.88	5.86	5.86	0.93980	Villin headpiece (5);	0.000000	0.85682	D	0.000000	T	0.63733	0.2536	N	0.25890	0.77	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.997;0.987;0.999	T	0.62779	-0.6782	10	0.46703	T	0.11	.	20.1802	0.98196	0.0:0.0:1.0:0.0	.	155;574;669	O94929-4;O94929-3;O94929	.;.;ABLM3_HUMAN	S	574;669;669;636;155;154	ENSP00000315841:A574S;ENSP00000310309:A669S;ENSP00000425394:A669S;ENSP00000420855:A636S;ENSP00000430150:A155S	ENSP00000310309:A669S	A	+	1	0	ABLIM3	148618113	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.859000	0.99545	2.783000	0.95769	0.542000	0.68232	GCC	.		0.502	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945	
CDHR2	54825	bcgsc.ca	37	5	176011889	176011889	+	Silent	SNP	G	G	A	rs4868660	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr5:176011889G>A	ENST00000510636.1	+	19	2881	c.2607G>A	c.(2605-2607)gcG>gcA	p.A869A	CDHR2_ENST00000506348.1_Silent_p.A869A|CDHR2_ENST00000261944.5_Silent_p.A869A	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	869	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCTCAGTGGCGGCCAACGGCT	0.607													G|||	1023	0.204273	0.1021	0.402	5008	,	,		19243	0.0278		0.4145	False		,,,				2504	0.1677				p.A869A		.											.	CDHR2-70	0			c.G2607A						.	G	,	707,3699	291.3+/-281.4	53,601,1549	64.0	53.0	57.0		2607,2607	-1.2	0.0	5	dbSNP_111	57	3675,4925	519.3+/-379.4	779,2117,1404	no	coding-synonymous,coding-synonymous	CDHR2	NM_001171976.1,NM_017675.4	,	832,2718,2953	AA,AG,GG		42.7326,16.0463,33.6921	,	869/1311,869/1311	176011889	4382,8624	2203	4300	6503	SO:0001819	synonymous_variant	54825	exon19			AGTGGCGGCCAAC	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2607G>A	5.37:g.176011889G>A		187	2		229	11	NM_017675	0	0	2	2	0	A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	CCDS34297.1																																																																																			G|0.726;A|0.274		0.607	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675	
HUS1B	135458	hgsc.bcm.edu	37	6	656555	656555	+	Missense_Mutation	SNP	G	G	T	rs1766848	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr6:656555G>T	ENST00000380907.2	-	1	408	c.390C>A	c.(388-390)caC>caA	p.H130Q	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	130			H -> Q (in dbSNP:rs1766848).		DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CGGGCAGATCGTGCACCACGC	0.731													G|||	327	0.0652955	0.0121	0.1297	5008	,	,		14786	0.0694		0.0964	False		,,,				2504	0.0552				p.H130Q		.											.	HUS1B-227	0			c.C390A						.	G	,GLN/HIS	83,4301		0,83,2109	17.0	21.0	20.0		,390	-2.9	0.0	6	dbSNP_89	20	799,7759		33,733,3513	yes	intron,missense	EXOC2,HUS1B	NM_018303.4,NM_148959.3	,24	33,816,5622	TT,TG,GG		9.3363,1.8932,6.815	,possibly-damaging	,130/279	656555	882,12060	2192	4279	6471	SO:0001583	missense	135458	exon1			CAGATCGTGCACC	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"""HUS1 (S. pombe) checkpoint homolog b"""			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.390C>A	6.37:g.656555G>T	ENSP00000370293:p.His130Gln	0	0		10	6	NM_148959	0	0	0	0	0	Q5T4Z2	Missense_Mutation	SNP	ENST00000380907.2	37	CCDS4470.1	135	0.061813186813186816	10	0.02032520325203252	29	0.08011049723756906	26	0.045454545454545456	70	0.09234828496042216	G	13.85	2.361073	0.41801	0.018932	0.093363	ENSG00000188996	ENST00000380907	T	0.11821	2.74	3.44	-2.93	0.05598	.	0.000000	0.85682	U	0.000000	T	0.09862	0.0242	M	0.62154	1.92	0.46028	P	0.0011719999999999509	D	0.76494	0.999	D	0.74023	0.982	T	0.23048	-1.0199	9	0.06365	T	0.9	.	8.8272	0.35063	0.6959:0.0:0.3041:0.0	rs1766848;rs17236996;rs61178836;rs1766848	130	Q8NHY5	HUS1B_HUMAN	Q	130	ENSP00000370293:H130Q	ENSP00000370293:H130Q	H	-	3	2	HUS1B	601555	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	-0.096000	0.11059	-0.638000	0.05509	-0.258000	0.10820	CAC	G|0.938;T|0.062		0.731	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959	
PPP1R3G	648791	hgsc.bcm.edu	37	6	5086211	5086211	+	Silent	SNP	G	G	C	rs584962		TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr6:5086211G>C	ENST00000405617.2	+	1	492	c.492G>C	c.(490-492)ctG>ctC	p.L164L		NM_001145115.1	NP_001138587.1	B7ZBB8	PP13G_HUMAN	protein phosphatase 1, regulatory subunit 3G	164					glucose homeostasis (GO:0042593)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)	cytoplasm (GO:0005737)	glycogen binding (GO:2001069)			kidney(2)	2						TCTCGCGCCTGCGAAGCTTCC	0.736													C|||	5008	1.0	1.0	1.0	5008	,	,		12118	1.0		1.0	False		,,,				2504	1.0				p.L164L		.											.	PPP1R3G-136	0			c.G492C						.						1.0	2.0	1.0					6																	5086211		271	872	1143	SO:0001819	synonymous_variant	648791	exon1			GCGCCTGCGAAGC		CCDS47366.1	6p25.1	2012-04-17	2011-10-04		ENSG00000219607	ENSG00000219607		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14945	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3G"""			11948623	Standard	NM_001145115		Approved		uc011dia.1	B7ZBB8	OTTHUMG00000014172	ENST00000405617.2:c.492G>C	6.37:g.5086211G>C		0	0		4	4	NM_001145115	0	0	0	5	5		Silent	SNP	ENST00000405617.2	37	CCDS47366.1																																																																																			G|0.000;C|1.000		0.736	PPP1R3G-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039740.3	NM_001145115	
OR2J3	442186	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	29079940	29079940	+	Silent	SNP	G	G	A			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr6:29079940G>A	ENST00000377169.1	+	1	273	c.273G>A	c.(271-273)ccG>ccA	p.P91P		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P91P(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TCTGGGGCCCGGAAAAGACCA	0.483																																					p.P91P		.											.	OR2J3-90	1	Substitution - coding silent(1)	large_intestine(1)	c.G273A						.						189.0	196.0	194.0					6																	29079940		1251	2558	3809	SO:0001819	synonymous_variant	442186	exon1			GGGCCCGGAAAAG		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.273G>A	6.37:g.29079940G>A		175	0		130	12	NM_001005216	0	0	0	0	0	B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Silent	SNP	ENST00000377169.1	37	CCDS43433.1																																																																																			.		0.483	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2		
TMEM30A	55754	bcgsc.ca	37	6	75994151	75994151	+	Silent	SNP	A	A	G	rs240374	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr6:75994151A>G	ENST00000230461.6	-	1	533	c.204T>C	c.(202-204)atT>atC	p.I68I	RP1-234P15.4_ENST00000607221.1_lincRNA|TMEM30A_ENST00000475111.2_Silent_p.I68I	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	68					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGGTGACAAAAATGCCAATGC	0.582													G|||	749	0.149561	0.3502	0.0937	5008	,	,		16318	0.1062		0.0835	False		,,,				2504	0.0307				p.I68I		.											.	TMEM30A-90	0			c.T204C						.	G	,	1503,2903	674.8+/-403.0	255,993,955	77.0	65.0	69.0		204,204	2.1	1.0	6	dbSNP_79	69	760,7840	785.0+/-407.6	32,696,3572	no	coding-synonymous,coding-synonymous	TMEM30A	NM_001143958.1,NM_018247.3	,	287,1689,4527	GG,GA,AA		8.8372,34.1126,17.3997	,	68/326,68/362	75994151	2263,10743	2203	4300	6503	SO:0001819	synonymous_variant	55754	exon1			GACAAAAATGCCA	AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"""chromosome 6 open reading frame 67"""	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.204T>C	6.37:g.75994151A>G		145	0		92	5	NM_001143958	0	0	30	30	0	A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Silent	SNP	ENST00000230461.6	37	CCDS4983.1																																																																																			A|0.828;G|0.172		0.582	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247	
USP42	84132	hgsc.bcm.edu	37	7	6193464	6193464	+	Missense_Mutation	SNP	T	T	G	rs61732616	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr7:6193464T>G	ENST00000306177.5	+	15	2437	c.2279T>G	c.(2278-2280)cTg>cGg	p.L760R		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	760	Pro-rich.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GCCGAATCCCTGGAGGAGCCA	0.716													T|||	1387	0.276957	0.4236	0.1686	5008	,	,		9831	0.4355		0.0895	False		,,,				2504	0.1851				p.L760R		.											.	USP42-659	0			c.T2279G						.	T	ARG/LEU	589,2085		43,503,791	2.0	4.0	3.0		2279	-10.9	0.0	7	dbSNP_129	3	319,6253		13,293,2980	no	missense	USP42	NM_032172.2	102	56,796,3771	GG,GT,TT		4.8539,22.0269,9.8205	benign	760/1317	6193464	908,8338	1337	3286	4623	SO:0001583	missense	84132	exon15			AATCCCTGGAGGA	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.2279T>G	7.37:g.6193464T>G	ENSP00000301962:p.Leu760Arg	2	0		26	9	NM_032172	0	0	2	4	2	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	CCDS47535.1	594	0.27197802197802196	198	0.4024390243902439	47	0.1298342541436464	276	0.4825174825174825	73	0.09630606860158311	T	5.448	0.267700	0.10294	0.220269	0.048539	ENSG00000106346	ENST00000306177;ENST00000426246	T;T	0.52983	0.64;0.64	5.46	-10.9	0.00192	.	3.729060	0.00447	N	0.000090	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.17961	-1.0352	9	0.10111	T	0.7	.	1.9113	0.03287	0.4032:0.2739:0.0844:0.2385	rs61732616	723;760;760	A4D2N7;Q9H9J4-2;Q9H9J4	.;.;UBP42_HUMAN	R	760;606	ENSP00000301962:L760R;ENSP00000408217:L606R	ENSP00000301962:L760R	L	+	2	0	USP42	6159990	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.066000	0.03454	-2.404000	0.00576	-1.216000	0.01612	CTG	T|0.731;G|0.269		0.716	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526	
GARS	2617	hgsc.bcm.edu	37	7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	rs1049402	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000581665.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5.0	8.0	7.0		124	-6.6	0.0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	0	0		14	14	NM_002047	0	0	0	12	12	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	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	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047	
NPSR1	387129	bcgsc.ca;mdanderson.org	37	7	34819182	34819182	+	Intron	SNP	C	C	A			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr7:34819182C>A	ENST00000360581.1	+	3	512				NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381553.3_Missense_Mutation_p.Q138K|NPSR1_ENST00000381539.3_Intron	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	attccatattcagaaaatgaa	0.269																																					.		.											.	.	0			.						.																																			SO:0001627	intron_variant	404744	.			CATATTCAGAAAA	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.384+1005C>A	7.37:g.34819182C>A		120	0		152	38	.	0	0	0	0	0	A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	RNA	SNP	ENST00000360581.1	37	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	C	9.360	1.067729	0.20067	.	.	ENSG00000187258	ENST00000381553	T	0.27890	1.64	3.02	-0.105	0.13601	.	.	.	.	.	T	0.29556	0.0737	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.31833	-0.9929	6	0.87932	D	0	.	5.3775	0.16174	0.0:0.5434:0.0:0.4566	.	.	.	.	K	138	ENSP00000370965:Q138K	ENSP00000370965:Q138K	Q	+	1	0	NPSR1	34785707	0.001000	0.12720	0.014000	0.15608	0.169000	0.22640	-0.072000	0.11486	-0.038000	0.13624	-0.355000	0.07637	CAG	.		0.269	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173	
MYO1G	64005	bcgsc.ca	37	7	45004063	45004063	+	Missense_Mutation	SNP	T	T	C	rs7792760	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr7:45004063T>C	ENST00000258787.7	-	19	2718	c.2582A>G	c.(2581-2583)cAg>cGg	p.Q861R		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	861	Myosin tail. {ECO:0000255}.		Q -> R (in dbSNP:rs7792760). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.			extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						ATCTTTGTCCTGAAGTGTCTT	0.542													C|||	4515	0.901558	0.9841	0.8588	5008	,	,		18064	0.8938		0.8489	False		,,,				2504	0.8824				p.Q861R		.											.	MYO1G-137	0			c.A2582G						.	C	ARG/GLN	4245,161	109.1+/-147.4	2044,157,2	96.0	92.0	93.0		2582	-0.4	0.0	7	dbSNP_116	93	7240,1360	266.1+/-286.5	3050,1140,110	yes	missense	MYO1G	NM_033054.2	43	5094,1297,112	CC,CT,TT		15.814,3.6541,11.6946	benign	861/1019	45004063	11485,1521	2203	4300	6503	SO:0001583	missense	64005	exon19			TTGTCCTGAAGTG	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.2582A>G	7.37:g.45004063T>C	ENSP00000258787:p.Gln861Arg	118	1		116	5	NM_033054	0	0	5	5	0	Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	CCDS34629.1	1953	0.8942307692307693	485	0.9857723577235772	307	0.8480662983425414	522	0.9125874125874126	639	0.8430079155672823	C	0.005	-2.126850	0.00342	0.963459	0.84186	ENSG00000136286	ENST00000258787	D	0.86694	-2.16	3.57	-0.409	0.12378	Myosin tail 2 (1);	0.559988	0.13491	N	0.383960	T	0.00012	0.0000	N	0.00677	-1.265	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.34925	-0.9809	9	0.09338	T	0.73	.	9.2934	0.37800	0.0:0.4565:0.0:0.5435	rs7792760;rs17491353;rs56969110;rs7792760	861	B0I1T2	MYO1G_HUMAN	R	861	ENSP00000258787:Q861R	ENSP00000258787:Q861R	Q	-	2	0	MYO1G	44970588	0.055000	0.20627	0.010000	0.14722	0.051000	0.14879	0.372000	0.20467	-0.232000	0.09811	-2.820000	0.00109	CAG	C|0.890;N|0.000		0.542	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2		
CFTR	1080	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	117242878	117242878	+	Splice_Site	SNP	A	A	T			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr7:117242878A>T	ENST00000003084.6	+	16	2751		c.e16-1		AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Splice_Site	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)						cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GTTCCATTCCAGGTGGCTGCT	0.383									Cystic Fibrosis																												.		.											.	CFTR-518	0			c.2620-2A>T						.						404.0	356.0	372.0					7																	117242878		2203	4300	6503	SO:0001630	splice_region_variant	1080	exon16	Familial Cancer Database	CF	CATTCCAGGTGGC	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2620-1A>T	7.37:g.117242878A>T		176	0		213	13	NM_000492	0	0	0	0	0	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Splice_Site	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.537515	0.45176	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1087	0.65109	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CFTR	117030114	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	5.418000	0.66429	2.254000	0.74563	0.528000	0.53228	.	.		0.383	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	Intron
EPHA1	2041	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	143098587	143098587	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr7:143098587G>T	ENST00000275815.3	-	3	348	c.262C>A	c.(262-264)Cgc>Agc	p.R88S		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	88	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)				TCCTCCCCGCGGTAGATCCAA	0.612																																					p.R88S		.											.	EPHA1-1436	0			c.C262A						.						141.0	134.0	136.0					7																	143098587		2203	4300	6503	SO:0001583	missense	2041	exon3			CCCCGCGGTAGAT	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.262C>A	7.37:g.143098587G>T	ENSP00000275815:p.Arg88Ser	149	1		169	21	NM_005232	0	0	0	0	0	A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138035	0.94517	.	.	ENSG00000146904	ENST00000275815	T	0.04083	3.71	4.99	4.99	0.66335	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.53938	D	0.000059	T	0.25717	0.0626	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01666	-1.1300	10	0.87932	D	0	.	18.4741	0.90785	0.0:0.0:1.0:0.0	.	88	P21709	EPHA1_HUMAN	S	88	ENSP00000275815:R88S	ENSP00000275815:R88S	R	-	1	0	EPHA1	142808709	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.325000	0.72901	2.597000	0.87782	0.643000	0.83706	CGC	.		0.612	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1		
CLDN23	137075	hgsc.bcm.edu	37	8	8560536	8560536	+	Missense_Mutation	SNP	G	G	A	rs12548737	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr8:8560536G>A	ENST00000519106.1	+	1	1089	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	210			V -> M (in dbSNP:rs12548737).		calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CACCATCCAAGTGGAGTGGCC	0.731													G|||	569	0.113618	0.0083	0.1916	5008	,	,		12622	0.1488		0.0954	False		,,,				2504	0.183				p.V210M		.											.	.	0			c.G628A						.	G	MET/VAL	84,3832		0,84,1874	5.0	8.0	7.0		628	2.3	0.8	8	dbSNP_120	7	857,7211		50,757,3227	yes	missense	CLDN23	NM_194284.2	21	50,841,5101	AA,AG,GG		10.6222,2.145,7.8521	possibly-damaging	210/293	8560536	941,11043	1958	4034	5992	SO:0001583	missense	137075	exon1			ATCCAAGTGGAGT	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"""Claudins"""	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.628G>A	8.37:g.8560536G>A	ENSP00000428780:p.Val210Met	0	0		21	10	NM_194284	0	0	0	5	5	Q08AJ3	Missense_Mutation	SNP	ENST00000519106.1	37	CCDS55195.1	199	0.09111721611721611	8	0.016260162601626018	54	0.14917127071823205	69	0.12062937062937062	68	0.08970976253298153	G	12.41	1.930863	0.34096	0.02145	0.106222	ENSG00000253958	ENST00000519106	T	0.61859	0.07	4.12	2.31	0.28768	.	.	.	.	.	T	0.00300	0.0009	L	0.27053	0.805	0.40159	P	0.022958000000000034	P	0.48162	0.906	P	0.46585	0.521	T	0.03524	-1.1028	8	0.33940	T	0.23	.	8.182	0.31315	0.2087:0.0:0.7913:0.0	rs12548737	210	Q96B33	CLD23_HUMAN	M	210	ENSP00000428780:V210M	ENSP00000428780:V210M	V	+	1	0	CLDN23	8597946	0.949000	0.32298	0.846000	0.33378	0.051000	0.14879	3.623000	0.54224	1.090000	0.41315	0.407000	0.27541	GTG	G|0.907;A|0.093		0.731	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284	
ADAMDEC1	27299	bcgsc.ca	37	8	24261526	24261526	+	Missense_Mutation	SNP	A	A	G	rs3765124	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr8:24261526A>G	ENST00000256412.4	+	13	1551	c.1331A>G	c.(1330-1332)aAt>aGt	p.N444S	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.N365S|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.N365S	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	444	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.		N -> S (in dbSNP:rs3765124).		immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GAGTGTACCAATCTCTGCTGT	0.438													A|||	1477	0.294928	0.0968	0.4553	5008	,	,		17229	0.2044		0.4284	False		,,,				2504	0.4049				p.N444S	Ovarian(147;687 1849 3699 25981 31337)	.											.	ADAMDEC1-228	0			c.A1331G						.	A	SER/ASN,SER/ASN,SER/ASN	677,3729	287.8+/-279.5	52,573,1578	218.0	186.0	197.0		1094,1094,1331	0.4	0.0	8	dbSNP_107	197	3804,4796	537.9+/-383.3	833,2138,1329	yes	missense,missense,missense	ADAMDEC1	NM_001145271.1,NM_001145272.1,NM_014479.3	46,46,46	885,2711,2907	GG,GA,AA		44.2326,15.3654,34.4533	benign,benign,benign	365/392,365/392,444/471	24261526	4481,8525	2203	4300	6503	SO:0001583	missense	27299	exon13			GTACCAATCTCTG	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.1331A>G	8.37:g.24261526A>G	ENSP00000256412:p.Asn444Ser	156	0		222	6	NM_014479	0	0	0	0	0	B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	CCDS6044.1	643	0.2944139194139194	44	0.08943089430894309	152	0.4198895027624309	120	0.2097902097902098	327	0.4313984168865435	A	9.564	1.119311	0.20877	0.153654	0.442326	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.11604	2.76;2.76;2.76	5.6	0.414	0.16406	Blood coagulation inhibitor, Disintegrin (3);	0.558036	0.18286	N	0.145891	T	0.00012	0.0000	L	0.48986	1.54	0.80722	P	0.0	P	0.49862	0.929	P	0.44696	0.458	T	0.48603	-0.9021	9	0.22706	T	0.39	-7.4265	8.0431	0.30534	0.6671:0.0:0.3329:0.0	rs3765124;rs17737352;rs52806941;rs59180631;rs3765124	444	O15204	ADEC1_HUMAN	S	444;365;365	ENSP00000256412:N444S;ENSP00000442592:N365S;ENSP00000428993:N365S	ENSP00000256412:N444S	N	+	2	0	ADAMDEC1	24317471	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.317000	0.19487	-0.144000	0.11314	-0.388000	0.06559	AAT	A|0.687;G|0.313		0.438	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479	
CSMD3	114788	bcgsc.ca	37	8	113418839	113418839	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr8:113418839T>C	ENST00000297405.5	-	35	5967	c.5723A>G	c.(5722-5724)tAt>tGt	p.Y1908C	CSMD3_ENST00000455883.2_Missense_Mutation_p.Y1804C|CSMD3_ENST00000352409.3_Missense_Mutation_p.Y1838C|CSMD3_ENST00000343508.3_Missense_Mutation_p.Y1868C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1908	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGGAGAATATATCCTGGATT	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.Y1908C		.											.	CSMD3-1132	0			c.A5723G						.						119.0	116.0	117.0					8																	113418839		2203	4300	6503	SO:0001583	missense	114788	exon35			AGAATATATCCTG	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5723A>G	8.37:g.113418839T>C	ENSP00000297405:p.Tyr1908Cys	74	0		80	4	NM_198123	0	0	0	0	0	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.129243	0.77549	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	4.91	4.91	0.64330	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000004	T	0.78597	0.4308	H	0.98721	4.31	0.52501	D	0.99995	D;D;D	0.89917	1.0;0.992;1.0	D;P;D	0.97110	0.959;0.895;1.0	D	0.87553	0.2466	10	0.87932	D	0	.	15.0021	0.71483	0.0:0.0:0.0:1.0	.	1804;1908;1868	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	1868;1908;1178;1804;1838	ENSP00000345799:Y1868C;ENSP00000297405:Y1908C;ENSP00000341558:Y1178C;ENSP00000412263:Y1804C;ENSP00000343124:Y1838C	ENSP00000297405:Y1908C	Y	-	2	0	CSMD3	113488015	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.825000	0.86693	2.198000	0.70561	0.533000	0.62120	TAT	.		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
SCRIB	23513	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	144892937	144892937	+	Silent	SNP	C	C	A			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr8:144892937C>A	ENST00000320476.3	-	12	1329	c.1323G>T	c.(1321-1323)ccG>ccT	p.P441P	MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Silent_p.P360P|SCRIB_ENST00000356994.2_Silent_p.P441P	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	441	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				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)			CGCGGCTCGGCGGGGCATCGC	0.647																																					p.P441P	Pancreas(51;966 1133 10533 14576 29674)	.											.	SCRIB-228	0			c.G1323T						.						47.0	46.0	46.0					8																	144892937		2202	4300	6502	SO:0001819	synonymous_variant	23513	exon12			GCTCGGCGGGGCA	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.1323G>T	8.37:g.144892937C>A		24	0		50	19	NM_015356	0	0	3	9	6	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	CCDS6411.1																																																																																			.		0.647	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356	
ABCA1	19	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	107568702	107568702	+	Silent	SNP	G	G	C			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr9:107568702G>C	ENST00000374736.3	-	31	4678	c.4284C>G	c.(4282-4284)ccC>ccG	p.P1428P		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1428					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CTGCCTGGCAGGGCGTGTCTC	0.557																																					p.P1428P		.											.	ABCA1-1016	0			c.C4284G						.						90.0	70.0	77.0					9																	107568702		2203	4300	6503	SO:0001819	synonymous_variant	19	exon31			CTGGCAGGGCGTG	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4284C>G	9.37:g.107568702G>C		120	0		113	37	NM_005502	0	0	0	0	0	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	CCDS6762.1																																																																																			.		0.557	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	
MVB12B	89853	bcgsc.ca	37	9	129102840	129102840	+	Silent	SNP	G	G	A	rs1888156	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr9:129102840G>A	ENST00000361171.3	+	2	216	c.135G>A	c.(133-135)acG>acA	p.T45T	MVB12B_ENST00000545391.1_Silent_p.T45T|MVB12B_ENST00000436593.3_Silent_p.T30T	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	45					protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										TGCCAGAAACGTCAATGGATC	0.478													G|||	1577	0.314896	0.3858	0.3026	5008	,	,		21217	0.2897		0.2903	False		,,,				2504	0.2791				p.T45T		.											.	.	0			c.G135A						.	G	,	1566,2840	491.0+/-362.0	267,1032,904	107.0	100.0	103.0		135,135	-3.0	0.0	9	dbSNP_92	103	2762,5838	439.3+/-359.2	447,1868,1985	no	coding-synonymous,coding-synonymous	FAM125B	NM_001011703.2,NM_033446.2	,	714,2900,2889	AA,AG,GG		32.1163,35.5424,33.2769	,	45/222,45/320	129102840	4328,8678	2203	4300	6503	SO:0001819	synonymous_variant	89853	exon2			AGAAACGTCAATG	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.135G>A	9.37:g.129102840G>A		284	0		291	7	NM_001011703	0	0	1	1	0	Q8N6S7	Silent	SNP	ENST00000361171.3	37	CCDS35142.1																																																																																			G|0.676;A|0.324		0.478	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525	
GLE1	2733	hgsc.bcm.edu	37	9	131303399	131303399	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr9:131303399G>T	ENST00000309971.4	+	16	2153	c.2047G>T	c.(2047-2049)Gac>Tac	p.D683Y	GLE1_ENST00000539582.1_Missense_Mutation_p.D429Y|RP11-216B9.6_ENST00000426704.1_RNA|RP11-216B9.6_ENST00000434999.1_RNA|RNU7-171P_ENST00000459581.1_RNA	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	683	Interaction with NUPL2.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						GCAACACAAGGACATTCCTGT	0.448																																					p.D683Y		.											.	GLE1-22	0			c.G2047T						.						144.0	131.0	136.0					9																	131303399		2203	4300	6503	SO:0001583	missense	2733	exon16			CACAAGGACATTC	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.2047G>T	9.37:g.131303399G>T	ENSP00000308622:p.Asp683Tyr	82	0		80	5	NM_001003722	0	0	28	28	0	O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	ENST00000309971.4	37	CCDS35154.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175366	0.57692	.	.	ENSG00000119392	ENST00000309971;ENST00000539582	T;T	0.76968	-0.07;-1.06	5.94	5.94	0.96194	.	0.478848	0.25590	N	0.029639	T	0.70613	0.3244	N	0.22421	0.69	0.39480	D	0.967866	B	0.22346	0.068	B	0.24701	0.055	T	0.67738	-0.5593	10	0.72032	D	0.01	-19.7302	19.3475	0.94370	0.0:0.0:1.0:0.0	.	683	Q53GS7	GLE1_HUMAN	Y	683;429	ENSP00000308622:D683Y;ENSP00000438670:D429Y	ENSP00000308622:D683Y	D	+	1	0	GLE1	130343220	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.174000	0.65015	2.816000	0.96949	0.563000	0.77884	GAC	.		0.448	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722	
VAV2	7410	bcgsc.ca	37	9	136650966	136650966	+	Silent	SNP	C	C	T	rs142033790	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr9:136650966C>T	ENST00000371850.3	-	17	1495	c.1464G>A	c.(1462-1464)caG>caA	p.Q488Q	VAV2_ENST00000371851.1_Silent_p.Q478Q|VAV2_ENST00000406606.3_Silent_p.Q478Q	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	488	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		ACTGGAAGCCCTGCTTTCCTT	0.537													C|||	65	0.0129792	0.0008	0.0389	5008	,	,		22924	0.0		0.001	False		,,,				2504	0.0368				p.Q488Q		.											.	VAV2-1273	0			c.G1464A						.	C	,	12,4394	20.2+/-43.8	0,12,2191	73.0	62.0	66.0		1464,1434	-0.9	1.0	9	dbSNP_134	66	33,8567	22.2+/-67.0	0,33,4267	no	coding-synonymous,coding-synonymous	VAV2	NM_001134398.1,NM_003371.3	,	0,45,6458	TT,TC,CC		0.3837,0.2724,0.346	,	488/879,478/840	136650966	45,12961	2203	4300	6503	SO:0001819	synonymous_variant	7410	exon17			GAAGCCCTGCTTT		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.1464G>A	9.37:g.136650966C>T		107	1		97	5	NM_001134398	0	0	6	6	0	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	ENST00000371850.3	37	CCDS48053.1																																																																																			C|0.995;T|0.005		0.537	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1		
SLC34A3	142680	hgsc.bcm.edu	37	9	140128914	140128914	+	Silent	SNP	C	C	T	rs113568956	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr9:140128914C>T	ENST00000538474.1	+	11	1364	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	SLC34A3_ENST00000361134.2_Silent_p.L380L	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	380					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGCCGTCCTCGCGGGCGCCG	0.716													C|||	8	0.00159744	0.0008	0.0	5008	,	,		10094	0.0		0.007	False		,,,				2504	0.0				p.L380L		.											.	SLC34A3-90	0			c.C1140T						.	C	,,	1,4237		0,1,2118	8.0	11.0	10.0		1140,1140,1140	-6.8	0.3	9	dbSNP_132	10	36,8338		0,36,4151	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC34A3	NM_001177316.1,NM_001177317.1,NM_080877.2	,,	0,37,6269	TT,TC,CC		0.4299,0.0236,0.2934	,,	380/600,380/600,380/600	140128914	37,12575	2119	4187	6306	SO:0001819	synonymous_variant	142680	exon11			CGTCCTCGCGGGC	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1140C>T	9.37:g.140128914C>T		0	0		17	8	NM_001177317	0	0	0	0	0	A2BFA1	Silent	SNP	ENST00000538474.1	37	CCDS7038.1																																																																																			C|0.995;T|0.005		0.716	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877	
ANKRD30BL	554226	bcgsc.ca	37	2	133014651	133014652	+	Intron	INS	-	-	C	rs150907057|rs147164632|rs565373825|rs111708138		TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr2:133014651_133014652insC	ENST00000470729.1	-	1	441				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						GGCCCTCGGCACCACCGAGACC	0.678																																					.		.											.	.	0			.						.																																			SO:0001627	intron_variant	100313824	.			CTCGGCACCACCG			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.984+449->G	2.37:g.133014653_133014653dupC		33	0		81	30	.	0	0	0	0	0	B8ZZL7	RNA	INS	ENST00000470729.1	37																																																																																				.		0.678	ANKRD30BL-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000331354.1	NR_027019	
C21orf58	54058	broad.mit.edu	37	21	47721985	47721986	+	In_Frame_Ins	INS	-	-	TGG	rs144178764|rs112899928|rs35902237|rs71318063	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr21:47721985_47721986insTGG	ENST00000291691.7	-	8	2032_2033	c.896_897insCCA	c.(895-897)cat>caCCAt	p.299_299H>HH	C21orf58_ENST00000397680.1_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000397683.1_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000397682.3_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000472607.1_5'UTR|C21orf58_ENST00000397679.1_In_Frame_Ins_p.193_193H>HH	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	299	Poly-His.							p.H299_A300insH(3)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		GCCACACAGCAtggtggtggtg	0.708														1382	0.275958	0.1384	0.4063	5008	,	,		16708	0.3046		0.3091	False		,,,				2504	0.3057				p.H299delinsHH		.											.	C21orf58-91	3	Insertion - In frame(3)	breast(2)|central_nervous_system(1)	c.897_898insCCA						.																																			SO:0001652	inframe_insertion	54058	exon8			CACAGCATGGTGG		CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.894_896dupCCA	21.37:g.47721992_47721994dupTGG	ENSP00000291691:p.His299dup	5	0		71	10	NM_058180	0	0	0	0	0	B3KPI1	In_Frame_Ins	INS	ENST00000291691.7	37	CCDS13735.1																																																																																			-|0.500;TGG|0.500		0.708	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207283.1	NM_058180	
KIAA1211	57482	hgsc.bcm.edu	37	4	57180576	57180577	+	In_Frame_Ins	INS	-	-	GGAGCGGAG	rs71921617|rs138358443|rs11276076	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr4:57180576_57180577insGGAGCGGAG	ENST00000504228.1	+	6	1013_1014	c.908_909insGGAGCGGAG	c.(907-912)gcggag>gcGGAGCGGAGggag	p.307_308insRRE	KIAA1211_ENST00000541073.1_In_Frame_Ins_p.300_301insRRE|KIAA1211_ENST00000264229.6_In_Frame_Ins_p.307_308insRRE			Q6ZU35	K1211_HUMAN	KIAA1211	307	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TGGGAGGACGCGGAGCGGAGGG	0.733																																					p.A303delinsAERR		.											.	KIAA1211-70	0			c.908_909insGGAGCGGAG						.																																			SO:0001652	inframe_insertion	57482	exon8			AGGACGCGGAGCG	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.909_917dupGGAGCGGAG	4.37:g.57180577_57180585dupGGAGCGGAG	ENSP00000423366:p.Arg305_Glu307dup	2	0		31	20	NM_020722	0	0	0	0	0	Q9NTE2|Q9NTP8|Q9ULK9	In_Frame_Ins	INS	ENST00000504228.1	37	CCDS43230.1																																																																																			.		0.733	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722	
