#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
MMEL1	79258	bcgsc.ca	37	1	2560882	2560882	+	Silent	SNP	G	G	A	rs4648658	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr1:2560882G>A	ENST00000378412.3	-	2	203	c.42C>T	c.(40-42)gcC>gcT	p.A14A	MMEL1_ENST00000511099.1_5'Flank|MMEL1_ENST00000502556.1_Silent_p.A14A|MMEL1_ENST00000288709.6_Silent_p.A5A			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	14						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CTGCACGGCCGGCGCTCTCCA	0.711													-|||	2311	0.461462	0.2693	0.5101	5008	,	,		11458	0.4633		0.672	False		,,,				2504	0.4683				p.A14A		.											.	MMEL1-90	0			c.C42T						.	G		1386,2372		292,802,785	11.0	12.0	12.0		42	-4.6	0.0	1	dbSNP_111	12	5087,2117		1849,1389,364	no	coding-synonymous	MMEL1	NM_033467.3		2141,2191,1149	AA,AG,GG		29.3865,36.8813,40.9506		14/780	2560882	6473,4489	1879	3602	5481	SO:0001819	synonymous_variant	79258	exon2			ACGGCCGGCGCTC	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.42C>T	1.37:g.2560882G>A		8	0		86	83	NM_033467	0	0	0	0	0	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	CCDS30569.2																																																																																			G|0.473;A|0.527		0.711	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467	
MMEL1	79258	bcgsc.ca	37	1	2560903	2560903	+	Silent	SNP	T	T	G	rs4648659	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr1:2560903T>G	ENST00000378412.3	-	2	182	c.21A>C	c.(19-21)ccA>ccC	p.P7P	MMEL1_ENST00000511099.1_5'Flank|MMEL1_ENST00000502556.1_Silent_p.P7P|MMEL1_ENST00000288709.6_5'UTR			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	7						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CCATCCCCACTGGGCCTTCGG	0.721													-|||	2583	0.515775	0.4334	0.5519	5008	,	,		11780	0.4683		0.6909	False		,,,				2504	0.4703				p.P7P		.											.	MMEL1-90	0			c.A21C						.	G		1843,1861		506,831,515	9.0	10.0	10.0		21	-6.5	0.0	1	dbSNP_111	10	5044,2006		1842,1360,323	no	coding-synonymous	MMEL1	NM_033467.3		2348,2191,838	GG,GT,TT		28.4539,49.757,35.9587		7/780	2560903	6887,3867	1852	3525	5377	SO:0001819	synonymous_variant	79258	exon2			CCCCACTGGGCCT	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.21A>C	1.37:g.2560903T>G		8	0		75	72	NM_033467	0	0	0	0	0	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	CCDS30569.2																																																																																			T|0.424;G|0.576		0.721	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467	
ESPN	83715	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	6488334	6488334	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr1:6488334G>C	ENST00000377828.1	+	2	511	c.343G>C	c.(343-345)Ggc>Cgc	p.G115R	MIR4252_ENST00000585139.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	115					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGCCCGCTTCGGCCACCCCGA	0.632																																					p.G115R		.											.	ESPN-514	0			c.G343C						.						75.0	80.0	78.0					1																	6488334		2203	4300	6503	SO:0001583	missense	83715	exon2			CGCTTCGGCCACC	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.343G>C	1.37:g.6488334G>C	ENSP00000367059:p.Gly115Arg	149	1		189	159	NM_031475	0	0	0	0	0	Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	ENST00000377828.1	37	CCDS70.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467900	0.84533	.	.	ENSG00000187017	ENST00000377828	T	0.72835	-0.69	4.48	4.48	0.54585	Ankyrin repeat-containing domain (4);	0.067526	0.64402	D	0.000014	D	0.82449	0.5039	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84903	0.0843	10	0.87932	D	0	-29.6759	15.9108	0.79473	0.0:0.0:1.0:0.0	.	115	B1AK53	ESPN_HUMAN	R	115	ENSP00000367059:G115R	ENSP00000367059:G115R	G	+	1	0	ESPN	6410921	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.017000	0.76399	2.304000	0.77564	0.563000	0.77884	GGC	.		0.632	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475	
CAMTA1	23261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	7725013	7725013	+	Silent	SNP	G	G	A	rs149314642		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr1:7725013G>A	ENST00000303635.7	+	9	2613	c.2406G>A	c.(2404-2406)gcG>gcA	p.A802A	CAMTA1_ENST00000439411.2_Silent_p.A802A	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	802					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACAGCACGGCGCTCTCACAGT	0.652			T	WWTR1	epitheliod hemangioendothelioma																																p.A802A		.		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	.	CAMTA1-520	0			c.G2406A						.	A		0,4406		0,0,2203	106.0	126.0	119.0		2406	-5.2	0.1	1	dbSNP_134	119	1,8599		0,1,4299	no	coding-synonymous	CAMTA1	NM_015215.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		802/1674	7725013	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23261	exon9			CACGGCGCTCTCA	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2406G>A	1.37:g.7725013G>A		116	0		135	37	NM_015215	0	0	0	0	0	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	CCDS30576.1																																																																																			G|1.000;A|0.000		0.652	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	
PADI1	29943	hgsc.bcm.edu	37	1	17550187	17550187	+	Splice_Site	SNP	C	C	T	rs143089550		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr1:17550187C>T	ENST00000375471.4	+	3	437	c.345C>T	c.(343-345)gtC>gtT	p.V115V		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	115					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TCACTGGCGTCGGTAAGTAGC	0.582																																					p.V115V	Esophageal Squamous(80;414 1257 4580 27746 50832)	.											.	PADI1-68	0			c.C345T						.	C		0,4406		0,0,2203	107.0	85.0	93.0		345	-7.4	0.0	1	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice	PADI1	NM_013358.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		115/664	17550187	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	29943	exon3			TGGCGTCGGTAAG	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.346+1C>T	1.37:g.17550187C>T		85	0		59	3	NM_013358	0	0	0	0	0	A1L4K6|Q70SX6	Silent	SNP	ENST00000375471.4	37	CCDS178.1																																																																																			C|1.000;T|0.000		0.582	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358	Silent
AKR7L	246181	bcgsc.ca	37	1	19600386	19600386	+	RNA	SNP	C	C	T	rs112053480	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr1:19600386C>T	ENST00000429712.1	-	0	302				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						TTCGGAGCCCCAGGCCGCCAA	0.682													C|||	536	0.107029	0.2859	0.0764	5008	,	,		15326	0.0		0.0944	False		,,,				2504	0.0102				.		.											.	AKR7L-90	0			.						.	C		353,1027		53,247,390	34.0	40.0	38.0			3.2	1.0	1	dbSNP_132	38	305,2877		25,255,1311	no	intergenic				78,502,1701	TT,TC,CC		9.5852,25.5797,14.4235			19600386	658,3904	690	1591	2281			246181	.			GAGCCCCAGGCCG			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19600386C>T		260	2		415	12	.	0	0	0	0	0	Q5U614	RNA	SNP	ENST00000429712.1	37		237	0.10851648351648352	134	0.27235772357723576	31	0.0856353591160221	0	0.0	72	0.09498680738786279	C	1.618	-0.522172	0.04171	0.255797	0.095852	ENSG00000211454	ENST00000457194	.	.	.	3.15	3.15	0.36227	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3012	0.60326	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	.	W	-	2	0	AKR7L	19472973	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	4.448000	0.60027	1.772000	0.52199	0.195000	0.17529	TGG	C|0.896;T|0.104		0.682	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252	
HSPG2	3339	bcgsc.ca	37	1	22154845	22154845	+	Silent	SNP	A	A	G	rs2228347	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr1:22154845A>G	ENST00000374695.3	-	89	12391	c.12312T>C	c.(12310-12312)gaT>gaC	p.D4104D	HSPG2_ENST00000486901.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4104	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ATGGGGAGCTATCATAGCATT	0.587													G|||	1288	0.257188	0.1172	0.2161	5008	,	,		18078	0.1577		0.3241	False		,,,				2504	0.5092				p.D4104D		.											.	HSPG2-141	0			c.T12312C						.	G		648,3758	764.0+/-413.3	57,534,1612	99.0	85.0	90.0		12312	3.5	1.0	1	dbSNP_98	90	2634,5966	686.8+/-404.2	403,1828,2069	no	coding-synonymous	HSPG2	NM_005529.5		460,2362,3681	GG,GA,AA		30.6279,14.7072,25.2345		4104/4392	22154845	3282,9724	2203	4300	6503	SO:0001819	synonymous_variant	3339	exon89			GGAGCTATCATAG	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.12312T>C	1.37:g.22154845A>G		137	0		101	5	NM_005529	0	0	6	6	0	Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	CCDS30625.1																																																																																			T|0.194;G|0.194;C|0.056;A|0.556		0.587	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	
RAD54L	8438	bcgsc.ca	37	1	46743900	46743900	+	Silent	SNP	C	C	T	rs1048771	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr1:46743900C>T	ENST00000371975.4	+	18	2864	c.2190C>T	c.(2188-2190)gcC>gcT	p.A730A	RAD54L_ENST00000442598.1_Silent_p.A730A|LRRC41_ENST00000472710.1_5'Flank	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	730					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCTCCACTGCCATCACCTTCG	0.592								Direct reversal of damage;Homologous recombination					C|||	930	0.185703	0.0257	0.1167	5008	,	,		16392	0.2768		0.1382	False		,,,				2504	0.4059				p.A730A		.											.	RAD54L-229	0			c.C2190T						.	C	,	190,4216	120.4+/-158.0	4,182,2017	36.0	35.0	35.0		2190,2190	1.5	1.0	1	dbSNP_86	35	1045,7555	218.0+/-256.5	56,933,3311	no	coding-synonymous,coding-synonymous	RAD54L	NM_001142548.1,NM_003579.3	,	60,1115,5328	TT,TC,CC		12.1512,4.3123,9.4956	,	730/748,730/748	46743900	1235,11771	2203	4300	6503	SO:0001819	synonymous_variant	8438	exon18			CACTGCCATCACC	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.2190C>T	1.37:g.46743900C>T		161	0		145	6	NM_003579	0	0	6	6	0	Q5TE31|Q6IUY3	Silent	SNP	ENST00000371975.4	37	CCDS532.1																																																																																			C|0.877;T|0.123		0.592	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579	
FNDC7	163479	bcgsc.ca	37	1	109268441	109268441	+	Missense_Mutation	SNP	G	G	A	rs11582005	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr1:109268441G>A	ENST00000370017.3	+	6	1203	c.926G>A	c.(925-927)aGt>aAt	p.S309N	FNDC7_ENST00000271311.2_Missense_Mutation_p.S310N	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	309	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.		S -> N (in dbSNP:rs11582005).			extracellular region (GO:0005576)		p.S76N(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GCTTGGTCCAGTGTAGATCTG	0.468													g|||	849	0.169529	0.3215	0.0865	5008	,	,		13449	0.0992		0.1412	False		,,,				2504	0.1247				p.S309N		.											.	FNDC7-92	1	Substitution - Missense(1)	stomach(1)	c.G926A						.	A	ASN/SER	1308,3098	442.5+/-346.7	205,898,1100	153.0	134.0	140.0		926	-8.0	0.0	1	dbSNP_120	140	1301,7299	258.3+/-282.0	100,1101,3099	yes	missense	FNDC7	NM_001144937.1	46	305,1999,4199	AA,AG,GG		15.1279,29.6868,20.06	benign	309/734	109268441	2609,10397	2203	4300	6503	SO:0001583	missense	163479	exon6			GGTCCAGTGTAGA		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.926G>A	1.37:g.109268441G>A	ENSP00000359034:p.Ser309Asn	126	0		124	9	NM_001144937	0	0	0	0	0	A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	ENST00000370017.3	37	CCDS44185.1	365	0.1671245421245421	162	0.32926829268292684	32	0.08839779005524862	60	0.1048951048951049	111	0.14643799472295516	g	1.406	-0.576763	0.03854	0.296868	0.151279	ENSG00000143107	ENST00000370017;ENST00000271311	T;T	0.23147	1.92;1.92	5.9	-8.02	0.01118	Fibronectin, type III (3);	0.712224	0.14967	N	0.288052	T	0.04452	0.0122	N	0.19112	0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.22765	-1.0207	9	0.28530	T	0.3	-2.9951	14.2542	0.66040	0.3755:0.0844:0.5401:0.0	rs11582005;rs52796157;rs59157354;rs11582005	310;309	Q5VTL7;E9PAZ5	FNDC7_HUMAN;.	N	309;310	ENSP00000359034:S309N;ENSP00000271311:S310N	ENSP00000271311:S310N	S	+	2	0	FNDC7	109069964	0.000000	0.05858	0.001000	0.08648	0.816000	0.46133	-1.892000	0.01610	-2.225000	0.00724	-2.021000	0.00431	AGT	G|0.816;A|0.184		0.468	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532	
ECM1	1893	bcgsc.ca	37	1	150484987	150484987	+	Missense_Mutation	SNP	G	G	A	rs13294	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr1:150484987G>A	ENST00000369047.4	+	8	1368	c.1243G>A	c.(1243-1245)Ggt>Agt	p.G415S	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.G442S|ECM1_ENST00000346569.6_Missense_Mutation_p.G290S	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	415			G -> S (in dbSNP:rs13294). {ECO:0000269|PubMed:12603844, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9367673}.		angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CATTGACATCGGTCGAGTCAC	0.572													A|||	1335	0.266573	0.1747	0.2709	5008	,	,		19087	0.2371		0.3827	False		,,,				2504	0.2986				p.G442S	Melanoma(156;1696 2560 11093 19685)	.											.	ECM1-92	0			c.G1324A						.	A	SER/GLY,SER/GLY,SER/GLY	917,3489	739.0+/-411.0	107,703,1393	122.0	106.0	111.0		1324,1243,868	4.2	1.0	1	dbSNP_52	111	3534,5066	631.3+/-398.5	750,2034,1516	yes	missense,missense,missense	ECM1	NM_001202858.1,NM_004425.3,NM_022664.2	56,56,56	857,2737,2909	AA,AG,GG		41.093,20.8125,34.2227	benign,benign,benign	442/568,415/541,290/416	150484987	4451,8555	2203	4300	6503	SO:0001583	missense	1893	exon8			GACATCGGTCGAG	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1243G>A	1.37:g.150484987G>A	ENSP00000358043:p.Gly415Ser	203	2		202	6	NM_001202858	0	0	3	3	0	A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	CCDS953.1	621	0.28434065934065933	84	0.17073170731707318	116	0.32044198895027626	136	0.23776223776223776	285	0.3759894459102902	A	0.158	-1.083944	0.01888	0.208125	0.41093	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.72505	-0.66;-0.66;-0.66	4.17	4.17	0.49024	.	0.128269	0.49305	N	0.000143	T	0.11024	0.0269	N	0.00146	-1.995	0.37322	P	0.09041100000000002	B;B;B	0.10296	0.003;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.10989	-1.0606	9	0.19590	T	0.45	-9.9071	6.5783	0.22579	0.8895:0.0:0.1105:0.0	rs13294;rs1050877;rs3170610;rs17357598;rs17650780;rs17856688;rs56766781;rs13294	442;290;415	Q16610-4;Q16610-2;Q16610	.;.;ECM1_HUMAN	S	442;415;290	ENSP00000358045:G442S;ENSP00000358043:G415S;ENSP00000271630:G290S	ENSP00000271630:G290S	G	+	1	0	ECM1	148751611	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	0.899000	0.28417	0.736000	0.32559	-0.521000	0.04368	GGT	A|0.317;C|0.005		0.572	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425	
C1orf68	100129271	broad.mit.edu;bcgsc.ca	37	1	152692588	152692588	+	Silent	SNP	A	A	G	rs944682	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr1:152692588A>G	ENST00000368775.2	+	1	591	c.591A>G	c.(589-591)tcA>tcG	p.S197S		NM_001024679.2	NP_001019850.1	Q5T750	XP32_HUMAN	chromosome 1 open reading frame 68	197	Cys-rich.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)		p.S197S(1)		NS(1)|breast(1)|lung(2)|prostate(1)|stomach(3)	8						ACACAGGATCATCTGGCTGCT	0.607													G|||	1749	0.349241	0.5461	0.3804	5008	,	,		17978	0.1716		0.3608	False		,,,				2504	0.2321				p.S197S		.											.	C1orf68-69	1	Substitution - coding silent(1)	stomach(1)	c.A591G						.	G		693,691		176,341,175	51.0	49.0	50.0		591	-8.4	0.1	1	dbSNP_86	50	1113,2069		189,735,667	no	coding-synonymous	C1orf68	NM_001024679.2		365,1076,842	GG,GA,AA		34.978,49.9277,39.5532		197/251	152692588	1806,2760	692	1591	2283	SO:0001819	synonymous_variant	100129271	exon1			AGGATCATCTGGC	AF005081	CCDS44226.1	1q21.3	2014-05-30			ENSG00000198854	ENSG00000198854			29468	protein-coding gene	gene with protein product						11698679	Standard	NM_001024679		Approved	LEP7	uc010pdu.2	Q5T750	OTTHUMG00000012401	ENST00000368775.2:c.591A>G	1.37:g.152692588A>G		104	0		79	5	NM_001024679	0	0	0	0	0	O14634	Silent	SNP	ENST00000368775.2	37	CCDS44226.1																																																																																			A|0.651;G|0.349		0.607	C1orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034521.2	NM_001024679	
C1orf106	55765	hgsc.bcm.edu	37	1	200880978	200880978	+	Missense_Mutation	SNP	C	C	T	rs296520	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr1:200880978C>T	ENST00000367342.4	+	9	1812	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	C1orf106_ENST00000413687.2_Missense_Mutation_p.R453C	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	538			R -> C (in dbSNP:rs296520). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GTGGGAGCTGCGCCGCGCAGC	0.736													T|||	3966	0.791933	0.6089	0.8213	5008	,	,		12017	0.997		0.7256	False		,,,				2504	0.8753				p.R552C		.											.	C1orf106-93	0			c.C1654T						.	T	CYS/ARG,CYS/ARG	2547,1503		890,767,368	5.0	7.0	6.0		1357,1612	0.8	0.0	1	dbSNP_79	6	5587,2355		2124,1339,508	no	missense,missense	C1orf106	NM_001142569.2,NM_018265.3	180,180	3014,2106,876	TT,TC,CC		29.6525,37.1111,32.1714	benign,benign	453/579,538/664	200880978	8134,3858	2025	3971	5996	SO:0001583	missense	55765	exon9			GAGCTGCGCCGCG	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1612C>T	1.37:g.200880978C>T	ENSP00000356311:p.Arg538Cys	0	0		10	10	NM_018265	0	0	0	0	0	B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37		1677	0.7678571428571429	261	0.5304878048780488	285	0.787292817679558	569	0.9947552447552448	562	0.741424802110818	T	0.366	-0.936884	0.02340	0.628889	0.703475	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.28454	1.61;1.61	3.39	0.759	0.18438	.	0.912041	0.09365	N	0.812206	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16188	-1.0411	9	0.29301	T	0.29	-23.0614	3.796	0.08740	0.0:0.2241:0.1856:0.5903	rs296520;rs7519373;rs56757010	538	Q3KP66	CA106_HUMAN	C	538;453	ENSP00000356311:R538C;ENSP00000392105:R453C	ENSP00000356311:R538C	R	+	1	0	C1orf106	199147601	0.004000	0.15560	0.002000	0.10522	0.007000	0.05969	-0.731000	0.04909	-0.124000	0.11724	-0.381000	0.06696	CGC	C|0.242;T|0.758		0.736	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265	
JMJD4	65094	hgsc.bcm.edu	37	1	227923081	227923081	+	Missense_Mutation	SNP	G	G	A	rs7419238		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr1:227923081G>A	ENST00000366758.3	-	1	31	c.32C>T	c.(31-33)gCg>gTg	p.A11V	JMJD4_ENST00000438896.2_Missense_Mutation_p.A11V|JMJD4_ENST00000485807.1_5'Flank|SNAP47_ENST00000366759.4_5'UTR|SNAP47_ENST00000315781.5_5'UTR|SNAP47_ENST00000366760.1_Intron	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	11			A -> V (in dbSNP:rs7419238). {ECO:0000269|PubMed:14702039}.							endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				TTTCTGCCCCGCCAGCGCCTG	0.741													A|||	5008	1.0	1.0	1.0	5008	,	,		11222	1.0		1.0	False		,,,				2504	1.0				p.A11V		.											.	JMJD4-226	0			c.C32T						.	A	VAL/ALA,VAL/ALA,	4035,1		2017,1,0	6.0	7.0	7.0		32,32,	2.0	0.0	1	dbSNP_116	7	8000,0		4000,0,0	yes	missense,missense,utr-5	JMJD4,SNAP47	NM_001161465.1,NM_023007.2,NM_053052.3	64,64,	6017,1,0	AA,AG,GG		0.0,0.0248,0.0083	benign,benign,	11/448,11/464,	227923081	12035,1	2018	4000	6018	SO:0001583	missense	65094	exon1			TGCCCCGCCAGCG	AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.32C>T	1.37:g.227923081G>A	ENSP00000355720:p.Ala11Val	0	0		3	3	NM_023007	0	0	0	0	0	Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	ENST00000366758.3	37	CCDS1561.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	361|361	0.9972375690607734|0.9972375690607734	572|572	1.0|1.0	754|754	0.9947229551451188|0.9947229551451188	A|A	2.779|2.779	-0.253926|-0.253926	0.05829|0.05829	0.999752|0.999752	1.0|1.0	ENSG00000081692|ENSG00000081692	ENST00000366758|ENST00000438896	T|.	0.19806|.	2.12|.	3.58|3.58	1.99|1.99	0.26369|0.26369	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	P|P	0.0|0.0	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.27400|0.27400	-1.0075|-1.0075	8|4	0.02654|.	T|.	1|.	.|.	5.7765|5.7765	0.18281|0.18281	0.6536:0.0:0.3464:0.0|0.6536:0.0:0.3464:0.0	rs7419238;rs58641567;rs7419238|rs7419238;rs58641567;rs7419238	11;11|.	Q9H9V9-2;Q9H9V9|.	.;JMJD4_HUMAN|.	V|W	11|4	ENSP00000355720:A11V|.	ENSP00000355720:A11V|.	A|R	-|-	2|1	0|2	JMJD4|JMJD4	225989704|225989704	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.100000|-0.100000	0.10990|0.10990	-0.047000|-0.047000	0.13423|0.13423	-0.268000|-0.268000	0.10319|0.10319	GCG|CGG	G|0.002;A|0.998		0.741	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007	
IBA57	200205	broad.mit.edu	37	1	228362441	228362441	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr1:228362441C>A	ENST00000366711.3	+	2	392	c.390C>A	c.(388-390)agC>agA	p.S130R	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_5'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	130					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)	p.S130R(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						AGTGTGACAGCTCGGTGCAGG	0.662																																					p.S130R		.											.	IBA57-90	2	Substitution - Missense(2)	prostate(1)|central_nervous_system(1)	c.C390A						.						24.0	24.0	24.0					1																	228362441		2199	4296	6495	SO:0001583	missense	200205	exon2			TGACAGCTCGGTG	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"""iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"""	615316	"""chromosome 1 open reading frame 69"""	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.390C>A	1.37:g.228362441C>A	ENSP00000355672:p.Ser130Arg	27	1		75	10	NM_001010867	0	0	1	1	0		Missense_Mutation	SNP	ENST00000366711.3	37	CCDS31046.1	.	.	.	.	.	.	.	.	.	.	C	7.793	0.711906	0.15306	.	.	ENSG00000181873	ENST00000366711	T	0.75154	-0.91	4.65	0.706	0.18133	Glycine cleavage T-protein, N-terminal (1);	0.591122	0.18565	N	0.137486	T	0.57651	0.2068	N	0.25647	0.755	0.20307	N	0.999915	B	0.12013	0.005	B	0.20384	0.029	T	0.42582	-0.9443	10	0.28530	T	0.3	-8.2527	8.9387	0.35715	0.0:0.6235:0.0:0.3765	.	130	Q5T440	CAF17_HUMAN	R	130	ENSP00000355672:S130R	ENSP00000355672:S130R	S	+	3	2	IBA57	226429064	0.000000	0.05858	0.001000	0.08648	0.127000	0.20565	-0.053000	0.11846	-0.022000	0.13986	0.655000	0.94253	AGC	.		0.662	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1	NM_001010867	
OBSCN	84033	hgsc.bcm.edu	37	1	228504670	228504670	+	Missense_Mutation	SNP	C	C	T	rs11810627	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr1:228504670C>T	ENST00000422127.1	+	51	13590	c.13546C>T	c.(13546-13548)Cgg>Tgg	p.R4516W	OBSCN_ENST00000366709.4_Missense_Mutation_p.R1635W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5473W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4516W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2150W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4516	Ig-like 46.		R -> W (in dbSNP:rs11810627).		apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCTCTGCGCGGCTCACCGT	0.736													c|||	1654	0.330272	0.2791	0.4006	5008	,	,		13971	0.249		0.4861	False		,,,				2504	0.273				p.R5473W		.											.	OBSCN-403	0			c.C16417T						.		TRP/ARG,TRP/ARG	923,2833		165,593,1120	5.0	6.0	6.0		13546,13546	-1.0	0.0	1	dbSNP_120	6	3333,4245		861,1611,1317	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	101,101	1026,2204,2437	TT,TC,CC		43.9826,24.574,37.5507	probably-damaging,probably-damaging	4516/7969,4516/6621	228504670	4256,7078	1878	3789	5667	SO:0001583	missense	84033	exon62			TCTGCGCGGCTCA	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13546C>T	1.37:g.228504670C>T	ENSP00000409493:p.Arg4516Trp	1	1		9	9	NM_001271223	0	0	0	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	774	0.3543956043956044	137	0.2784552845528455	144	0.39779005524861877	134	0.23426573426573427	359	0.4736147757255937	c	11.94	1.787178	0.31593	0.24574	0.439826	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.77098	-1.07;-1.07;0.2;0.2	5.41	-0.971	0.10303	Immunoglobulin subtype (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.167607	0.36519	N	0.002550	T	0.00012	0.0000	L	0.41824	1.3	0.50632	P	1.1499999999997623E-4	B;B	0.22541	0.071;0.067	B;B	0.12156	0.007;0.007	T	0.42275	-0.9461	9	0.45353	T	0.12	.	10.3619	0.43998	0.6084:0.317:0.0:0.0747	rs11810627	4516;4516	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4516;4516;2150;1635	ENSP00000284548:R4516W;ENSP00000409493:R4516W;ENSP00000355668:R2150W;ENSP00000355670:R1635W	ENSP00000284548:R4516W	R	+	1	2	OBSCN	226571293	0.968000	0.33430	0.013000	0.15412	0.016000	0.09150	2.032000	0.41127	-0.028000	0.13850	0.550000	0.68814	CGG	C|0.643;T|0.357		0.736	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OR2M5	127059	bcgsc.ca	37	1	248309020	248309020	+	Missense_Mutation	SNP	G	G	A	rs139290187	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr1:248309020G>A	ENST00000366476.1	+	1	571	c.571G>A	c.(571-573)Gac>Aac	p.D191N		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTCATGCAATGACACATCAAT	0.418																																					p.D191N		.											.	OR2M5-71	0			c.G571A						.						284.0	272.0	276.0					1																	248309020		2203	4300	6503	SO:0001583	missense	127059	exon1			TGCAATGACACAT		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.571G>A	1.37:g.248309020G>A	ENSP00000355432:p.Asp191Asn	220	2		196	12	NM_001004690	0	0	0	0	0		Missense_Mutation	SNP	ENST00000366476.1	37	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	13.27	2.186763	0.38609	.	.	ENSG00000162727	ENST00000366476	T	0.00231	8.49	3.05	-0.584	0.11702	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33691	U	0.004660	T	0.00178	0.0005	M	0.63843	1.955	0.09310	N	1	B	0.20052	0.041	B	0.25405	0.06	T	0.40739	-0.9547	10	0.52906	T	0.07	.	6.3472	0.21355	0.2028:0.2355:0.5617:0.0	.	191	A3KFT3	OR2M5_HUMAN	N	191	ENSP00000355432:D191N	ENSP00000355432:D191N	D	+	1	0	OR2M5	246375643	0.002000	0.14202	0.001000	0.08648	0.566000	0.35808	0.608000	0.24223	-0.004000	0.14419	0.492000	0.49549	GAC	G|0.999;A|0.001		0.418	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690	
IL15RA	3601	bcgsc.ca	37	10	6008172	6008172	+	Silent	SNP	C	C	T	rs2296139	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr10:6008172C>T	ENST00000379977.3	-	2	316	c.219G>A	c.(217-219)acG>acA	p.T73T	IL15RA_ENST00000397248.2_Silent_p.T37T|IL15RA_ENST00000528354.1_Silent_p.T73T|IL15RA_ENST00000530685.1_Silent_p.T73T|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000379971.1_Intron|IL15RA_ENST00000397251.3_Intron|IL15RA_ENST00000525219.2_Silent_p.T37T|IL15RA_ENST00000397250.2_Intron|IL15RA_ENST00000397255.3_Silent_p.T73T			Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	73	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron projection development (GO:0010977)|positive regulation of natural killer cell differentiation (GO:0032825)|response to nutrient levels (GO:0031667)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						ACACGCACTCCGTCAGGCTGG	0.557													C|||	906	0.180911	0.1528	0.2363	5008	,	,		19718	0.2728		0.1372	False		,,,				2504	0.1299				p.T159T		.											.	IL15RA-90	0			c.G477A						.	C	,	710,3696	295.3+/-283.6	69,572,1562	91.0	78.0	82.0		219,219	-9.6	0.0	10	dbSNP_100	82	1168,7432	238.5+/-269.9	78,1012,3210	no	coding-synonymous,coding-synonymous	IL15RA	NM_002189.3,NM_172200.2	,	147,1584,4772	TT,TC,CC		13.5814,16.1144,14.4395	,	73/268,73/235	6008172	1878,11128	2203	4300	6503	SO:0001819	synonymous_variant	3601	exon3			GCACTCCGTCAGG	U31628	CCDS7074.1, CCDS7075.1, CCDS7075.2, CCDS58069.1, CCDS73065.1	10p15.1	2012-02-27			ENSG00000134470	ENSG00000134470		"""Interleukins and interleukin receptors"", ""CD molecules"""	5978	protein-coding gene	gene with protein product		601070				8530383	Standard	NM_002189		Approved	CD215, IL-15RA	uc021pmo.1	Q13261	OTTHUMG00000017612	ENST00000379977.3:c.219G>A	10.37:g.6008172C>T		224	1		183	6	NM_001256765	0	0	0	0	0	B4E2C2|Q3B769|Q5JVA1|Q5JVA2|Q5JVA4|Q6B0J2|Q7LDR4|Q7Z609	Silent	SNP	ENST00000379977.3	37	CCDS7074.1	435	0.19917582417582416	75	0.1524390243902439	89	0.24585635359116023	161	0.28146853146853146	110	0.14511873350923482	C	0.281	-0.986178	0.02180	0.161144	0.135814	ENSG00000134470	ENST00000532039	.	.	.	4.8	-9.6	0.00553	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	6.999999999979245E-6	.	.	.	.	.	.	T	0.16247	-1.0409	3	.	.	.	-16.2672	4.7489	0.13050	0.1859:0.2269:0.4771:0.1101	rs2296139;rs3181146;rs59321592;rs2296139	.	.	.	Q	44	.	.	R	-	2	0	IL15RA	6048178	0.000000	0.05858	0.012000	0.15200	0.048000	0.14542	-4.151000	0.00285	-2.394000	0.00583	-1.393000	0.01150	CGG	C|0.832;T|0.168		0.557	IL15RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046615.2	NM_172200, NM_002189	
CSGALNACT2	55454	broad.mit.edu	37	10	43659419	43659419	+	Missense_Mutation	SNP	G	G	T	rs79064394		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr10:43659419G>T	ENST00000374466.3	+	5	1421	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	362					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.L362F(5)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGAGGTCTTGATGTTTTTCT	0.433																																					p.L362F		.											.	CSGALNACT2-69	5	Substitution - Missense(5)	endometrium(4)|kidney(1)	c.G1086T						.						223.0	221.0	222.0					10																	43659419		2203	4300	6503	SO:0001583	missense	55454	exon5			GGTCTTGATGTTT	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1086G>T	10.37:g.43659419G>T	ENSP00000363590:p.Leu362Phe	161	1		110	4	NM_018590	0	0	1	1	0	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499782	0.85176	.	.	ENSG00000169826	ENST00000374466	T	0.27256	1.68	6.08	5.17	0.71159	.	0.064535	0.64402	D	0.000004	T	0.57359	0.2048	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63721	-0.6573	10	0.87932	D	0	-11.7375	14.8306	0.70146	0.0683:0.0:0.9317:0.0	.	362	Q8N6G5	CGAT2_HUMAN	F	362	ENSP00000363590:L362F	ENSP00000363590:L362F	L	+	3	2	CSGALNACT2	42979425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.683000	0.37638	2.894000	0.99253	0.591000	0.81541	TTG	.		0.433	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590	
WDFY4	57705	broad.mit.edu	37	10	49934020	49934020	+	Missense_Mutation	SNP	G	G	A	rs34731704	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr10:49934020G>A	ENST00000325239.5	+	5	713	c.686G>A	c.(685-687)cGg>cAg	p.R229Q	WDFY4_ENST00000360890.2_Missense_Mutation_p.R229Q|WDFY4_ENST00000413659.2_Missense_Mutation_p.R229Q	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	229						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						ACCTGCCTTCGGGAGCACAGC	0.552													G|||	16	0.00319489	0.0	0.0014	5008	,	,		21070	0.0		0.0109	False		,,,				2504	0.0041				p.R229Q		.											.	WDFY4-22	0			c.G686A						.	G	GLN/ARG	2,1382		0,2,690	60.0	55.0	57.0		686	4.9	1.0	10	dbSNP_126	57	27,3155		1,25,1565	yes	missense	WDFY4	NM_020945.1	43	1,27,2255	AA,AG,GG		0.8485,0.1445,0.6351	probably-damaging	229/3185	49934020	29,4537	692	1591	2283	SO:0001583	missense	57705	exon6			GCCTTCGGGAGCA	AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.686G>A	10.37:g.49934020G>A	ENSP00000320563:p.Arg229Gln	119	0		90	5	NM_020945	0	0	0	0	0	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	ENST00000325239.5	37	CCDS44385.1	11	0.005036630036630037	0	0.0	1	0.0027624309392265192	0	0.0	10	0.013192612137203167	G	19.68	3.872629	0.72180	0.001445	0.008485	ENSG00000128815	ENST00000360890;ENST00000454161;ENST00000426033;ENST00000325239;ENST00000413659	T;T;T	0.28895	1.59;1.59;1.59	5.84	4.93	0.64822	.	.	.	.	.	T	0.23572	0.0570	M	0.68317	2.08	0.28638	N	0.907295	P;D	0.57571	0.94;0.98	B;B	0.38106	0.147;0.265	T	0.19614	-1.0300	9	0.31617	T	0.26	.	14.1331	0.65268	0.0719:0.0:0.928:0.0	rs34731704	229;229	Q6ZS81;Q6ZS81-2	WDFY4_HUMAN;.	Q	229;238;229;229;229	ENSP00000354141:R229Q;ENSP00000320563:R229Q;ENSP00000403789:R229Q	ENSP00000320563:R229Q	R	+	2	0	WDFY4	49604026	1.000000	0.71417	0.961000	0.40146	0.976000	0.68499	4.512000	0.60469	1.476000	0.48215	0.561000	0.74099	CGG	G|0.993;A|0.007		0.552	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_033379	
PALD1	27143	bcgsc.ca	37	10	72293713	72293713	+	Silent	SNP	C	C	T	rs12764399	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr10:72293713C>T	ENST00000263563.6	+	8	1174	c.906C>T	c.(904-906)caC>caT	p.H302H		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	302						cytosol (GO:0005829)		p.H302Q(1)									GTGATGCCCACGGGCCTCCCC	0.662													C|||	422	0.0842652	0.0371	0.0821	5008	,	,		18070	0.003		0.1392	False		,,,				2504	0.1769				p.H302H		.											.	.	1	Substitution - Missense(1)	lung(1)	c.C906T						.	C		243,4163	136.9+/-172.8	6,231,1966	37.0	34.0	35.0		906	-8.8	0.0	10	dbSNP_121	35	1389,7211	258.8+/-282.3	121,1147,3032	no	coding-synonymous	KIAA1274	NM_014431.2		127,1378,4998	TT,TC,CC		16.1512,5.5152,12.5481		302/857	72293713	1632,11374	2203	4300	6503	SO:0001819	synonymous_variant	27143	exon8			TGCCCACGGGCCT	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.906C>T	10.37:g.72293713C>T		113	0		208	7	NM_014431	0	0	0	0	0	B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Silent	SNP	ENST00000263563.6	37	CCDS31215.1																																																																																			C|0.893;T|0.107		0.662	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431	
TBC1D12	23232	hgsc.bcm.edu	37	10	96163039	96163039	+	Silent	SNP	C	C	G	rs2477534	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr10:96163039C>G	ENST00000225235.4	+	1	779	c.669C>G	c.(667-669)ccC>ccG	p.P223P		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	223							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GGGACAGCCCCGCCAGCAGCT	0.751													G|||	3411	0.68111	0.6165	0.5648	5008	,	,		8936	0.8373		0.6342	False		,,,				2504	0.7382				p.P223P		.											.	TBC1D12-68	0			c.C669G						.	G		1895,863		709,477,193	2.0	3.0	3.0		669	-2.0	0.0	10	dbSNP_100	3	4435,1895		1664,1107,394	yes	coding-synonymous	TBC1D12	NM_015188.1		2373,1584,587	GG,GC,CC		29.9368,31.2908,30.3477		223/776	96163039	6330,2758	1379	3165	4544	SO:0001819	synonymous_variant	23232	exon1			CAGCCCCGCCAGC	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.669C>G	10.37:g.96163039C>G		1	1		4	4	NM_015188	0	0	0	0	0	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Silent	SNP	ENST00000225235.4	37	CCDS41553.1																																																																																			C|0.339;G|0.661		0.751	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2		
PNPLA2	57104	hgsc.bcm.edu	37	11	824624	824624	+	Missense_Mutation	SNP	A	A	G	rs140634178	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr11:824624A>G	ENST00000336615.4	+	10	1479	c.1277A>G	c.(1276-1278)aAc>aGc	p.N426S	EFCAB4A_ENST00000528542.2_5'Flank|AP006621.8_ENST00000528982.1_RNA|AP006621.8_ENST00000532946.1_RNA|EFCAB4A_ENST00000450448.1_5'Flank	NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	426					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of sequestering of triglyceride (GO:0010891)|phospholipid metabolic process (GO:0006644)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGCGCAACAACCTCTCGCTG	0.706													A|||	4	0.000798722	0.0015	0.0014	5008	,	,		11584	0.0		0.001	False		,,,				2504	0.0				p.N426S		.											.	PNPLA2-90	0			c.A1277G						.	A	SER/ASN	4,4366		0,4,2181	12.0	15.0	14.0		1277	-3.8	0.8	11	dbSNP_134	14	17,8563		0,17,4273	yes	missense	PNPLA2	NM_020376.3	46	0,21,6454	GG,GA,AA		0.1981,0.0915,0.1622	benign	426/505	824624	21,12929	2185	4290	6475	SO:0001583	missense	57104	exon10			GCAACAACCTCTC	AJ278475	CCDS7718.1	11p15.5	2014-03-14			ENSG00000177666	ENSG00000177666	3.1.1.3	"""Patatin-like phospholipase domain containing"""	30802	protein-coding gene	gene with protein product		609059				8619474, 16799181, 19029121	Standard	NM_020376		Approved	desnutrin, TTS-2.2, ATGL, FP17548, iPLA2zeta	uc001lrt.3	Q96AD5	OTTHUMG00000133309	ENST00000336615.4:c.1277A>G	11.37:g.824624A>G	ENSP00000337701:p.Asn426Ser	0	0		52	6	NM_020376	0	0	42	43	1	O60643|Q5EFF5|Q6XYE5|Q96ET6|Q9NQ61|Q9NQ62	Missense_Mutation	SNP	ENST00000336615.4	37	CCDS7718.1	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	0	0.0	1	0.0013192612137203166	A	3.377	-0.127127	0.06795	9.15E-4	0.001981	ENSG00000177666	ENST00000336615	T	0.30182	1.54	4.59	-3.83	0.04269	.	0.351400	0.32703	N	0.005751	T	0.08846	0.0219	N	0.16743	0.435	0.28228	N	0.926257	B	0.12013	0.005	B	0.08055	0.003	T	0.36672	-0.9738	10	0.02654	T	1	-24.2781	12.0877	0.53706	0.4846:0.0:0.5154:0.0	.	426	Q96AD5	PLPL2_HUMAN	S	426	ENSP00000337701:N426S	ENSP00000337701:N426S	N	+	2	0	PNPLA2	814624	0.937000	0.31787	0.802000	0.32245	0.054000	0.15201	0.354000	0.20146	-0.854000	0.04131	-1.369000	0.01192	AAC	A|0.998;G|0.002		0.706	PNPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257106.1	NM_020376	
MUC2	4583	bcgsc.ca	37	11	1093094	1093094	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr11:1093094T>G	ENST00000441003.2	+	30	4940	c.4913T>G	c.(4912-4914)gTg>gGg	p.V1638G	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.V1605G|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.V1605G(1)|p.V1638G(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	accactacggtgaccccaacc	0.627																																					p.V1638G		.											.	MUC2-90	2	Substitution - Missense(2)	lung(2)	c.T4913G						.						70.0	127.0	107.0					11																	1093094		1817	3454	5271	SO:0001583	missense	4583	exon30			CTACGGTGACCCC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4913T>G	11.37:g.1093094T>G	ENSP00000415183:p.Val1638Gly	121	3		98	20	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	T	2.324	-0.355023	0.05138	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.14022	2.54;3.16	1.66	-3.31	0.04988	.	0.262594	0.13470	U	0.385509	T	0.06462	0.0166	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.29822	-0.9999	9	0.41790	T	0.15	.	0.1958	0.00139	0.2143:0.1839:0.2436:0.3582	.	1638	E7EUV1	.	G	1638;1605	ENSP00000415183:V1638G;ENSP00000351956:V1605G	ENSP00000351956:V1605G	V	+	2	0	MUC2	1083094	0.003000	0.15002	0.000000	0.03702	0.171000	0.22731	1.577000	0.36515	-1.792000	0.01259	0.102000	0.15555	GTG	.		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
SYT8	90019	hgsc.bcm.edu	37	11	1858572	1858572	+	Missense_Mutation	SNP	C	C	T	rs2292474	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr11:1858572C>T	ENST00000381968.3	+	9	1245	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	TNNI2_ENST00000381905.3_5'Flank|TNNI2_ENST00000381911.1_5'Flank|TNNI2_ENST00000252898.7_5'Flank|TNNI2_ENST00000381906.1_5'Flank|SYT8_ENST00000341958.3_Missense_Mutation_p.R359W|SYT8_ENST00000535046.1_3'UTR	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	373					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CATTGCCCAGCGGCACCCCCT	0.731													T|||	1928	0.384984	0.1679	0.415	5008	,	,		13483	0.378		0.498	False		,,,				2504	0.5481				p.R373W		.											.	SYT8-91	0			c.C1117T						.	T	TRP/ARG	906,3442		119,668,1387	12.0	14.0	14.0		1117	2.7	1.0	11	dbSNP_100	14	4072,4398		1026,2020,1189	no	missense	SYT8	NM_138567.3	101	1145,2688,2576	TT,TC,CC		48.0756,20.8372,38.836	benign	373/402	1858572	4978,7840	2174	4235	6409	SO:0001583	missense	90019	exon9			GCCCAGCGGCACC	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"""Synaptotagmins"""	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.1117C>T	11.37:g.1858572C>T	ENSP00000371394:p.Arg373Trp	0	0		6	6	NM_138567	0	0	0	0	0	A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	CCDS7726.2	855|855	0.3914835164835165|0.3914835164835165	84|84	0.17073170731707318|0.17073170731707318	163|163	0.45027624309392267|0.45027624309392267	226|226	0.3951048951048951|0.3951048951048951	382|382	0.503957783641161|0.503957783641161	t|t	1.107|1.107	-0.659353|-0.659353	0.03454|0.03454	0.208372|0.208372	0.480756|0.480756	ENSG00000149043|ENSG00000149043	ENST00000381978|ENST00000381968;ENST00000341958	.|T;T	.|0.03951	.|3.77;3.75	3.85|3.85	2.68|2.68	0.31781|0.31781	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00005|0.00005	-3.275|-3.275	0.09310|0.09310	P|P	1.0|1.0	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.41928|0.41928	-0.9481|-0.9481	4|8	.|0.02654	.|T	.|1	.|.	8.5203|8.5203	0.33270|0.33270	0.0:0.1655:0.0:0.8345|0.0:0.1655:0.0:0.8345	rs2292474|rs2292474	.|373;359	.|Q8NBV8;A6NCR4	.|SYT8_HUMAN;.	V|W	371|373;359	.|ENSP00000371394:R373W;ENSP00000343691:R359W	.|ENSP00000343691:R359W	A|R	+|+	2|1	0|2	SYT8|SYT8	1815148|1815148	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.293000|0.293000	0.27360|0.27360	3.304000|3.304000	0.51866|0.51866	0.174000|0.174000	0.19809|0.19809	-0.665000|-0.665000	0.03846|0.03846	GCG|CGG	C|0.602;T|0.398		0.731	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4		
TRIM22	10346	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	5730589	5730589	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr11:5730589C>G	ENST00000379965.3	+	8	1485	c.1208C>G	c.(1207-1209)cCt>cGt	p.P403R	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	403	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AGATATAGACCTCAATATGGC	0.368																																					p.P403R	GBM(104;491 2336 5222)	.											.	TRIM22-90	0			c.C1208G						.						81.0	89.0	87.0					11																	5730589		2048	4219	6267	SO:0001583	missense	10346	exon8			ATAGACCTCAATA	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1208C>G	11.37:g.5730589C>G	ENSP00000369299:p.Pro403Arg	70	0		70	58	NM_006074	0	0	0	2	2	Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268972	0.80469	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000455293	T	0.70749	-0.51	3.78	3.78	0.43462	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.87928	0.6301	H	0.95780	3.72	0.38029	D	0.935103	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.92221	0.5784	9	0.66056	D	0.02	.	13.9173	0.63908	0.0:1.0:0.0:0.0	.	325;399;403	F8WAP8;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	R	403;214;325	ENSP00000369299:P403R	ENSP00000369299:P403R	P	+	2	0	TRIM22	5687165	0.067000	0.21026	0.045000	0.18777	0.647000	0.38526	1.942000	0.40243	2.062000	0.61559	0.467000	0.42956	CCT	.		0.368	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074	
CD82	3732	bcgsc.ca	37	11	44636839	44636839	+	Silent	SNP	C	C	T	rs883752	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr11:44636839C>T	ENST00000227155.4	+	7	602	c.354C>T	c.(352-354)ggC>ggT	p.G118G	CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Silent_p.G93G	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	118						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				large_intestine(1)|ovary(1)	2						AGGAGATGGGCGGCATCGTGA	0.612													C|||	1143	0.228235	0.1014	0.17	5008	,	,		19655	0.2748		0.34	False		,,,				2504	0.2781				p.G118G		.											.	CD82-227	0			c.C354T						.	C	,	619,3787	269.5+/-269.1	45,529,1629	73.0	60.0	64.0		279,354	-3.8	0.0	11	dbSNP_86	64	2968,5630	459.1+/-364.8	521,1926,1852	no	coding-synonymous,coding-synonymous	CD82	NM_001024844.1,NM_002231.3	,	566,2455,3481	TT,TC,CC		34.5197,14.049,27.5838	,	93/243,118/268	44636839	3587,9417	2203	4299	6502	SO:0001819	synonymous_variant	3732	exon7			GATGGGCGGCATC	U20770	CCDS7909.1, CCDS31469.1	11p11.2	2013-02-14	2006-03-28	2005-03-03		ENSG00000085117		"""CD molecules"", ""Tetraspanins"""	6210	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 6"", ""R2 leukocyte antigen"""	600623	"""kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))"", ""CD82 antigen"""	ST6, KAI1			Standard	XM_006718222		Approved	R2, IA4, TSPAN27	uc001myc.3	P27701		ENST00000227155.4:c.354C>T	11.37:g.44636839C>T		552	6		512	15	NM_002231	0	0	10	10	0	D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2	Silent	SNP	ENST00000227155.4	37	CCDS7909.1																																																																																			C|0.739;N|0.000		0.612	CD82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389886.1		
AHNAK	79026	hgsc.bcm.edu	37	11	62296271	62296271	+	Missense_Mutation	SNP	G	G	A	rs145366859		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr11:62296271G>A	ENST00000378024.4	-	5	5892	c.5618C>T	c.(5617-5619)gCg>gTg	p.A1873V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1873					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CGACACATCCGCATCCCCTTT	0.527													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20490	0.0		0.0	False		,,,				2504	0.0				p.A1873V		.											.	AHNAK-109	0			c.C5618T						.						172.0	183.0	180.0					11																	62296271		2202	4299	6501	SO:0001583	missense	79026	exon5			ACATCCGCATCCC	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5618C>T	11.37:g.62296271G>A	ENSP00000367263:p.Ala1873Val	145	1		136	7	NM_001620	0	0	0	0	0	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-2.949678	0.00051	.	.	ENSG00000124942	ENST00000378024	T	0.00575	6.46	2.9	-2.39	0.06602	.	.	.	.	.	T	0.00109	0.0003	N	0.00014	-2.905	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40572	-0.9556	9	0.10636	T	0.68	.	3.1847	0.06597	0.5283:0.0:0.1107:0.361	.	1873	Q09666	AHNK_HUMAN	V	1873	ENSP00000367263:A1873V	ENSP00000367263:A1873V	A	-	2	0	AHNAK	62052847	0.128000	0.22383	0.001000	0.08648	0.017000	0.09413	1.559000	0.36320	-0.772000	0.04602	-0.848000	0.03037	GCG	G|1.000;A|0.000		0.527	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
KRTAP5-7	440050	bcgsc.ca	37	11	71238705	71238705	+	Missense_Mutation	SNP	G	G	A	rs536797652		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr11:71238705G>A	ENST00000398536.4	+	1	393	c.359G>A	c.(358-360)tGc>tAc	p.C120Y		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	120	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.C120Y(2)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						tgtaagccctgctgctgccag	0.607													g|||	1	0.000199681	0.0008	0.0	5008	,	,		20154	0.0		0.0	False		,,,				2504	0.0				p.C120Y		.											.	KRTAP5-7-68	2	Substitution - Missense(2)	kidney(2)	c.G359A						.						129.0	139.0	136.0					11																	71238705		2200	4294	6494	SO:0001583	missense	440050	exon1			AGCCCTGCTGCTG	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.359G>A	11.37:g.71238705G>A	ENSP00000417330:p.Cys120Tyr	203	5		199	15	NM_001012503	0	0	0	0	0	B2RNM3|Q701N5	Missense_Mutation	SNP	ENST00000398536.4	37	CCDS41682.1	.	.	.	.	.	.	.	.	.	.	N	4.462	0.085611	0.08583	.	.	ENSG00000244411	ENST00000398536	T	0.01304	5.03	1.87	1.87	0.25490	.	.	.	.	.	T	0.01421	0.0046	L	0.60455	1.87	0.26143	N	0.980242	B	0.12630	0.006	B	0.08055	0.003	T	0.51733	-0.8668	9	0.02654	T	1	.	4.3831	0.11304	0.201:0.0:0.799:0.0	.	120	Q6L8G8	KRA57_HUMAN	Y	120	ENSP00000417330:C120Y	ENSP00000417330:C120Y	C	+	2	0	KRTAP5-7	70916353	0.718000	0.27976	0.999000	0.59377	0.075000	0.17131	2.143000	0.42187	1.367000	0.46095	0.289000	0.19496	TGC	.		0.607	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1		
FAM86C1	55199	hgsc.bcm.edu	37	11	71498671	71498671	+	Missense_Mutation	SNP	G	G	C	rs12283346	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr11:71498671G>C	ENST00000359244.4	+	1	112	c.89G>C	c.(88-90)cGc>cCc	p.R30P	FAM86C1_ENST00000426628.2_Missense_Mutation_p.R30P|FAM86C1_ENST00000346333.6_Missense_Mutation_p.R30P	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	30			R -> P (in dbSNP:rs12283346). {ECO:0000269|PubMed:14702039}.							lung(1)	1						CGCTCCTTCCGCTGGCAGGTG	0.741													.|||	2261	0.451478	0.3351	0.3516	5008	,	,		10448	0.3452		0.5666	False		,,,				2504	0.6708				p.R30P		.											.	FAM86C1-90	0			c.G89C						.						3.0	3.0	3.0					11																	71498671		1774	3427	5201	SO:0001583	missense	55199	exon1			CCTTCCGCTGGCA	AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"""family with sequence similarity 86, member C"""	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.89G>C	11.37:g.71498671G>C	ENSP00000352182:p.Arg30Pro	0	0		5	5	NM_152563	0	0	0	0	0	Q8N5D3	Missense_Mutation	SNP	ENST00000359244.4	37	CCDS41686.1	871	0.39880952380952384	166	0.33739837398373984	136	0.3756906077348066	173	0.30244755244755245	396	0.5224274406332454	.	1.506	-0.550640	0.03996	.	.	ENSG00000158483	ENST00000346333;ENST00000359244;ENST00000426628;ENST00000528685	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	2.47	2.47	0.30058	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	4.000000000004E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.44483	-0.9325	7	0.02654	T	1	.	7.3824	0.26864	0.0:0.7256:0.2744:0.0	rs12283346	30;30;30	G3V0F7;Q9NVL1-2;Q9NVL1	.;.;FA86C_HUMAN	P	30	ENSP00000325662:R30P;ENSP00000352182:R30P;ENSP00000391329:R30P;ENSP00000436598:R30P	ENSP00000325662:R30P	R	+	2	0	FAM86C1	71176319	0.633000	0.27181	0.784000	0.31847	0.041000	0.13682	0.888000	0.28268	0.155000	0.19261	-1.123000	0.02005	CGC	G|0.601;C|0.399		0.741	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563	
ARHGEF17	9828	hgsc.bcm.edu	37	11	73020058	73020058	+	Silent	SNP	C	C	T	rs12272360	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr11:73020058C>T	ENST00000263674.3	+	1	725	c.375C>T	c.(373-375)agC>agT	p.S125S	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	125					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCTGGCCCAGCGTCACCGAGA	0.736													c|||	455	0.0908546	0.2141	0.062	5008	,	,		11497	0.002		0.0964	False		,,,				2504	0.0307				p.S125S		.											.	ARHGEF17-227	0			c.C375T						.		,	414,2368		29,356,1006	3.0	2.0	3.0		375,333	2.8	1.0	11	dbSNP_120	3	395,5105		17,361,2372	no	coding-synonymous,coding-synonymous	ARHGEF17,LOC100287837	NM_014786.3,XM_002343116.2	,	46,717,3378	TT,TC,CC		7.1818,14.8814,9.7682	,	125/2064,111/450	73020058	809,7473	1391	2750	4141	SO:0001819	synonymous_variant	9828	exon1			GCCCAGCGTCACC	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.375C>T	11.37:g.73020058C>T		0	0		6	6	NM_014786	0	0	0	0	0	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	CCDS8221.1																																																																																			C|0.906;T|0.094		0.736	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786	
WNT11	7481	hgsc.bcm.edu	37	11	75917419	75917419	+	Silent	SNP	C	C	G	rs138104027		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr11:75917419C>G	ENST00000322563.3	-	1	157	c.33G>C	c.(31-33)ctG>ctC	p.L11L	WNT11_ENST00000532150.1_5'Flank	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	11					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GGGCGAAGAGCAGCGCCTCGC	0.746													C|||	1	0.000199681	0.0	0.0014	5008	,	,		11588	0.0		0.0	False		,,,				2504	0.0				p.L11L		.											.	WNT11-562	0			c.G33C						.	C		13,4291		0,13,2139	10.0	9.0	9.0		33	-0.5	1.0	11	dbSNP_134	9	3,8433		0,3,4215	no	coding-synonymous	WNT11	NM_004626.2		0,16,6354	GG,GC,CC		0.0356,0.302,0.1256		11/355	75917419	16,12724	2152	4218	6370	SO:0001819	synonymous_variant	7481	exon1			GAAGAGCAGCGCC	Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"""Wingless-type MMTV integration sites"""	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.33G>C	11.37:g.75917419C>G		3	1		27	25	NM_004626	0	0	0	0	0	B2R8Z6|Q14DE8|Q8WZ98	Silent	SNP	ENST00000322563.3	37	CCDS8242.1																																																																																			C|0.997;G|0.003		0.746	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626	
CTSC	1075	broad.mit.edu	37	11	88068252	88068252	+	Splice_Site	SNP	T	T	A			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr11:88068252T>A	ENST00000227266.5	-	2	287		c.e2-2		CTSC_ENST00000393301.4_Splice_Site|CTSC_ENST00000529974.1_Splice_Site|CTSC_ENST00000524463.1_Splice_Site	NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C						aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTTGTGGTCCTAAAGAAAAAA	0.348																																					.		.											.	CTSC-90	0			c.173-2A>T						.						56.0	58.0	57.0					11																	88068252		2200	4299	6499	SO:0001630	splice_region_variant	1075	exon3			TGGTCCTAAAGAA	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.173-2A>T	11.37:g.88068252T>A		14	0		16	4	NM_001814	0	0	0	0	0	A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Splice_Site	SNP	ENST00000227266.5	37	CCDS8282.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.587751	0.66105	.	.	ENSG00000109861	ENST00000393302;ENST00000227266;ENST00000527018;ENST00000524463;ENST00000529974	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7534	0.62921	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTSC	87707900	1.000000	0.71417	0.982000	0.44146	0.739000	0.42172	6.878000	0.75567	2.228000	0.72767	0.533000	0.62120	.	.		0.348	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814	Intron
TMPRSS5	80975	bcgsc.ca	37	11	113570405	113570405	+	Silent	SNP	T	T	C	rs4936280	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr11:113570405T>C	ENST00000299882.5	-	3	265	c.117A>G	c.(115-117)gcA>gcG	p.A39A	TMPRSS5_ENST00000536856.1_Intron|TMPRSS5_ENST00000538955.1_5'UTR|TMPRSS5_ENST00000544476.1_5'UTR|TMPRSS5_ENST00000545579.1_Silent_p.A30A|TMPRSS5_ENST00000540540.1_Intron|TMPRSS5_ENST00000544634.1_Silent_p.A39A	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	39					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		GCCAGCACACTGCCTGAGAAA	0.632													N|||	3860	0.770767	0.9675	0.7565	5008	,	,		17135	0.749		0.6352	False		,,,				2504	0.6769				p.A39A		.											.	TMPRSS5-1	0			c.A117G						.			3913,343		1805,303,20	17.0	23.0	21.0		117	-8.1	0.0	11	dbSNP_111	21	5521,2935		1793,1935,500	no	coding-synonymous	TMPRSS5	NM_030770.2		3598,2238,520	CC,CT,TT		34.7091,8.0592,25.7867		39/458	113570405	9434,3278	2128	4228	6356	SO:0001819	synonymous_variant	80975	exon3			GCACACTGCCTGA	AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"""Serine peptidases / Transmembrane"""	14908	protein-coding gene	gene with protein product	"""spinesin"""	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.117A>G	11.37:g.113570405T>C		321	0		298	12	NM_030770	0	0	0	0	0		Silent	SNP	ENST00000299882.5	37	CCDS44735.1																																																																																			T|0.231;C|0.769		0.632	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1	NM_030770	
OR10G4	390264	bcgsc.ca	37	11	123886865	123886865	+	Missense_Mutation	SNP	T	T	A	rs386758379|rs4084209	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr11:123886865T>A	ENST00000320891.4	+	1	584	c.584T>A	c.(583-585)gTg>gAg	p.V195E		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	195			V -> E (in dbSNP:rs4084209).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCAGCCAACGTGATGGTCATC	0.542													t|||	3308	0.660543	0.5083	0.7997	5008	,	,		22182	0.7232		0.7276	False		,,,				2504	0.6339				p.V195E		.											.	OR10G4-93	0			c.T584A						.	A	GLU/VAL	2477,1925	624.1+/-394.3	704,1069,428	261.0	206.0	225.0		584	3.3	0.9	11	dbSNP_108	225	6562,2036	720.4+/-406.3	2505,1552,242	no	missense	OR10G4	NM_001004462.1	121	3209,2621,670	AA,AT,TT		23.6799,43.7301,30.4692	benign	195/312	123886865	9039,3961	2201	4299	6500	SO:0001583	missense	390264	exon1			CCAACGTGATGGT	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.584T>A	11.37:g.123886865T>A	ENSP00000325076:p.Val195Glu	590	5		466	16	NM_001004462	0	0	0	0	0	Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	CCDS31702.1	1515	0.6936813186813187	246	0.5	286	0.7900552486187845	433	0.756993006993007	550	0.7255936675461742	t	0.001	-3.072604	0.00036	0.562699	0.763201	ENSG00000254737	ENST00000320891	T	0.00017	9.09	3.33	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	N	0.000244	T	0.00012	0.0000	N	0.00068	-2.29	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44205	-0.9343	9	0.02654	T	1	.	2.8812	0.05648	0.6588:0.0:0.1214:0.2198	rs4084209;rs4084209	195	Q8NGN3	O10G4_HUMAN	E	195	ENSP00000325076:V195E	ENSP00000325076:V195E	V	+	2	0	OR10G4	123392075	0.000000	0.05858	0.851000	0.33527	0.004000	0.04260	0.614000	0.24314	0.483000	0.27608	-0.354000	0.07668	GTG	.		0.542	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462	
TAS2R43	259289	hgsc.bcm.edu	37	12	11244723	11244723	+	Missense_Mutation	SNP	A	A	C	rs191086711	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr12:11244723A>C	ENST00000531678.1	-	1	189	c.106T>G	c.(106-108)Ttc>Gtc	p.F36V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	36					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TGTCTCTTGAACCACTCAATG	0.388																																					p.F36V		.											.	TAS2R43-1	0			c.T106G						.						46.0	40.0	42.0					12																	11244723		1873	3600	5473	SO:0001583	missense	259289	exon1			TCTTGAACCACTC	AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.106T>G	12.37:g.11244723A>C	ENSP00000431719:p.Phe36Val	90	2		160	14	NM_176884	0	0	0	0	0	P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	CCDS53749.1	687	0.31456043956043955	110	0.22357723577235772	143	0.39502762430939226	131	0.229020979020979	303	0.3997361477572559	-	0.001	-3.175861	0.00027	.	.	ENSG00000255374	ENST00000531678	T	0.00638	6.04	1.97	-0.475	0.12104	.	.	.	.	.	T	0.00012	0.0000	N	0.00049	-2.42	0.20196	N	0.999928	B	0.02656	0.0	B	0.01281	0.0	T	0.35251	-0.9796	9	0.02654	T	1	.	3.94	0.09323	0.2767:0.459:0.2643:0.0	.	36	P59537	T2R43_HUMAN	V	36	ENSP00000431719:F36V	ENSP00000431719:F36V	F	-	1	0	TAS2R43	11135990	0.011000	0.17503	0.283000	0.24790	0.074000	0.17049	-1.491000	0.02302	-0.282000	0.09128	-1.429000	0.01096	TTC	A|0.676;C|0.324		0.388	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884	
BCL2L14	79370	bcgsc.ca	37	12	12247852	12247852	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr12:12247852G>T	ENST00000308721.5	+	5	1139	c.933G>T	c.(931-933)caG>caT	p.Q311H	BCL2L14_ENST00000396367.1_Missense_Mutation_p.Q311H|BCL2L14_ENST00000586576.1_Missense_Mutation_p.Q344H|BCL2L14_ENST00000266434.4_3'UTR|BCL2L14_ENST00000589718.1_Missense_Mutation_p.Q311H|BCL2L14_ENST00000396369.1_Intron	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	311					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GGATCCAGCAGCACGGTGGAT	0.443																																					p.Q311H		.											.	BCL2L14-227	0			c.G933T						.						48.0	43.0	45.0					12																	12247852		2203	4300	6503	SO:0001583	missense	79370	exon5			CCAGCAGCACGGT	AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.933G>T	12.37:g.12247852G>T	ENSP00000309132:p.Gln311His	39	0		69	4	NM_138723	0	0	0	0	0	A8KAD0|Q96QR5|Q9BZR7	Missense_Mutation	SNP	ENST00000308721.5	37	CCDS8645.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660858	0.29515	.	.	ENSG00000121380	ENST00000308721;ENST00000396367	T;T	0.34472	1.36;1.36	4.73	3.83	0.44106	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (1);	0.336851	0.27202	N	0.020456	T	0.55114	0.1900	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56780	-0.7922	10	0.66056	D	0.02	-24.8485	7.2957	0.26391	0.0945:0.1714:0.734:0.0	.	311	Q9BZR8	B2L14_HUMAN	H	311	ENSP00000309132:Q311H;ENSP00000379653:Q311H	ENSP00000309132:Q311H	Q	+	3	2	BCL2L14	12139119	1.000000	0.71417	0.998000	0.56505	0.064000	0.16182	1.771000	0.38542	1.308000	0.44962	-0.136000	0.14681	CAG	.		0.443	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355994.3	NM_030766	
TUBA1C	84790	ucsc.edu	37	12	49666152	49666152	+	Silent	SNP	G	G	A	rs199599214	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr12:49666152G>A	ENST00000301072.6	+	4	767	c.492G>A	c.(490-492)aaG>aaA	p.K164K	TUBA1C_ENST00000541364.1_Silent_p.K234K|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	164					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.K164K(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						ATGGCAAGAAGTCCAAGCTGG	0.547																																					p.K164K		.											.	TUBA1C-90	1	Substitution - coding silent(1)	large_intestine(1)	c.G492A						.						56.0	58.0	57.0					12																	49666152		2203	4300	6503	SO:0001819	synonymous_variant	84790	exon4			CAAGAAGTCCAAG	BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.492G>A	12.37:g.49666152G>A		242	11		373	15	NM_032704	0	0	227	344	117		Silent	SNP	ENST00000301072.6	37	CCDS8782.1																																																																																			G|0.998;A|0.002		0.547	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404424.1	NM_032704	
PLXNC1	10154	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	94641749	94641749	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr12:94641749C>T	ENST00000258526.4	+	13	2708	c.2459C>T	c.(2458-2460)aCg>aTg	p.T820M		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	820					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAAGTGCGCACGAATGTCACT	0.468																																					p.T820M		.											.	PLXNC1-92	0			c.C2459T						.						109.0	108.0	108.0					12																	94641749		2203	4300	6503	SO:0001583	missense	10154	exon13			TGCGCACGAATGT	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2459C>T	12.37:g.94641749C>T	ENSP00000258526:p.Thr820Met	122	0		207	100	NM_005761	0	0	0	0	0	Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	9.161	1.018651	0.19355	.	.	ENSG00000136040	ENST00000258526	T	0.76316	-1.01	6.16	3.24	0.37175	Cell surface receptor IPT/TIG (2);	1.022980	0.07707	N	0.941427	T	0.62392	0.2424	N	0.19112	0.55	0.09310	N	0.999999	B	0.24092	0.097	B	0.19148	0.024	T	0.51560	-0.8690	10	0.40728	T	0.16	.	5.3185	0.15868	0.2234:0.6164:0.0:0.1601	.	820	O60486	PLXC1_HUMAN	M	820	ENSP00000258526:T820M	ENSP00000258526:T820M	T	+	2	0	PLXNC1	93165880	0.001000	0.12720	0.001000	0.08648	0.150000	0.21749	1.031000	0.30165	0.941000	0.37499	0.650000	0.86243	ACG	.		0.468	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2		
TMEM119	338773	hgsc.bcm.edu	37	12	108986112	108986112	+	Silent	SNP	G	G	C	rs10861953	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr12:108986112G>C	ENST00000392806.3	-	2	216	c.48C>G	c.(46-48)ctC>ctG	p.L16L		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	16					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CAGACCCCAGGAGCAGCAACA	0.662													G|||	986	0.196885	0.1384	0.1297	5008	,	,		16113	0.256		0.1759	False		,,,				2504	0.2843				p.L16L		.											.	TMEM119-69	0			c.C48G						.	G		571,3727		46,479,1624	10.0	11.0	11.0		48	0.4	0.1	12	dbSNP_120	11	1365,6937		115,1135,2901	no	coding-synonymous	TMEM119	NM_181724.2		161,1614,4525	CC,CG,GG		16.4418,13.2852,15.3651		16/284	108986112	1936,10664	2149	4151	6300	SO:0001819	synonymous_variant	338773	exon2			CCCCAGGAGCAGC	AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.48C>G	12.37:g.108986112G>C		3	1		8	5	NM_181724	0	0	1	1	0	Q6UXE5|Q8N2F5	Silent	SNP	ENST00000392806.3	37	CCDS9119.1																																																																																			G|0.822;C|0.178		0.662	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403900.1	NM_181724	
ATP2A2	488	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	110765566	110765566	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr12:110765566A>G	ENST00000539276.2	+	8	948	c.839A>G	c.(838-840)aAt>aGt	p.N280S	ATP2A2_ENST00000395494.2_Missense_Mutation_p.N253S|ATP2A2_ENST00000308664.6_Missense_Mutation_p.N280S			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	280					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GGGCACTTCAATGACCCGGTT	0.463																																					p.N280S		.											.	ATP2A2-94	0			c.A839G						.						109.0	111.0	110.0					12																	110765566		2203	4300	6503	SO:0001583	missense	488	exon8			ACTTCAATGACCC		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.839A>G	12.37:g.110765566A>G	ENSP00000440045:p.Asn280Ser	74	0		131	63	NM_001681	0	0	3	3	0	A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.791852	0.50102	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.88124	-2.34;-2.34;-2.34	5.48	5.48	0.80851	ATPase, P-type, ATPase-associated domain (1);	0.122605	0.85682	D	0.000000	T	0.74959	0.3785	N	0.08118	0	0.80722	D	1	B;B;B	0.15930	0.015;0.001;0.001	B;B;B	0.17979	0.02;0.002;0.003	T	0.70163	-0.4947	10	0.14252	T	0.57	.	15.9151	0.79508	1.0:0.0:0.0:0.0	.	253;280;280	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	S	280;253;280	ENSP00000311186:N280S;ENSP00000378872:N253S;ENSP00000440045:N280S	ENSP00000311186:N280S	N	+	2	0	ATP2A2	109249949	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.450000	0.80656	2.213000	0.71641	0.477000	0.44152	AAT	.		0.463	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681	
TPTE2	93492	bcgsc.ca	37	13	20000609	20000609	+	Missense_Mutation	SNP	C	C	T	rs141691551	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr13:20000609C>T	ENST00000400230.2	-	18	1395	c.1351G>A	c.(1351-1353)Ggt>Agt	p.G451S	TPTE2_ENST00000390680.2_Missense_Mutation_p.G374S|TPTE2_ENST00000382975.4_Missense_Mutation_p.G411S|TPTE2_ENST00000382977.4_Missense_Mutation_p.G451S|TPTE2_ENST00000255310.6_Missense_Mutation_p.G374S|TPTE2_ENST00000382978.1_Missense_Mutation_p.G411S|TPTE2_ENST00000457266.2_Missense_Mutation_p.G340S|TPTE2_ENST00000400103.2_Missense_Mutation_p.G340S			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	451	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G451S(1)|p.G374R(1)|p.G374S(1)|p.G451R(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AGAGGTGGACCGTCATATACA	0.338													c|||	18	0.00359425	0.0129	0.0014	5008	,	,		17308	0.0		0.0	False		,,,				2504	0.0				p.G451S		.											.	TPTE2-92	4	Substitution - Missense(4)	prostate(2)|lung(2)	c.G1351A						.	C	SER/GLY,SER/GLY,SER/GLY	59,4347	53.6+/-89.4	0,59,2144	115.0	115.0	115.0		1018,1120,1351	0.8	0.0	13	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	TPTE2	NM_001141968.1,NM_130785.3,NM_199254.2	56,56,56	0,60,6443	TT,TC,CC		0.0116,1.3391,0.4613	benign,benign,benign	340/412,374/446,451/523	20000609	60,12946	2203	4300	6503	SO:0001583	missense	93492	exon19			GTGGACCGTCATA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1351G>A	13.37:g.20000609C>T	ENSP00000383089:p.Gly451Ser	114	2		106	10	NM_199254	0	0	0	0	0	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	c	2.177	-0.388580	0.04932	0.013391	1.16E-4	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	2.06	0.84	0.18912	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.174692	0.50627	D	0.000101	T	0.56673	0.2001	N	0.12746	0.255	0.09310	N	1	B;B;B	0.32829	0.124;0.101;0.386	B;B;B	0.29524	0.064;0.024;0.103	T	0.51803	-0.8659	9	.	.	.	-15.6776	4.9604	0.14063	0.6673:0.3327:0.0:0.0	.	340;374;451	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	S	411;340;451;374;374;451;411;340;451	ENSP00000372438:G411S;ENSP00000382974:G340S;ENSP00000383089:G451S;ENSP00000255310:G374S;ENSP00000375098:G374S;ENSP00000372437:G451S;ENSP00000372435:G411S;ENSP00000442218:G340S	.	G	-	1	0	TPTE2	18898609	0.779000	0.28652	0.004000	0.12327	0.004000	0.04260	1.504000	0.35726	0.231000	0.21079	0.194000	0.17425	GGT	C|0.998;T|0.002		0.338	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	
CLN5	1203	hgsc.bcm.edu	37	13	77566320	77566320	+	Silent	SNP	C	C	G	rs138037471	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr13:77566320C>G	ENST00000377453.3	+	1	1526	c.234C>G	c.(232-234)gcC>gcG	p.A78A	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	29					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		GGTGCTGGGCCCTGGCGCTGC	0.751													C|||	65	0.0129792	0.0038	0.0245	5008	,	,		9947	0.0		0.0338	False		,,,				2504	0.0092				p.A78A		.											.	CLN5-91	0			c.C234G						.	C		32,4234		1,30,2102	9.0	12.0	11.0		234	-0.0	0.0	13	dbSNP_134	11	254,8136		2,250,3943	no	coding-synonymous	CLN5	NM_006493.2		3,280,6045	GG,GC,CC		3.0274,0.7501,2.2598		78/408	77566320	286,12370	2133	4195	6328	SO:0001819	synonymous_variant	1203	exon1			CTGGGCCCTGGCG		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.234C>G	13.37:g.77566320C>G		0	0		6	6	NM_006493	0	0	0	1	1	B3KQK7	Silent	SNP	ENST00000377453.3	37	CCDS9456.1																																																																																			C|0.985;G|0.015		0.751	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493	
IRS2	8660	bcgsc.ca	37	13	110435953	110435953	+	Silent	SNP	A	A	G	rs4773092	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr13:110435953A>G	ENST00000375856.3	-	1	2962	c.2448T>C	c.(2446-2448)tgT>tgC	p.C816C		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	816					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			TGTCCCCGCCACAGGTGTAGG	0.711													.|||	2824	0.563898	0.59	0.7089	5008	,	,		9606	0.4514		0.5905	False		,,,				2504	0.5143				p.C816C	Melanoma(100;613 2409 40847)	.											.	IRS2-1334	0			c.T2448C						.	G		2520,1602		831,858,372	5.0	7.0	6.0		2448	-1.1	0.0	13	dbSNP_111	6	4936,3332		1596,1744,794	no	coding-synonymous	IRS2	NM_003749.2		2427,2602,1166	GG,GA,AA		40.3,38.8646,39.8224		816/1339	110435953	7456,4934	2061	4134	6195	SO:0001819	synonymous_variant	8660	exon1			CCCGCCACAGGTG	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.2448T>C	13.37:g.110435953A>G		18	0		43	40	NM_003749	0	0	0	1	1	Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	ENST00000375856.3	37	CCDS9510.1																																																																																			A|0.452;G|0.548		0.711	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749	
COL4A1	1282	broad.mit.edu	37	13	110861756	110861756	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr13:110861756C>T	ENST00000375820.4	-	11	755	c.634G>A	c.(634-636)Ggc>Agc	p.G212S	COL4A1_ENST00000543140.1_Missense_Mutation_p.G212S	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	212	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGGAGGGCCGGGAGGGCCT	0.413																																					p.G212S		.											.	COL4A1-654	0			c.G634A						.						62.0	76.0	71.0					13																	110861756		2202	4300	6502	SO:0001583	missense	1282	exon11			GAGGGCCGGGAGG	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.634G>A	13.37:g.110861756C>T	ENSP00000364979:p.Gly212Ser	52	1		63	3	NM_001845	0	0	6	6	0	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907139	0.72868	.	.	ENSG00000187498	ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.99329	-5.75;-5.75	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.99629	0.9864	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97729	1.0201	10	0.87932	D	0	.	18.8309	0.92139	0.0:1.0:0.0:0.0	.	212;212	F5H5K0;P02462	.;CO4A1_HUMAN	S	212	ENSP00000364979:G212S;ENSP00000443348:G212S	ENSP00000364979:G212S	G	-	1	0	COL4A1	109659757	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	5.982000	0.70532	2.438000	0.82558	0.643000	0.83706	GGC	.		0.413	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		
UPF3A	65110	hgsc.bcm.edu	37	13	115047496	115047496	+	Splice_Site	SNP	G	G	C	rs76186578		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr13:115047496G>C	ENST00000375299.3	+	2	264	c.208G>C	c.(208-210)Gtg>Ctg	p.V70L	UPF3A_ENST00000351487.5_Splice_Site_p.V70L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	70	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.V70L(4)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		CTCCCCGCAGGTGGTCATCCG	0.731																																					p.V70L		.											.	UPF3A-91	4	Substitution - Missense(4)	skin(2)|upper_aerodigestive_tract(1)|lung(1)	c.G208C						.						3.0	3.0	3.0					13																	115047496		1806	3727	5533	SO:0001630	splice_region_variant	65110	exon2			CCGCAGGTGGTCA	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.208-1G>C	13.37:g.115047496G>C		1	0		20	2	NM_080687	0	0	1	1	0	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Missense_Mutation	SNP	ENST00000375299.3	37	CCDS9543.1	.	.	.	.	.	.	.	.	.	.	g	24.7	4.562889	0.86335	.	.	ENSG00000169062	ENST00000375299;ENST00000351487	T;T	0.69806	-0.43;-0.43	4.77	4.77	0.60923	Regulator of nonsense-mediated decay, UPF3 (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.79167	0.4400	L	0.58354	1.805	0.80722	D	1	D;D;D	0.89917	0.988;1.0;0.997	D;D;D	0.80764	0.951;0.994;0.991	T	0.78492	-0.2183	9	.	.	.	-20.8011	18.2246	0.89913	0.0:0.0:1.0:0.0	.	70;70;70	B4DGE0;Q9H1J1-2;Q9H1J1	.;.;REN3A_HUMAN	L	70	ENSP00000364448:V70L;ENSP00000329592:V70L	.	V	+	1	0	UPF3A	114065598	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	6.880000	0.75578	2.371000	0.80710	0.473000	0.43528	GTG	.		0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2		Missense_Mutation
APEX1	328	ucsc.edu;bcgsc.ca	37	14	20925154	20925154	+	Missense_Mutation	SNP	T	T	G	rs1130409	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr14:20925154T>G	ENST00000216714.3	+	5	712	c.444T>G	c.(442-444)gaT>gaG	p.D148E	APEX1_ENST00000557365.1_3'UTR|APEX1_ENST00000398030.4_Missense_Mutation_p.D148E|OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557054.1_Intron|OSGEP_ENST00000206542.4_5'Flank|APEX1_ENST00000555414.1_Missense_Mutation_p.D148E	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	148			D -> E (in dbSNP:rs1130409). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.11}.		aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	CTATAGGCGATGAGGAGCATG	0.433								Other BER factors					G|||	1881	0.375599	0.3215	0.4352	5008	,	,		22442	0.4058		0.508	False		,,,				2504	0.2393				p.D148E		.											.	APEX1-661	0			c.T444G	GRCh37	CM063843	APEX1	M	rs1130409	.	G	GLU/ASP,GLU/ASP,GLU/ASP	1611,2795	655.5+/-399.9	305,1001,897	54.0	53.0	54.0		444,444,444	-2.6	0.5	14	dbSNP_86	54	4054,4546	591.9+/-392.9	957,2140,1203	yes	missense,missense,missense	APEX1	NM_001641.3,NM_080648.2,NM_080649.2	45,45,45	1262,3141,2100	GG,GT,TT		47.1395,36.5638,43.5568	benign,benign,benign	148/319,148/319,148/319	20925154	5665,7341	2203	4300	6503	SO:0001583	missense	328	exon5			AGGCGATGAGGAG	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.444T>G	14.37:g.20925154T>G	ENSP00000216714:p.Asp148Glu	60	0		43	4	NM_080648	0	0	1	1	0	Q969L5|Q99775	Missense_Mutation	SNP	ENST00000216714.3	37	CCDS9550.1	967	0.44276556776556775	176	0.35772357723577236	161	0.4447513812154696	234	0.4090909090909091	396	0.5224274406332454	G	0.014	-1.579649	0.00879	0.365638	0.471395	ENSG00000100823	ENST00000555414;ENST00000216714;ENST00000553681;ENST00000398030;ENST00000556054;ENST00000557592;ENST00000557150	T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	5.5	-2.6	0.06190	Endonuclease/exonuclease/phosphatase (2);	0.244558	0.44483	N	0.000455	T	0.00012	0.0000	N	0.05574	-0.02	0.09310	P	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.20739	-1.0266	9	0.02654	T	1	.	6.4421	0.21854	0.4561:0.0:0.3526:0.1914	rs1130409;rs3136820;rs3189201;rs11539219;rs17844937;rs17857670;rs17857957;rs17858508;rs52808870;rs1130409	148	P27695	APEX1_HUMAN	E	148;148;148;148;148;131;131	ENSP00000451979:D148E;ENSP00000216714:D148E;ENSP00000451327:D148E;ENSP00000381111:D148E;ENSP00000451170:D148E;ENSP00000451060:D131E;ENSP00000452418:D131E	ENSP00000216714:D148E	D	+	3	2	APEX1	19994994	0.976000	0.34144	0.537000	0.28052	0.317000	0.28152	0.107000	0.15375	-0.729000	0.04875	-0.121000	0.15023	GAT	T|0.578;G|0.422		0.433	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641	
DTD2	112487	hgsc.bcm.edu	37	14	31926584	31926584	+	Missense_Mutation	SNP	G	G	A	rs17097904	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr14:31926584G>A	ENST00000310850.4	-	1	132	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	DTD2_ENST00000356180.4_Missense_Mutation_p.R6W|RP11-176H8.1_ENST00000547378.1_Missense_Mutation_p.R6W	NM_080664.2	NP_542395.1	Q96FN9	DTD2_HUMAN	D-tyrosyl-tRNA deacylase 2 (putative)	6			R -> W (in dbSNP:rs17097904).		D-amino acid catabolic process (GO:0019478)	cytoplasm (GO:0005737)	hydrolase activity, acting on ester bonds (GO:0016788)	p.R6W(1)									TGAGGAATCCGGCTACCCTCA	0.697																																					p.R6W		.											.	.	1	Substitution - Missense(1)	skin(1)	c.C16T						.						12.0	12.0	12.0					14																	31926584		2183	4278	6461	SO:0001583	missense	112487	exon1			GAATCCGGCTACC	BC010618	CCDS9643.1	14q12	2012-09-25	2012-09-25	2012-09-25	ENSG00000129480	ENSG00000129480			20277	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 126"""	C14orf126			Standard	NM_080664		Approved	MGC9912	uc001wrj.3	Q96FN9	OTTHUMG00000140205	ENST00000310850.4:c.16C>T	14.37:g.31926584G>A	ENSP00000312224:p.Arg6Trp	17	0		171	9	NM_080664	0	0	2	4	2	D3DS87	Missense_Mutation	SNP	ENST00000310850.4	37	CCDS9643.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758136	0.69763	.	.	ENSG00000203546;ENSG00000129480;ENSG00000129480	ENST00000547378;ENST00000310850;ENST00000356180	T;T;T	0.55052	0.54;0.71;0.71	4.84	2.97	0.34412	D-Tyr tRNAtyr deacylase-like domain (1);	0.302778	0.30901	N	0.008651	T	0.52419	0.1733	M	0.69823	2.125	0.36855	D	0.888115	D	0.67145	0.996	B	0.43623	0.425	T	0.65220	-0.6221	10	0.87932	D	0	.	11.9711	0.53063	0.0:0.0:0.5428:0.4572	rs17097904	6	Q96FN9	DTD2_HUMAN	W	6	ENSP00000447056:R6W;ENSP00000312224:R6W;ENSP00000348503:R6W	ENSP00000312224:R6W	R	-	1	2	C14orf126;RP11-176H8.1	30996335	0.001000	0.12720	0.005000	0.12908	0.004000	0.04260	0.080000	0.14802	0.618000	0.30179	0.561000	0.74099	CGG	.		0.697	DTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276614.2	NM_080664	
ARID4A	5926	bcgsc.ca	37	14	58768333	58768333	+	Silent	SNP	C	C	T	rs45562837	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr14:58768333C>T	ENST00000355431.3	+	3	415	c.42C>T	c.(40-42)acC>acT	p.T14T	ARID4A_ENST00000348476.3_Silent_p.T14T|ARID4A_ENST00000395168.3_Silent_p.T14T|ARID4A_ENST00000431317.2_Silent_p.T14T	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	14					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAGTGGGAACCGATGTCAGTG	0.453													C|||	230	0.0459265	0.0045	0.0461	5008	,	,		17442	0.005		0.0825	False		,,,				2504	0.1063				p.T14T		.											.	ARID4A-231	0			c.C42T						.	C	,,	83,4323	69.8+/-107.6	0,83,2120	82.0	78.0	80.0		42,42,42	-5.0	1.0	14	dbSNP_127	80	641,7959	164.6+/-216.9	19,603,3678	no	coding-synonymous,coding-synonymous,coding-synonymous	ARID4A	NM_002892.3,NM_023000.2,NM_023001.2	,,	19,686,5798	TT,TC,CC		7.4535,1.8838,5.5667	,,	14/1258,14/1204,14/1189	58768333	724,12282	2203	4300	6503	SO:0001819	synonymous_variant	5926	exon3			GGGAACCGATGTC	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.42C>T	14.37:g.58768333C>T		118	0		103	4	NM_002892	0	0	0	0	0	Q15991|Q15992|Q15993	Silent	SNP	ENST00000355431.3	37	CCDS9732.1																																																																																			C|0.947;T|0.053		0.453	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001	
L3HYPDH	112849	hgsc.bcm.edu	37	14	59950676	59950676	+	Missense_Mutation	SNP	A	A	C	rs34741399	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr14:59950676A>C	ENST00000247194.4	-	1	472	c.359T>G	c.(358-360)cTt>cGt	p.L120R	JKAMP_ENST00000425728.2_5'Flank|JKAMP_ENST00000556985.1_5'Flank|JKAMP_ENST00000261247.9_5'Flank|JKAMP_ENST00000554271.1_5'Flank|L3HYPDH_ENST00000487285.1_5'Flank|JKAMP_ENST00000356057.5_5'Flank|RP11-701B16.2_ENST00000554253.1_RNA	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	120					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	CGCCGGCACAAGCCCGAAGTC	0.706											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	118	0.0235623	0.0015	0.0519	5008	,	,		15591	0.0		0.0736	False		,,,				2504	0.0061				p.L120R		.											.	.	0			c.T359G						.	A	ARG/LEU	60,4172		0,60,2056	9.0	9.0	9.0		359	5.1	1.0	14	dbSNP_126	9	503,7747		10,483,3632	no	missense	C14orf149	NM_144581.1	102	10,543,5688	CC,CA,AA		6.097,1.4178,4.5105	probably-damaging	120/355	59950676	563,11919	2116	4125	6241	SO:0001583	missense	112849	exon1			GGCACAAGCCCGA	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.359T>G	14.37:g.59950676A>C	ENSP00000247194:p.Leu120Arg	1	0	1042	20	18	NM_144581	0	0	0	0	0	Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	CCDS9739.1	77	0.035256410256410256	1	0.0020325203252032522	26	0.0718232044198895	0	0.0	50	0.06596306068601583	A	15.50	2.851546	0.51270	0.014178	0.06097	ENSG00000126790	ENST00000247194	T	0.20463	2.07	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000001	T	0.01905	0.0060	L	0.39633	1.23	0.80722	D	1	P;P	0.46706	0.883;0.863	P;P	0.49140	0.601;0.449	T	0.00150	-1.1986	10	0.87932	D	0	.	11.7847	0.52034	0.8531:0.1469:0.0:0.0	rs34741399;rs61985498	120;120	B4DGY8;Q96EM0	.;PRCM_HUMAN	R	120	ENSP00000247194:L120R	ENSP00000247194:L120R	L	-	2	0	C14orf149	59020429	1.000000	0.71417	0.995000	0.50966	0.014000	0.08584	8.399000	0.90197	2.039000	0.60335	0.459000	0.35465	CTT	A|0.965;C|0.035		0.706	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581	
SIX4	51804	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	61190755	61190755	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr14:61190755G>A	ENST00000216513.4	-	1	97	c.38C>T	c.(37-39)gCg>gTg	p.A13V		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	13					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GATGTCCGCCGCACTTGCGAT	0.607																																					p.A13V		.											.	SIX4-154	0			c.C38T						.						79.0	88.0	85.0					14																	61190755		2178	4280	6458	SO:0001583	missense	51804	exon1			TCCGCCGCACTTG	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.38C>T	14.37:g.61190755G>A	ENSP00000216513:p.Ala13Val	84	0		78	33	NM_017420	0	0	0	0	0	Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	g	17.97	3.519016	0.64634	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.92595	-3.07	3.05	3.05	0.35203	.	3.643650	0.01627	U	0.023332	D	0.86003	0.5829	N	0.19112	0.55	0.32756	N	0.505805	P;B	0.39022	0.655;0.382	B;B	0.31191	0.125;0.037	T	0.80313	-0.1435	10	0.52906	T	0.07	.	10.8456	0.46741	0.0:0.0:0.8107:0.1893	.	5;13	G3V2N2;Q9UIU6	.;SIX4_HUMAN	V	13;5	ENSP00000216513:A13V	ENSP00000216513:A13V	A	-	2	0	SIX4	60260508	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.998000	0.63927	1.724000	0.51502	0.290000	0.19541	GCG	.		0.607	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2		
IRF2BPL	64207	broad.mit.edu	37	14	77493762	77493767	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs553703325|rs556445214|rs200317113	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr14:77493762_77493767delTGCTGC	ENST00000238647.3	-	1	1267_1272	c.369_374delGCAGCA	c.(367-375)cagcagcaa>caa	p.123_125QQQ>Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	123	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GAgctgttgttgctgctgctgctgct	0.714														4658	0.930112	0.9297	0.9769	5008	,	,		7189	0.872		0.9712	False		,,,				2504	0.9151				p.123_125del		.											.	IRF2BPL-90	0			c.369_374del						.																																			SO:0001651	inframe_deletion	64207	exon1			TGTTGTTGCTGCT	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.369_374delGCAGCA	14.37:g.77493768_77493773delTGCTGC	ENSP00000238647:p.Gln125_Gln126del	17	0		24	13	NM_024496	0	0	0	0	0	Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL	ENST00000238647.3	37	CCDS9854.1																																																																																			CTG|1.000;|0.000		0.714	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496	
TRIP11	9321	hgsc.bcm.edu	37	14	92472567	92472567	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr14:92472567C>G	ENST00000267622.4	-	11	2126	c.1753G>C	c.(1753-1755)Gta>Cta	p.V585L		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	585					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AAATTTTCTACTTTGTCCTCA	0.323			T	PDGFRB	AML																																p.V585L	Ovarian(84;609 1888 9852 42686)	.		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	.	TRIP11-1400	0			c.G1753C						.						108.0	106.0	107.0					14																	92472567		2203	4298	6501	SO:0001583	missense	9321	exon11			TTTCTACTTTGTC	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1753G>C	14.37:g.92472567C>G	ENSP00000267622:p.Val585Leu	36	0		42	3	NM_004239	0	0	0	0	0	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.052|6.052	0.377889|0.377889	0.11466|0.11466	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000554357|ENST00000267622;ENST00000542257	.|T	.|0.04917	.|3.53	6.16|6.16	-3.4|-3.4	0.04853|0.04853	.|.	.|0.554689	.|0.19342	.|N	.|0.116612	T|T	0.05547|0.05547	0.0146|0.0146	L|L	0.55834|0.55834	1.745|1.745	0.22081|0.22081	N|N	0.999379|0.999379	.|B;B	.|0.10296	.|0.001;0.003	.|B;B	.|0.10450	.|0.003;0.005	T|T	0.37502|0.37502	-0.9703|-0.9703	5|10	.|0.24483	.|T	.|0.36	.|.	7.8759|7.8759	0.29592|0.29592	0.0:0.3493:0.1886:0.4621|0.0:0.3493:0.1886:0.4621	.|.	.|321;585	.|F5H1Z0;Q15643	.|.;TRIPB_HUMAN	T|L	300|585;321	.|ENSP00000267622:V585L	.|ENSP00000267622:V585L	S|V	-|-	2|1	0|0	TRIP11|TRIP11	91542320|91542320	0.404000|0.404000	0.25328|0.25328	0.227000|0.227000	0.23927|0.23927	0.037000|0.037000	0.13140|0.13140	0.286000|0.286000	0.18902|0.18902	-0.496000|-0.496000	0.06650|0.06650	-1.752000|-1.752000	0.00675|0.00675	AGT|GTA	.		0.323	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1		
NPAP1	23742	hgsc.bcm.edu	37	15	24921115	24921115	+	Missense_Mutation	SNP	C	C	A	rs35022251	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr15:24921115C>A	ENST00000329468.2	+	1	575	c.101C>A	c.(100-102)cCg>cAg	p.P34Q		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	34			P -> Q (in dbSNP:rs35022251).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GACGCCTCCCCGCCCGGTCGG	0.711													C|||	130	0.0259585	0.0023	0.0303	5008	,	,		10406	0.0		0.0586	False		,,,				2504	0.0481				p.P34Q		.											.	.	0			c.C101A						.	C	GLN/PRO	32,4026		0,32,1997	7.0	10.0	9.0		101	-4.8	0.0	15	dbSNP_126	9	352,7666		8,336,3665	no	missense	C15orf2	NM_018958.2	76	8,368,5662	AA,AC,CC		4.3901,0.7886,3.1799	benign	34/1157	24921115	384,11692	2029	4009	6038	SO:0001583	missense	23742	exon1			CCTCCCCGCCCGG	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.101C>A	15.37:g.24921115C>A	ENSP00000333735:p.Pro34Gln	1	0		5	5	NM_018958	0	0	0	0	0		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	63	0.028846153846153848	2	0.0040650406504065045	10	0.027624309392265192	0	0.0	51	0.06728232189973615	.	2.243	-0.373292	0.05034	0.007886	0.043901	ENSG00000185823	ENST00000329468	T	0.08720	3.06	2.42	-4.83	0.03161	.	.	.	.	.	T	0.00210	0.0006	N	0.01352	-0.895	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.46133	-0.9213	9	0.19147	T	0.46	.	7.4625	0.27304	0.2268:0.4738:0.2994:0.0	rs35022251	34	Q9NZP6	CO002_HUMAN	Q	34	ENSP00000333735:P34Q	ENSP00000333735:P34Q	P	+	2	0	C15orf2	22472208	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.290000	0.08354	-1.979000	0.00992	-1.747000	0.00681	CCG	C|0.970;A|0.030		0.711	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
TRPM1	4308	broad.mit.edu	37	15	31359284	31359284	+	Silent	SNP	T	T	C	rs200934141	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr15:31359284T>C	ENST00000256552.6	-	6	747	c.600A>G	c.(598-600)gaA>gaG	p.E200E	TRPM1_ENST00000397795.2_Silent_p.E178E|MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000542188.1_Silent_p.E217E	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CAACCAGGTCTTCCTTATTCT	0.448													T|||	8	0.00159744	0.0	0.0043	5008	,	,		20490	0.0		0.005	False		,,,				2504	0.0				p.E217E		.											.	TRPM1-94	0			c.A651G						.	T		0,3742		0,0,1871	112.0	106.0	108.0		534	2.6	1.0	15		108	26,8174		0,26,4074	no	coding-synonymous	TRPM1	NM_002420.4		0,26,5945	CC,CT,TT		0.3171,0.0,0.2177		178/1604	31359284	26,11916	1871	4100	5971	SO:0001819	synonymous_variant	4308	exon5			CAGGTCTTCCTTA	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.600A>G	15.37:g.31359284T>C		88	2		85	3	NM_001252020	0	0	0	0	0		Silent	SNP	ENST00000256552.6	37	CCDS58346.1																																																																																			T|0.998;C|0.002		0.448	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
KBTBD13	390594	hgsc.bcm.edu	37	15	65369395	65369395	+	Missense_Mutation	SNP	C	C	T	rs2919358	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr15:65369395C>T	ENST00000432196.2	+	1	242	c.242C>T	c.(241-243)gCc>gTc	p.A81V	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	81					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						CTGCTGCAGGCCGTGGAGTGC	0.736													C|||	2613	0.521765	0.6036	0.5447	5008	,	,		9840	0.7312		0.3887	False		,,,				2504	0.316				p.A81V		.											.	.	0			c.C242T						.	C	VAL/ALA	1463,1441		405,653,394	2.0	3.0	2.0		242	4.6	1.0	15	dbSNP_101	2	2172,4110		500,1172,1469	no	missense	KBTBD13	NM_001101362.2	64	905,1825,1863	TT,TC,CC		34.575,49.6212,39.5711	possibly-damaging	81/459	65369395	3635,5551	1452	3141	4593	SO:0001583	missense	390594	exon1			TGCAGGCCGTGGA		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"""BTB/POZ domain containing"""	37227	protein-coding gene	gene with protein product	"""nemaline myopathy type 6"""	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.242C>T	15.37:g.65369395C>T	ENSP00000388723:p.Ala81Val	4	0		2	2	NM_001101362	0	0	0	0	0		Missense_Mutation	SNP	ENST00000432196.2	37	CCDS45281.1	1197	0.5480769230769231	302	0.6138211382113821	191	0.5276243093922652	410	0.7167832167832168	294	0.38786279683377306	C	20.9	4.061996	0.76187	0.503788	0.34575	ENSG00000234438	ENST00000432196	T	0.67865	-0.29	4.6	4.6	0.57074	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.00012	0.0000	N	0.21324	0.655	0.22629	P	0.99891774	P	0.47034	0.889	P	0.50896	0.653	T	0.37753	-0.9692	8	0.26408	T	0.33	.	17.2241	0.86964	0.0:1.0:0.0:0.0	rs2919358	81	C9JR72	KBTBD_HUMAN	V	81	ENSP00000388723:A81V	ENSP00000388723:A81V	A	+	2	0	KBTBD13	63156448	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	7.251000	0.78297	2.390000	0.81377	0.650000	0.86243	GCC	C|0.452;T|0.548		0.736	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362	
KBTBD13	390594	hgsc.bcm.edu	37	15	65369531	65369531	+	Silent	SNP	G	G	T	rs2946642	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr15:65369531G>T	ENST00000432196.2	+	1	378	c.378G>T	c.(376-378)gcG>gcT	p.A126A	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	126					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						ACAGTGCCGCGCTCTTCATCT	0.716													G|||	2512	0.501597	0.531	0.5403	5008	,	,		9855	0.7302		0.3877	False		,,,				2504	0.316				p.A126A		.											.	.	0			c.G378T						.	G		1399,1573		380,639,467	2.0	2.0	2.0		378	-0.2	1.0	15	dbSNP_101	2	2035,4139		455,1125,1507	no	coding-synonymous	KBTBD13	NM_001101362.2		835,1764,1974	TT,TG,GG		32.9608,47.0727,37.5465		126/459	65369531	3434,5712	1486	3087	4573	SO:0001819	synonymous_variant	390594	exon1			TGCCGCGCTCTTC		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"""BTB/POZ domain containing"""	37227	protein-coding gene	gene with protein product	"""nemaline myopathy type 6"""	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.378G>T	15.37:g.65369531G>T		0	0		5	5	NM_001101362	0	0	0	0	0		Silent	SNP	ENST00000432196.2	37	CCDS45281.1																																																																																			G|0.479;T|0.521		0.716	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362	
C15orf39	56905	bcgsc.ca	37	15	75499995	75499995	+	Missense_Mutation	SNP	T	T	G	rs28509789	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr15:75499995T>G	ENST00000360639.2	+	2	1926	c.1606T>G	c.(1606-1608)Tca>Gca	p.S536A	C15orf39_ENST00000394987.4_Missense_Mutation_p.S536A|C15orf39_ENST00000567617.1_Missense_Mutation_p.S536A			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	536			S -> A (in dbSNP:rs28509789). {ECO:0000269|PubMed:15498874}.			cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						TGAGCCTGACTCAGCCCCAGC	0.617													T|||	1965	0.392372	0.4697	0.4078	5008	,	,		18530	0.3264		0.2773	False		,,,				2504	0.4632				p.S536A		.											.	C15orf39-90	0			c.T1606G						.	T	ALA/SER	1955,2437		448,1059,689	25.0	26.0	26.0		1606	-3.5	0.0	15	dbSNP_125	26	2337,6247		327,1683,2282	yes	missense	C15orf39	NM_015492.4	99	775,2742,2971	GG,GT,TT		27.2251,44.5128,33.0764	benign	536/1048	75499995	4292,8684	2196	4292	6488	SO:0001583	missense	56905	exon2			CCTGACTCAGCCC	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1606T>G	15.37:g.75499995T>G	ENSP00000353854:p.Ser536Ala	143	1		136	7	NM_015492	0	0	22	22	0	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	CCDS10276.1	749	0.34294871794871795	224	0.45528455284552843	141	0.38950276243093923	189	0.3304195804195804	195	0.25725593667546176	T	3.832	-0.035507	0.07497	0.445128	0.272251	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.80393	-1.37;-1.37	4.84	-3.54	0.04653	.	1.653880	0.03470	N	0.213444	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.31888	-0.9927	9	0.08381	T	0.77	.	0.2702	0.00230	0.2813:0.1842:0.2851:0.2495	rs28509789	536	Q6ZRI6	CO039_HUMAN	A	536	ENSP00000353854:S536A;ENSP00000378438:S536A	ENSP00000353854:S536A	S	+	1	0	C15orf39	73287048	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.873000	0.04214	-0.640000	0.05495	0.460000	0.39030	TCA	T|0.662;G|0.338		0.617	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492	
ARRDC4	91947	hgsc.bcm.edu	37	15	98504326	98504326	+	Missense_Mutation	SNP	A	A	G	rs12101554	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr15:98504326A>G	ENST00000268042.6	+	1	399	c.235A>G	c.(235-237)Acc>Gcc	p.T79A	ARRDC4_ENST00000538249.1_Intron	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	79			T -> A (in dbSNP:rs12101554). {ECO:0000269|PubMed:15489334}.		positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CTCGGCCAGCACCGCGGCCCT	0.786													g|||	3817	0.762181	0.5976	0.7118	5008	,	,		7745	0.88		0.7485	False		,,,				2504	0.9131				p.T79A		.											.	ARRDC4-90	0			c.A235G						.		ALA/THR	934,448		327,280,84	1.0	1.0	1.0		235	0.8	0.0	15	dbSNP_120	1	2287,687		920,447,120	no	missense	ARRDC4	NM_183376.2	58	1247,727,204	GG,GA,AA		23.1002,32.4168,26.056	benign	79/419	98504326	3221,1135	691	1487	2178	SO:0001583	missense	91947	exon1			GCCAGCACCGCGG	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.235A>G	15.37:g.98504326A>G	ENSP00000268042:p.Thr79Ala	0	0		3	3	NM_183376	0	0	0	0	0	Q6NSI9	Missense_Mutation	SNP	ENST00000268042.6	37	CCDS10377.1	1613	0.7385531135531136	289	0.5873983739837398	255	0.7044198895027625	512	0.8951048951048951	557	0.7348284960422163	g	3.442	-0.113882	0.06881	0.675832	0.768998	ENSG00000140450	ENST00000268042	T	0.07567	3.18	4.08	0.777	0.18538	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.46222	P	0.0010670000000000401	B	0.02656	0.0	B	0.01281	0.0	T	0.39522	-0.9610	8	0.02654	T	1	-4.3851	2.5111	0.04657	0.2812:0.0:0.3307:0.3881	rs12101554;rs17845860;rs17858835;rs57152335	79	Q8NCT1	ARRD4_HUMAN	A	79	ENSP00000268042:T79A	ENSP00000268042:T79A	T	+	1	0	ARRDC4	96305330	0.005000	0.15991	0.001000	0.08648	0.003000	0.03518	-0.193000	0.09573	0.288000	0.22398	-0.370000	0.07254	ACC	A|0.263;G|0.737		0.786	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376	
TM2D3	80213	hgsc.bcm.edu;broad.mit.edu	37	15	102192536	102192553	+	In_Frame_Del	DEL	CCCCTCAGCGGGAGCACC	CCCCTCAGCGGGAGCACC	-	rs148089973|rs201667620|rs675436|rs2939587	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	CCCCTCAGCGGGAGCACC	CCCCTCAGCGGGAGCACC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr15:102192536_102192553delCCCCTCAGCGGGAGCACC	ENST00000333202.3	-	1	17_34	c.12_29delGGTGCTCCCGCTGAGGGG	c.(10-30)ggggtgctcccgctgaggggc>ggc	p.4_10GVLPLRG>G	TARSL2_ENST00000559492.1_5'Flank|TM2D3_ENST00000428002.2_In_Frame_Del_p.4_10GVLPLRG>G|TM2D3_ENST00000347970.3_In_Frame_Del_p.4_10GVLPLRG>G|TM2D3_ENST00000559107.1_In_Frame_Del_p.4_10GVLPLRG>G|TM2D3_ENST00000561373.1_5'Flank	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	4				L -> R (in Ref. 1; AAK35066, 2; BAB15415/ BAG37956, 4; EAX02315 and 5; AAH06150/ AAH08873). {ECO:0000305}.		integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGCGCGGAGGCCCCTCAGCGGGAGCACCCCTCCCGCCA	0.716																																					p.4_10del		.											.	TM2D3-91	0			c.12_29del						.																																			SO:0001651	inframe_deletion	80213	exon1			CGGAGGCCCCTCA	AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.12_29delGGTGCTCCCGCTGAGGGG	15.37:g.102192536_102192553delCCCCTCAGCGGGAGCACC	ENSP00000330433:p.Gly4_Arg9del	20	0		53	18	NM_025141	0	0	0	0	0	B2RDK9|Q9H046|Q9H651	In_Frame_Del	DEL	ENST00000333202.3	37	CCDS10393.1																																																																																			.		0.716	TM2D3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313623.1	NM_078474	
MSLN	10232	hgsc.bcm.edu	37	16	815740	815740	+	Missense_Mutation	SNP	G	G	A	rs139851878		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr16:815740G>A	ENST00000382862.3	+	10	940	c.845G>A	c.(844-846)cGg>cAg	p.R282Q	MSLN_ENST00000563941.1_Missense_Mutation_p.R282Q|MSLN_ENST00000545450.2_Missense_Mutation_p.R282Q|MSLN_ENST00000566549.1_Missense_Mutation_p.R282Q	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	282	Required for megakaryocyte-potentiating factor activity.				cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CCATCCTGGCGGCAGCCTGAA	0.721																																					p.R282Q		.											.	MSLN-91	0			c.G845A						.	A	GLN/ARG,GLN/ARG,GLN/ARG	0,4348		0,0,2174	20.0	25.0	24.0		845,845,845	-8.3	0.0	16	dbSNP_134	24	1,8559		0,1,4279	yes	missense,missense,missense	MSLN	NM_001177355.1,NM_005823.5,NM_013404.4	43,43,43	0,1,6453	AA,AG,GG		0.0117,0.0,0.0077	benign,benign,benign	282/623,282/623,282/631	815740	1,12907	2174	4280	6454	SO:0001583	missense	10232	exon11			CCTGGCGGCAGCC	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.845G>A	16.37:g.815740G>A	ENSP00000372313:p.Arg282Gln	3	0		245	144	NM_005823	0	0	0	0	0	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	A	9.167	1.020185	0.19433	0.0	1.17E-4	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.12361	2.69;2.69	4.73	-8.34	0.00988	.	1.214080	0.06186	N	0.680316	T	0.03053	0.0090	N	0.02539	-0.55	0.09310	N	1	B;B;B;B	0.11235	0.003;0.004;0.0;0.003	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.38222	-0.9671	10	0.15499	T	0.54	-1.2683	0.2498	0.00204	0.3066:0.2146:0.2535:0.2254	.	281;282;282;282	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	Q	282	ENSP00000442965:R282Q;ENSP00000372313:R282Q	ENSP00000372313:R282Q	R	+	2	0	MSLN	755741	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-5.214000	0.00141	-0.986000	0.03498	-1.961000	0.00478	CGG	G|1.000;A|0.000		0.721	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2		
TPSD1	23430	hgsc.bcm.edu	37	16	1306347	1306347	+	Silent	SNP	G	G	C	rs2005937	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr16:1306347G>C	ENST00000211076.3	+	1	214	c.66G>C	c.(64-66)ccG>ccC	p.P22P	TPSD1_ENST00000397534.2_Silent_p.P15P|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	22			P -> R (in dbSNP:rs3865205). {ECO:0000269|PubMed:9920877}.			extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGGCGAGCCCGGCCTACGTGG	0.721													-|||	1100	0.219649	0.112	0.1571	5008	,	,		14369	0.3641		0.1938	False		,,,				2504	0.2873				p.P22P		.											.	TPSD1-90	0			c.G66C						.						31.0	38.0	36.0					16																	1306347		2197	4298	6495	SO:0001819	synonymous_variant	23430	exon1			GAGCCCGGCCTAC	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.66G>C	16.37:g.1306347G>C		17	0		202	11	NM_012217	0	0	0	0	0	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	37	CCDS10432.1																																																																																			.		0.721	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2		
PTX4	390667	hgsc.bcm.edu	37	16	1537601	1537601	+	Missense_Mutation	SNP	A	A	G	rs2667674	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr16:1537601A>G	ENST00000447419.2	-	2	537	c.512T>C	c.(511-513)cTg>cCg	p.L171P	PTX4_ENST00000293922.1_Missense_Mutation_p.L166P|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	171						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCGCCCCTCCAGAGCAGCCAG	0.731													A|||	341	0.0680911	0.0719	0.0634	5008	,	,		14003	0.0526		0.0875	False		,,,				2504	0.0624				p.L166P		.											.	PTX4-90	0			c.T497C						.	A	PRO/LEU	253,4059		9,235,1912	11.0	14.0	13.0		497	4.0	0.0	16	dbSNP_100	13	771,7671		29,713,3479	no	missense	PTX4	NM_001013658.1	98	38,948,5391	GG,GA,AA		9.1329,5.8673,8.0289	probably-damaging	166/474	1537601	1024,11730	2156	4221	6377	SO:0001583	missense	390667	exon2			CCCTCCAGAGCAG		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.512T>C	16.37:g.1537601A>G	ENSP00000445277:p.Leu171Pro	1	1		21	8	NM_001013658	0	0	0	0	0		Missense_Mutation	SNP	ENST00000447419.2	37		158	0.07234432234432235	30	0.06097560975609756	26	0.0718232044198895	28	0.04895104895104895	74	0.09762532981530343	A	11.77	1.737133	0.30774	0.058673	0.091329	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.09630	3.08;2.96	5.1	3.99	0.46301	.	0.583371	0.15824	N	0.242871	T	0.00637	0.0021	L	0.52573	1.65	0.37568	P	0.08066399999999996	D	0.89917	1.0	D	0.81914	0.995	T	0.03898	-1.0994	9	0.72032	D	0.01	.	9.5613	0.39371	0.9143:0.0:0.0857:0.0	rs2667674	166	Q96A99-2	.	P	171;166	ENSP00000445277:L171P;ENSP00000293922:L166P	ENSP00000293922:L166P	L	-	2	0	PTX4	1477602	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	1.062000	0.30555	0.861000	0.35504	0.533000	0.62120	CTG	A|0.928;G|0.072		0.731	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658	
PKD1	5310	hgsc.bcm.edu	37	16	2152129	2152129	+	Silent	SNP	A	A	G	rs144582212	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr16:2152129A>G	ENST00000262304.4	-	26	9538	c.9330T>C	c.(9328-9330)ccT>ccC	p.P3110P	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Silent_p.P3110P	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3110					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCCACAGAAAGGGATGGCGC	0.667													g|||	695	0.138778	0.3911	0.0994	5008	,	,		16303	0.0		0.0815	False		,,,				2504	0.0276				p.P3110P		.											.	PKD1-91	0			c.T9330C						.																																			SO:0001819	synonymous_variant	5310	exon26			ACAGAAAGGGATG	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.9330T>C	16.37:g.2152129A>G		8	2		105	91	NM_000296	0	0	0	12	12	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			A|0.500;G|0.500		0.667	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1		
PKD1	5310	hgsc.bcm.edu	37	16	2156021	2156021	+	Silent	SNP	A	A	G	rs28575767	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr16:2156021A>G	ENST00000262304.4	-	20	7916	c.7708T>C	c.(7708-7710)Ttg>Ctg	p.L2570L	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Silent_p.L2570L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2570	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGATGGCCAAAGACCTACGA	0.701													g|||	890	0.177716	0.5212	0.1383	5008	,	,		15830	0.0		0.0905	False		,,,				2504	0.0143				p.L2570L		.											.	PKD1-91	0			c.T7708C						.						23.0	36.0	31.0					16																	2156021		1407	2607	4014	SO:0001819	synonymous_variant	5310	exon20			TGGCCAAAGACCT	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7708T>C	16.37:g.2156021A>G		1	0		27	21	NM_000296	0	0	0	0	0	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			A|0.873;G|0.127		0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1		
PKD1	5310	hgsc.bcm.edu	37	16	2156447	2156447	+	Silent	SNP	G	G	A	rs2003782	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr16:2156447G>A	ENST00000262304.4	-	18	7649	c.7441C>T	c.(7441-7443)Ctg>Ttg	p.L2481L	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Silent_p.L2481L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2481	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACAGCGCCCAGTGGGAAGAGG	0.716													a|||	1082	0.216054	0.5439	0.1715	5008	,	,		15215	0.0		0.159	False		,,,				2504	0.0859				p.L2481L		.											.	PKD1-91	0			c.C7441T						.		,	1033,1813		192,649,582	3.0	4.0	4.0		7441,7441	0.4	0.0	16	dbSNP_92	4	861,5451		64,733,2359	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	256,1382,2941	AA,AG,GG		13.6407,36.2966,20.6814	,	2481/4303,2481/4304	2156447	1894,7264	1423	3156	4579	SO:0001819	synonymous_variant	5310	exon18			CGCCCAGTGGGAA	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7441C>T	16.37:g.2156447G>A		0	0		19	19	NM_000296	0	0	15	15	0	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			G|0.793;A|0.207		0.716	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1		
PKD1	5310	hgsc.bcm.edu	37	16	2167874	2167874	+	Silent	SNP	G	G	A	rs199685642	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr16:2167874G>A	ENST00000262304.4	-	5	1327	c.1119C>T	c.(1117-1119)ctC>ctT	p.L373L	RP11-304L19.2_ENST00000562027.1_RNA|PKD1_ENST00000423118.1_Silent_p.L373L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	373					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGCTGAGGTCGAGGCTCTCGT	0.701													g|||	4729	0.944289	0.9924	0.915	5008	,	,		16871	0.999		0.832	False		,,,				2504	0.9591				p.L373L		.											.	PKD1-91	0			c.C1119T						.						1.0	1.0	1.0					16																	2167874		218	660	878	SO:0001819	synonymous_variant	5310	exon5			GAGGTCGAGGCTC	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.1119C>T	16.37:g.2167874G>A		2	0		36	17	NM_000296	0	0	5	5	0	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			A|1.000;|0.000		0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1		
TBC1D24	57465	broad.mit.edu	37	16	2550269	2550269	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr16:2550269C>A	ENST00000293970.5	+	7	1436	c.1303C>A	c.(1303-1305)Ctg>Atg	p.L435M	RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000567020.1_Splice_Site_p.L429M|TBC1D24_ENST00000434757.2_Splice_Site_p.L435M	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	435	TLD.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TCCACCCCAGCTGCAGCCTGA	0.672																																					p.L435M		.											.	TBC1D24-90	0			c.C1303A						.						10.0	14.0	12.0					16																	2550269		2027	4172	6199	SO:0001630	splice_region_variant	57465	exon7			CCCCAGCTGCAGC	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.1303-1C>A	16.37:g.2550269C>A		39	2		234	10	NM_001199107	0	0	0	0	0	A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	ENST00000293970.5	37	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212516	0.58452	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T	0.55760	0.5	5.36	4.4	0.53042	TLDc (2);	0.000000	0.64402	D	0.000001	T	0.54303	0.1850	L	0.52011	1.625	0.58432	D	0.999999	P;P	0.50369	0.934;0.919	P;P	0.51701	0.677;0.548	T	0.52563	-0.8559	9	.	.	.	-20.6826	9.4882	0.38942	0.0:0.8369:0.0:0.1631	.	435;429	Q9ULP9;Q9ULP9-2	TBC24_HUMAN;.	M	429;435	ENSP00000390106:L435M	.	L	+	1	2	TBC1D24	2490270	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	0.915000	0.28638	1.391000	0.46566	0.561000	0.74099	CTG	.		0.672	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705	Missense_Mutation
MEFV	4210	hgsc.bcm.edu	37	16	3304463	3304463	+	Missense_Mutation	SNP	C	C	T	rs224222	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr16:3304463C>T	ENST00000219596.1	-	2	644	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	202			R -> Q (in dbSNP:rs224222). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9668175}.		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)			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						TCTGCGCAGCCGGACCTCGGC	0.771													C|||	681	0.135982	0.0363	0.3242	5008	,	,		10819	0.0308		0.2783	False		,,,				2504	0.0992				p.R202Q		.											.	MEFV-228	0			c.G605A	GRCh37	CM044663	MEFV	M	rs224222	.	C	GLN/ARG,	280,4020		7,266,1877	9.0	11.0	10.0		605,	-5.2	0.0	16	dbSNP_79	10	1996,6326		253,1490,2418	no	missense,intron	MEFV	NM_000243.2,NM_001198536.1	43,	260,1756,4295	TT,TC,CC		23.9846,6.5116,18.032	benign,	202/782,	3304463	2276,10346	2150	4161	6311	SO:0001583	missense	4210	exon2			CGCAGCCGGACCT	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.605G>A	16.37:g.3304463C>T	ENSP00000219596:p.Arg202Gln	0	0		6	3	NM_000243	0	0	0	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	CCDS10498.1	367	0.16804029304029305	20	0.04065040650406504	120	0.3314917127071823	18	0.03146853146853147	209	0.2757255936675462	C	1.316	-0.600781	0.03744	0.065116	0.239846	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.62364	0.03	4.79	-5.23	0.02798	.	2.737930	0.01004	N	0.003723	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.09022	0.002	B	0.04013	0.001	T	0.15896	-1.0421	9	0.02654	T	1	-27.8034	1.8616	0.03189	0.114:0.2357:0.2258:0.4246	rs224222	202	O15553	MEFV_HUMAN	Q	202	ENSP00000219596:R202Q	ENSP00000219596:R202Q	R	-	2	0	MEFV	3244464	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.420000	0.01032	-1.150000	0.02840	-2.943000	0.00086	CGG	C|0.816;T|0.184		0.771	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243	
MEFV	4210	hgsc.bcm.edu	37	16	3304573	3304573	+	Silent	SNP	G	G	T	rs224223	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr16:3304573G>T	ENST00000219596.1	-	2	534	c.495C>A	c.(493-495)gcC>gcA	p.A165A	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_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		6	6	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-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	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		4	4	NM_033212	0	0	0	0	0	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	
MTSS1L	92154	broad.mit.edu	37	16	70698201	70698201	+	Silent	SNP	C	C	A			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr16:70698201C>A	ENST00000338779.6	-	15	1897	c.1623G>T	c.(1621-1623)ggG>ggT	p.G541G	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	541					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CGGTGGGCAGCCCAGCAGTGG	0.711																																					p.G541G		.											.	MTSS1L-68	0			c.G1623T						.						22.0	24.0	24.0					16																	70698201		2188	4278	6466	SO:0001819	synonymous_variant	92154	exon15			GGGCAGCCCAGCA		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1623G>T	16.37:g.70698201C>A		18	1		66	15	NM_138383	0	0	7	8	1	A6NJI7|Q9BUA8	Silent	SNP	ENST00000338779.6	37	CCDS32476.1																																																																																			.		0.711	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383	
CLEC18B	497190	bcgsc.ca	37	16	74451970	74451970	+	Missense_Mutation	SNP	G	G	C	rs201240581	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr16:74451970G>C	ENST00000339953.5	-	3	564	c.443C>G	c.(442-444)aCc>aGc	p.T148S		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	148	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.T148S(1)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CGTGTAGTGGGTGCAGGTGGC	0.612																																					p.T148S		.											.	CLEC18B-90	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.C443G						.						10.0	11.0	11.0					16																	74451970		1710	3535	5245	SO:0001583	missense	497190	exon3			TAGTGGGTGCAGG	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.443C>G	16.37:g.74451970G>C	ENSP00000341051:p.Thr148Ser	260	12		738	57	NM_001011880	0	0	0	0	0	B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	g	3.129	-0.178796	0.06380	.	.	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492	T	0.07688	3.17	3.57	3.57	0.40892	CAP domain (3);	0.557277	0.19650	N	0.109248	T	0.05135	0.0137	N	0.25286	0.73	0.22342	N	0.999188	B;B	0.14012	0.005;0.009	B;B	0.13407	0.007;0.009	T	0.39702	-0.9601	10	0.07030	T	0.85	.	10.55	0.45083	0.0:0.0:1.0:0.0	.	148;148	C9JSV1;Q6UXF7	.;CL18B_HUMAN	S	148	ENSP00000341051:T148S	ENSP00000268492:T148S	T	-	2	0	CLEC18B	73009471	0.995000	0.38212	0.998000	0.56505	0.761000	0.43186	1.684000	0.37649	1.821000	0.53095	0.531000	0.56144	ACC	.		0.612	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880	
HSDL1	83693	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	84164035	84164035	+	Splice_Site	SNP	A	A	T			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr16:84164035A>T	ENST00000219439.4	-	4	398	c.222T>A	c.(220-222)ggT>ggA	p.G74G	HSDL1_ENST00000434463.3_Splice_Site_p.G74G	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	74	Required for mitochondria translocation.					mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						CATCTGTTGCACCTAGGATGC	0.453																																					p.G74G		.											.	HSDL1-90	0			c.T222A						.						68.0	72.0	71.0					16																	84164035		2200	4300	6500	SO:0001630	splice_region_variant	83693	exon4			TGTTGCACCTAGG	AF237684	CCDS10942.1, CCDS54046.1	16q24	2011-09-20			ENSG00000103160	ENSG00000103160		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	16475	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 3"""					12153137, 19027726	Standard	NM_031463		Approved	SDR12C3	uc002fhk.2	Q3SXM5	OTTHUMG00000137635	ENST00000219439.4:c.221-1T>A	16.37:g.84164035A>T		51	1		83	42	NM_031463	0	0	0	0	0	B4DSL2|D3DUL4|Q3SXM4|Q8NC98|Q9BY22	Silent	SNP	ENST00000219439.4	37	CCDS10942.1																																																																																			.		0.453	HSDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269076.3	NM_031463	Silent
GAS8	2622	bcgsc.ca	37	16	90095573	90095573	+	Intron	SNP	C	C	T	rs77382359		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr16:90095573C>T	ENST00000268699.4	+	2	212				GAS8_ENST00000536122.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.V60I|GAS8_ENST00000540721.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						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)		gggcaggctacggggcagctt	0.672																																					p.V60I		.											.	C16orf3-90	0			c.G178A						.						22.0	20.0	21.0					16																	90095573		2194	4299	6493	SO:0001627	intron_variant	750	exon1			AGGCTACGGGGCA	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.90+1443C>T	16.37:g.90095573C>T		46	0		149	18	NM_001214	0	0	0	0	0	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	c	0.708	-0.788068	0.02884	.	.	ENSG00000221819	ENST00000408886	T	0.47177	0.85	.	.	.	.	.	.	.	.	T	0.22244	0.0536	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.22208	-1.0223	4	.	.	.	.	.	.	.	.	68	O95177	CP003_HUMAN	I	60	ENSP00000386218:V60I	.	V	-	1	0	C16orf3	88623074	0.031000	0.19500	0.015000	0.15790	0.017000	0.09413	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GTA	C|0.500;T|0.500		0.672	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2		
KRTAP1-3	81850	hgsc.bcm.edu	37	17	39190943	39190943	+	Missense_Mutation	SNP	A	A	C	rs547336438	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr17:39190943A>C	ENST00000344363.5	-	1	164	c.131T>G	c.(130-132)tTc>tGc	p.F44C		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	54			Missing (in allele KAP1.1). {ECO:0000269|PubMed:11279113, ECO:0000269|PubMed:12228244, ECO:0000269|PubMed:15489334}.			keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AAATCCGCAGAAGCTGGTCTG	0.617													a|||	143	0.0285543	0.0393	0.0231	5008	,	,		19224	0.0238		0.0169	False		,,,				2504	0.0348				p.F44C		.											.	.	0			c.T131G						.						51.0	57.0	55.0					17																	39190943		1964	4165	6129	SO:0001583	missense	81850	exon1			CCGCAGAAGCTGG	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.131T>G	17.37:g.39190943A>C	ENSP00000344420:p.Phe44Cys	159	1		148	12	NM_030966	0	0	0	0	0	Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	ENST00000344363.5	37	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	A	3.165	-0.171169	0.06421	.	.	ENSG00000221880	ENST00000344363	T	0.26518	1.73	3.06	0.556	0.17253	.	.	.	.	.	T	0.09113	0.0225	.	.	.	0.25699	N	0.985603	B	0.02656	0.0	B	0.04013	0.001	T	0.37502	-0.9703	8	0.02654	T	1	.	6.9707	0.24646	0.5657:0.4343:0.0:0.0	.	54	Q8IUG1	KRA13_HUMAN	C	44	ENSP00000344420:F44C	ENSP00000344420:F44C	F	-	2	0	KRTAP1-3	36444469	0.489000	0.26004	0.840000	0.33206	0.502000	0.33828	0.021000	0.13489	0.499000	0.27970	0.383000	0.25322	TTC	.		0.617	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1		
KRTAP4-11	653240	hgsc.bcm.edu	37	17	39274214	39274214	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr17:39274214G>C	ENST00000391413.2	-	1	392	c.354C>G	c.(352-354)agC>agG	p.S118R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	118	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				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)			gtctgcagcagctggacacac	0.652																																					p.S118R		.											.	.	0			c.C354G						.						4.0	8.0	7.0					17																	39274214		642	1521	2163	SO:0001583	missense	653240	exon1			GCAGCAGCTGGAC	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.354C>G	17.37:g.39274214G>C	ENSP00000375232:p.Ser118Arg	29	2		138	11	NM_033059	0	0	0	0	0	A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	11.65	1.702454	0.30232	.	.	ENSG00000212721	ENST00000391413	T	0.01963	4.53	3.63	2.63	0.31362	.	.	.	.	.	T	0.05914	0.0154	M	0.92691	3.335	0.25757	N	0.984995	B	0.18166	0.026	B	0.19391	0.025	T	0.23013	-1.0200	9	0.37606	T	0.19	.	5.3088	0.15819	0.1185:0.2126:0.6689:0.0	.	118	Q9BYQ6	KR411_HUMAN	R	118	ENSP00000375232:S118R	ENSP00000375232:S118R	S	-	3	2	KRTAP4-11	36527740	0.000000	0.05858	0.722000	0.30670	0.015000	0.08874	0.147000	0.16202	0.630000	0.30394	-0.413000	0.06143	AGC	.		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
KRTAP4-11	653240	hgsc.bcm.edu	37	17	39274238	39274238	+	Silent	SNP	A	A	G			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr17:39274238A>G	ENST00000391413.2	-	1	368	c.330T>C	c.(328-330)tgT>tgC	p.C110C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	110	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				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)			agctggggcgacagcagctgg	0.652																																					p.C110C		.											.	.	0			c.T330C						.						5.0	9.0	8.0					17																	39274238		657	1550	2207	SO:0001819	synonymous_variant	653240	exon1			GGGGCGACAGCAG	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.330T>C	17.37:g.39274238A>G		27	1		120	7	NM_033059	0	0	0	0	0	A0AUY2	Silent	SNP	ENST00000391413.2	37	CCDS45675.1																																																																																			.		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
KRTAP4-11	653240	hgsc.bcm.edu	37	17	39274426	39274426	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr17:39274426T>A	ENST00000391413.2	-	1	180	c.142A>T	c.(142-144)Agc>Tgc	p.S48C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				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)			CTGCAGCAGCTGGACACACAG	0.672																																					p.S48C		.											.	.	0			c.A142T						.						12.0	16.0	15.0					17																	39274426		688	1589	2277	SO:0001583	missense	653240	exon1			AGCAGCTGGACAC	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.142A>T	17.37:g.39274426T>A	ENSP00000375232:p.Ser48Cys	49	1		124	8	NM_033059	0	0	0	0	0	A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.54	2.267594	0.40095	.	.	ENSG00000212721	ENST00000391413	T	0.01963	4.53	3.91	1.56	0.23342	.	0.663392	0.11138	U	0.595595	T	0.04998	0.0134	M	0.84773	2.715	0.31757	N	0.633906	B	0.29481	0.245	B	0.28232	0.087	T	0.02244	-1.1189	10	0.62326	D	0.03	.	7.3302	0.26577	0.3502:0.0:0.0:0.6498	.	48	Q9BYQ6	KR411_HUMAN	C	48	ENSP00000375232:S48C	ENSP00000375232:S48C	S	-	1	0	KRTAP4-11	36527952	0.035000	0.19736	0.900000	0.35374	0.093000	0.18481	-0.330000	0.07925	0.082000	0.17018	0.496000	0.49642	AGC	.		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
KRTAP4-6	81871	ucsc.edu	37	17	39296412	39296412	+	Missense_Mutation	SNP	T	T	A	rs200470462		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr17:39296412T>A	ENST00000345847.4	-	1	327	c.328A>T	c.(328-330)Agc>Tgc	p.S110C		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	110	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)		p.S110C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						CTGGAGATGCTGCAGCTGGGA	0.657																																					p.S110C		.											.	.	1	Substitution - Missense(1)	endometrium(1)	c.A328T						.																																			SO:0001583	missense	81871	exon1			AGATGCTGCAGCT	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.328A>T	17.37:g.39296412T>A	ENSP00000328270:p.Ser110Cys	56	3		221	47	NM_030976	0	0	0	0	0	Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	2.702	-0.270707	0.05716	.	.	ENSG00000198090	ENST00000345847	T	0.00832	5.64	5.04	2.75	0.32379	.	.	.	.	.	T	0.00210	0.0006	N	0.00010	-3.04	0.19300	N	0.999971	.	.	.	.	.	.	T	0.44667	-0.9313	7	0.02654	T	1	.	3.2614	0.06850	0.543:0.0:0.1598:0.2972	.	.	.	.	C	110	ENSP00000328270:S110C	ENSP00000328270:S110C	S	-	1	0	KRTAP4-6	36549938	0.149000	0.22717	0.661000	0.29709	0.064000	0.16182	0.179000	0.16840	0.259000	0.21709	-0.319000	0.08680	AGC	.		0.657	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1		
KRTAP9-1	728318	hgsc.bcm.edu	37	17	39346591	39346591	+	Silent	SNP	C	C	T	rs76923645|rs148036927		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr17:39346591C>T	ENST00000398470.1	+	1	453	c.453C>T	c.(451-453)ccC>ccT	p.P151P	KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_Silent_p.P68P	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	151	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament (GO:0045095)				breast(1)|lung(3)	4						CTTGCCAGCCCACCTGCTGTG	0.582																																					p.P151P		.											.	.	0			c.C453T						.																																			SO:0001819	synonymous_variant	728318	exon1			CCAGCCCACCTGC	AC006070	CCDS56029.1	17q21.2	2010-06-03			ENSG00000240542	ENSG00000240542		"""Keratin associated proteins"""	18912	protein-coding gene	gene with protein product			"""keratin associated protein 9-like 3"""	KRTAP9L3			Standard	NM_001190460		Approved	KAP9.1	uc021txf.1	A8MXZ3	OTTHUMG00000133636	ENST00000398470.1:c.453C>T	17.37:g.39346591C>T		93	0		143	27	NM_001190460	0	0	0	0	0		Silent	SNP	ENST00000398470.1	37	CCDS56029.1																																																																																			C|0.500;T|0.500		0.582	KRTAP9-1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257781.1		
CDC27	996	hgsc.bcm.edu	37	17	45214646	45214646	+	Silent	SNP	T	T	C			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr17:45214646T>C	ENST00000066544.3	-	14	1878	c.1785A>G	c.(1783-1785)caA>caG	p.Q595Q	CDC27_ENST00000531206.1_Silent_p.Q601Q|CDC27_ENST00000527547.1_Silent_p.Q594Q|CDC27_ENST00000446365.2_Silent_p.Q534Q	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	595					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTGGATCAACTTGGATAGCTC	0.388																																					p.Q601Q		.											.	CDC27-291	0			c.A1803G						.						55.0	58.0	57.0					17																	45214646		2203	4299	6502	SO:0001819	synonymous_variant	996	exon14			ATCAACTTGGATA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1785A>G	17.37:g.45214646T>C		45	0		45	3	NM_001114091	0	0	2	2	0	G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	CCDS11509.1																																																																																			.		0.388	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
CDC27	996	hgsc.bcm.edu	37	17	45216115	45216115	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr17:45216115T>A	ENST00000066544.3	-	13	1787	c.1694A>T	c.(1693-1695)aAt>aTt	p.N565I	CDC27_ENST00000531206.1_Missense_Mutation_p.N571I|CDC27_ENST00000527547.1_Missense_Mutation_p.N564I|CDC27_ENST00000446365.2_Missense_Mutation_p.N504I	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	565					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.N565I(1)|p.N571I(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CTCTGGCGAATTTTTATCCAT	0.353																																					p.N571I		.											.	CDC27-291	2	Substitution - Missense(2)	ovary(2)	c.A1712T						.						50.0	55.0	54.0					17																	45216115		2201	4299	6500	SO:0001583	missense	996	exon13			GGCGAATTTTTAT	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1694A>T	17.37:g.45216115T>A	ENSP00000066544:p.Asn565Ile	24	1		19	4	NM_001114091	0	0	0	0	0	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.271461	0.80469	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.041764	0.85682	D	0.000000	T	0.53997	0.1831	L	0.58810	1.83	0.58432	D	0.999999	D;P;D;P	0.57257	0.979;0.952;0.978;0.914	P;P;P;B	0.56788	0.806;0.546;0.645;0.36	T	0.52019	-0.8631	10	0.37606	T	0.19	-4.6177	13.77	0.63019	0.0:0.0:0.0:1.0	.	504;564;571;565	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	I	565;571;504;564	ENSP00000066544:N565I;ENSP00000434614:N571I;ENSP00000392802:N504I;ENSP00000437339:N564I	ENSP00000066544:N565I	N	-	2	0	CDC27	42571114	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.893000	0.56243	2.141000	0.66446	0.528000	0.53228	AAT	.		0.353	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
CDC27	996	hgsc.bcm.edu	37	17	45216218	45216218	+	Missense_Mutation	SNP	A	A	G	rs539804101		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr17:45216218A>G	ENST00000066544.3	-	13	1684	c.1591T>C	c.(1591-1593)Tat>Cat	p.Y531H	CDC27_ENST00000531206.1_Missense_Mutation_p.Y537H|CDC27_ENST00000527547.1_Missense_Mutation_p.Y530H|CDC27_ENST00000446365.2_Missense_Mutation_p.Y470H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	531					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TCAACTCTATAATTCTCAATC	0.328																																					p.Y537H		.											.	CDC27-291	0			c.T1609C						.						34.0	38.0	37.0					17																	45216218		2200	4296	6496	SO:0001583	missense	996	exon13			CTCTATAATTCTC	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1591T>C	17.37:g.45216218A>G	ENSP00000066544:p.Tyr531His	27	0		15	3	NM_001114091	0	0	4	4	0	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.197413	0.38806	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.67345	-0.26;-0.26;0.03;-0.26	5.38	5.38	0.77491	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.056763	0.64402	D	0.000001	T	0.47451	0.1446	N	0.12611	0.24	0.50039	D	0.999841	B;B;B;B	0.23490	0.086;0.034;0.034;0.021	B;B;B;B	0.24394	0.053;0.023;0.023;0.012	T	0.43015	-0.9417	10	0.17832	T	0.49	-16.7975	13.3334	0.60503	1.0:0.0:0.0:0.0	.	470;530;537;531	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	H	531;537;470;530	ENSP00000066544:Y531H;ENSP00000434614:Y537H;ENSP00000392802:Y470H;ENSP00000437339:Y530H	ENSP00000066544:Y531H	Y	-	1	0	CDC27	42571217	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.033000	0.60031	0.528000	0.53228	TAT	.		0.328	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
FAM20A	54757	hgsc.bcm.edu	37	17	66596769	66596769	+	Silent	SNP	C	C	T	rs2907388	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr17:66596769C>T	ENST00000592554.1	-	1	761	c.39G>A	c.(37-39)ctG>ctA	p.L13L		NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	13					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CGCCCAGCAGCAGCAGAGTCA	0.756													c|||	410	0.081869	0.0552	0.0159	5008	,	,		10427	0.1071		0.0278	False		,,,				2504	0.1943				p.L13L		.											.	FAM20A-90	0			c.G39A						.			121,3665		1,119,1773	4.0	4.0	4.0		39	3.1	1.0	17	dbSNP_101	4	143,7217		0,143,3537	no	coding-synonymous	FAM20A	NM_017565.3		1,262,5310	TT,TC,CC		1.9429,3.196,2.3686		13/542	66596769	264,10882	1893	3680	5573	SO:0001819	synonymous_variant	54757	exon1			CAGCAGCAGCAGA	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.39G>A	17.37:g.66596769C>T		0	0		11	11	NM_017565	0	0	0	0	0	B2RN47|B2RN49|Q9UF95	Silent	SNP	ENST00000592554.1	37	CCDS11679.1																																																																																			C|0.943;T|0.057		0.756	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565	
MAP2K6	5608	bcgsc.ca	37	17	67513003	67513003	+	Silent	SNP	C	C	A	rs1133228	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr17:67513003C>A	ENST00000590474.1	+	3	378	c.91C>A	c.(91-93)Cga>Aga	p.R31R	MAP2K6_ENST00000589647.1_5'UTR	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	31					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TAGACCACCTCGAGATTTAGA	0.373													C|||	2140	0.427316	0.4206	0.366	5008	,	,		18878	0.4573		0.4374	False		,,,				2504	0.4387				p.R31R		.											.	MAP2K6-1404	0			c.C91A						.	C		1818,2588	532.5+/-373.5	379,1060,764	156.0	145.0	149.0		91	3.6	1.0	17	dbSNP_100	149	3778,4822	535.2+/-382.8	831,2116,1353	no	coding-synonymous	MAP2K6	NM_002758.3		1210,3176,2117	AA,AC,CC		43.9302,41.2619,43.0263		31/335	67513003	5596,7410	2203	4300	6503	SO:0001819	synonymous_variant	5608	exon3			CCACCTCGAGATT	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.91C>A	17.37:g.67513003C>A		126	0		97	6	NM_002758	0	0	0	0	0		Silent	SNP	ENST00000590474.1	37	CCDS11686.1																																																																																			C|0.566;A|0.434		0.373	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758	
QRICH2	84074	bcgsc.ca	37	17	74288472	74288472	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr17:74288472T>C	ENST00000262765.5	-	4	2017	c.1838A>G	c.(1837-1839)cAt>cGt	p.H613R		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	613	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TGCCAAACCATGCTGATCCAC	0.537																																					p.H613R		.											.	QRICH2-94	0			c.A1838G						.						154.0	127.0	136.0					17																	74288472		2203	4300	6503	SO:0001583	missense	84074	exon4			AAACCATGCTGAT	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1838A>G	17.37:g.74288472T>C	ENSP00000262765:p.His613Arg	471	1		391	21	NM_032134	0	0	0	0	0	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	N	0.026	-1.373471	0.01214	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.20881	2.04	4.92	-9.83	0.00482	.	.	.	.	.	T	0.06645	0.0170	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.70328	-0.4902	9	0.23302	T	0.38	5.7062	9.5631	0.39383	0.05:0.3282:0.1059:0.5158	.	613;613	B5MD94;Q9H0J4	.;QRIC2_HUMAN	R	613	ENSP00000262765:H613R	ENSP00000262765:H613R	H	-	2	0	QRICH2	71800067	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.501000	0.00011	-9.456000	0.00000	-5.076000	0.00001	CAT	.		0.537	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134	
QRICH2	84074	bcgsc.ca	37	17	74288480	74288480	+	Silent	SNP	C	C	T			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr17:74288480C>T	ENST00000262765.5	-	4	2009	c.1830G>A	c.(1828-1830)gtG>gtA	p.V610V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	610	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CATGCTGATCCACTCCAGGTT	0.542																																					p.V610V		.											.	QRICH2-94	0			c.G1830A						.						154.0	127.0	136.0					17																	74288480		2203	4300	6503	SO:0001819	synonymous_variant	84074	exon4			CTGATCCACTCCA	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1830G>A	17.37:g.74288480C>T		473	1		398	22	NM_032134	0	0	0	0	0	A2RRE1|Q96LM3	Silent	SNP	ENST00000262765.5	37	CCDS32741.1																																																																																			.		0.542	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134	
ANKRD20A5P	440482	bcgsc.ca	37	18	14183680	14183680	+	RNA	SNP	G	G	A	rs75090388	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr18:14183680G>A	ENST00000581935.1	+	0	531							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						TGTGCCAGTGGCCATGTGAAA	0.388																																					.		.											.	ANKRD20A5P-90	0			.						.																																					440482	.			CCAGTGGCCATGT	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14183680G>A		146	3		186	18	.	0	0	0	0	0	Q4G1B6	RNA	SNP	ENST00000581935.1	37																																																																																				G|0.300;A|0.700		0.388	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1		
SERPINB3	6317	bcgsc.ca	37	18	61323012	61323012	+	Missense_Mutation	SNP	C	C	G	rs3180227|rs386804125|rs72132327	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr18:61323012C>G	ENST00000283752.5	-	8	1195	c.1052G>C	c.(1051-1053)gGa>gCa	p.G351A	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.G299A	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	351			G -> A (increased antiprotease activity and increased MAPK8 inhibition activity; dbSNP:rs3180227). {ECO:0000269|PubMed:12975381, ECO:0000269|PubMed:14970861, ECO:0000269|PubMed:21383048, ECO:0000269|Ref.6}.		negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGATCCGAATCCTACTACAGC	0.488														623	0.124401	0.0514	0.1945	5008	,	,		20109	0.1141		0.1561	False		,,,				2504	0.1513				p.G351A		.											.	SERPINB3-228	0			c.G1052C						.	G	ALA/GLY	354,4052		62,230,1911	120.0	129.0	126.0		1052	-6.0	0.0	18	dbSNP_105	126	1407,7193		127,1153,3020	yes	missense	SERPINB3	NM_006919.2	60	189,1383,4931	GG,GC,CC		16.3605,8.0345,13.5399	benign	351/391	61323012	1761,11245	2203	4300	6503	SO:0001583	missense	6317	exon8			CCGAATCCTACTA	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.1052G>C	18.37:g.61323012C>G	ENSP00000283752:p.Gly351Ala	246	2		225	7	NM_006919	0	0	0	0	0	A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	CCDS11987.1	305	0.13965201465201466	47	0.09552845528455285	68	0.1878453038674033	70	0.12237762237762238	120	0.158311345646438	G	0.814	-0.750872	0.03041	0.080345	0.163605	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.81996	-1.56;-1.56	2.99	-5.99	0.02213	Serpin domain (3);	46.123900	0.00357	N	0.000038	T	0.00144	0.0004	N	0.02420	-0.555	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40232	-0.9574	9	0.20046	T	0.44	.	3.9015	0.09164	0.5397:0.1843:0.0748:0.2012	rs3180227;rs58542861;rs3180227	299;351	P29508-2;P29508	.;SPB3_HUMAN	A	351;299	ENSP00000283752:G351A;ENSP00000329498:G299A	ENSP00000283752:G351A	G	-	2	0	SERPINB3	59473992	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.636000	0.02016	-7.648000	0.00000	-2.790000	0.00116	GGA	C|0.611;G|0.389		0.488	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919	
SALL3	27164	hgsc.bcm.edu	37	18	76752263	76752263	+	Missense_Mutation	SNP	C	C	A	rs35091814	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr18:76752263C>A	ENST00000537592.2	+	2	272	c.272C>A	c.(271-273)cCc>cAc	p.P91H	SALL3_ENST00000575389.2_Missense_Mutation_p.P91H|SALL3_ENST00000536229.3_5'UTR	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	91				P -> H (in Ref. 1; AAK18311 and 2; CAB65124). {ECO:0000305}.	forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCGCCGCCCCCCGAGGACTTC	0.751													C|||	571	0.114018	0.1838	0.0634	5008	,	,		5896	0.0774		0.0865	False		,,,				2504	0.1217				p.P91H		.											.	SALL3-155	0			c.C272A						.	C	HIS/PRO	605,3737		45,515,1611	10.0	12.0	11.0		272	4.5	0.0	18	dbSNP_126	11	739,7787		32,675,3556	no	missense	SALL3	NM_171999.2	77	77,1190,5167	AA,AC,CC		8.6676,13.9337,10.4445	possibly-damaging	91/1301	76752263	1344,11524	2171	4263	6434	SO:0001583	missense	27164	exon2			CGCCCCCCGAGGA	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.272C>A	18.37:g.76752263C>A	ENSP00000441823:p.Pro91His	2	1		5	4	NM_171999	0	0	0	0	0	Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	221	0.10119047619047619	89	0.18089430894308944	25	0.06906077348066299	37	0.06468531468531469	70	0.09234828496042216	C	5.658	0.305946	0.10733	0.139337	0.086676	ENSG00000256463	ENST00000537592;ENST00000536229	T	0.10477	2.87	4.52	4.52	0.55395	.	0.517985	0.17358	N	0.177136	T	0.00039	0.0001	L	0.29908	0.895	0.34757	P	0.26767700000000005	P	0.35600	0.511	B	0.31191	0.125	T	0.43669	-0.9377	9	0.59425	D	0.04	-17.164	17.6194	0.88076	0.0:1.0:0.0:0.0	rs35091814	91	Q9BXA9	SALL3_HUMAN	H	91	ENSP00000441823:P91H	ENSP00000299466:P91H	P	+	2	0	SALL3	74853251	0.082000	0.21442	0.004000	0.12327	0.012000	0.07955	2.380000	0.44327	2.242000	0.73789	0.561000	0.74099	CCC	C|0.898;A|0.102		0.751	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999	
ABCA7	10347	hgsc.bcm.edu	37	19	1065044	1065044	+	Silent	SNP	C	C	T	rs4147935	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:1065044C>T	ENST00000263094.6	+	46	6390	c.6159C>T	c.(6157-6159)ggC>ggT	p.G2053G	ABCA7_ENST00000433129.1_Silent_p.G2053G|ABCA7_ENST00000435683.2_Silent_p.G1915G|HMHA1_ENST00000539243.2_5'Flank|HMHA1_ENST00000586866.1_5'Flank|HMHA1_ENST00000313093.2_5'Flank|HMHA1_ENST00000590214.1_5'Flank|HMHA1_ENST00000536472.1_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	2053					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACATGGAGGCCGCCTGCGCT	0.736																																					p.G2053G		.											.	ABCA7-98	0			c.C6159T						.	C		327,3757		20,287,1735	5.0	6.0	6.0		6159	1.5	0.8	19	dbSNP_110	6	2858,5242		553,1752,1745	no	coding-synonymous	ABCA7	NM_019112.3		573,2039,3480	TT,TC,CC		35.284,8.0069,26.1408		2053/2147	1065044	3185,8999	2042	4050	6092	SO:0001819	synonymous_variant	10347	exon46			TGGAGGCCGCCTG	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.6159C>T	19.37:g.1065044C>T		0	0		4	4	NM_019112	0	0	1	5	4	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																			C|0.766;T|0.234		0.736	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	
ABHD17A	81926	hgsc.bcm.edu	37	19	1881550	1881550	+	Silent	SNP	G	G	A			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:1881550G>A	ENST00000292577.7	-	2	449	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	ABHD17A_ENST00000250974.9_Silent_p.L6L|ABHD17A_ENST00000590661.1_Silent_p.L6L	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	6						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										AGCTCACTCAGCGACAGCCCA	0.761																																					p.L6L		.											.	FAM108A1-90	0			c.C16T						.																																			SO:0001819	synonymous_variant	81926	exon2			CACTCAGCGACAG	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.16C>T	19.37:g.1881550G>A		1	0		33	4	NM_031213	0	0	3	3	0	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	CCDS45902.1																																																																																			.		0.761	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213	
ADAT3	113179	hgsc.bcm.edu	37	19	1912251	1912251	+	Missense_Mutation	SNP	A	A	G	rs150715312	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:1912251A>G	ENST00000602400.1	+	2	385	c.157A>G	c.(157-159)Aag>Gag	p.K53E	ADAT3_ENST00000329478.2_Missense_Mutation_p.K69E|SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000316097.8_Intron|SCAMP4_ENST00000414057.2_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	53					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTCCTGGACAAGCGCCAGAC	0.731													A|||	14	0.00279553	0.0008	0.0072	5008	,	,		11791	0.0		0.008	False		,,,				2504	0.0				p.K69E		.											.	ADAT3-154	0			c.A205G						.	A	,GLU/LYS	19,4335		0,19,2158	12.0	13.0	13.0		,157	3.8	0.9	19	dbSNP_134	13	144,8388		0,144,4122	yes	intron,missense	SCAMP4,ADAT3	NM_079834.2,NM_138422.1	,56	0,163,6280	GG,GA,AA		1.6878,0.4364,1.2649	,probably-damaging	,53/352	1912251	163,12723	2177	4266	6443	SO:0001583	missense	113179	exon2			CTGGACAAGCGCC	BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"""tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"""	615302	"""adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"""			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	ENST00000602400.1:c.157A>G	19.37:g.1912251A>G	ENSP00000473571:p.Lys53Glu	3	0		31	9	NM_138422	0	0	0	1	1		Missense_Mutation	SNP	ENST00000602400.1	37		9	0.004120879120879121	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	6	0.0079155672823219	a	15.08	2.726322	0.48833	0.004364	0.016878	ENSG00000213638	ENST00000329478;ENST00000454697	.	.	.	4.81	3.79	0.43588	.	0.168491	0.50627	D	0.000108	T	0.41119	0.1145	M	0.69185	2.1	0.41829	D	0.990062	P	0.40970	0.734	B	0.42798	0.398	T	0.52034	-0.8629	9	0.56958	D	0.05	-18.1231	9.6141	0.39681	0.797:0.203:0.0:0.0	.	53	Q96EY9	ADAT3_HUMAN	E	53	.	ENSP00000332448:K53E	K	+	1	0	ADAT3	1863251	1.000000	0.71417	0.864000	0.33941	0.072000	0.16883	2.446000	0.44908	0.712000	0.32039	0.523000	0.50628	AAG	A|0.993;G|0.007		0.731	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138422	
S1PR2	9294	hgsc.bcm.edu	37	19	10334797	10334797	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:10334797T>C	ENST00000590320.1	-	2	895	c.785A>G	c.(784-786)cAc>cGc	p.H262R	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	262					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CGGGCAGGAGTGGACGGGACA	0.597																																					p.H262R	Pancreas(194;229 3020 15179 45747)	.											.	S1PR2-522	0			c.A785G						.						79.0	66.0	71.0					19																	10334797		2203	4300	6503	SO:0001583	missense	9294	exon2			CAGGAGTGGACGG	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3169	protein-coding gene	gene with protein product		605111	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"""	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.785A>G	19.37:g.10334797T>C	ENSP00000466933:p.His262Arg	17	0		52	3	NM_004230	0	0	0	0	0	Q86UN8	Missense_Mutation	SNP	ENST00000590320.1	37	CCDS12229.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.625333	0.00117	.	.	ENSG00000175898	ENST00000317726	.	.	.	5.63	2.18	0.27775	GPCR, rhodopsin-like superfamily (1);	0.279293	0.32068	N	0.006628	T	0.08133	0.0203	N	0.01438	-0.865	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32481	-0.9905	9	0.09338	T	0.73	.	4.1444	0.10209	0.1531:0.5355:0.0:0.3114	.	262	O95136	S1PR2_HUMAN	R	262	.	ENSP00000322049:H262R	H	-	2	0	S1PR2	10195797	0.001000	0.12720	0.038000	0.18304	0.018000	0.09664	0.347000	0.20014	0.309000	0.22966	-0.181000	0.13052	CAC	.		0.597	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230	
CACNA1A	773	hgsc.bcm.edu	37	19	13319693	13319693	+	Silent	SNP	A	A	G	rs16051	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:13319693A>G	ENST00000360228.5	-	46	6656	c.6657T>C	c.(6655-6657)caT>caC	p.H2219H	CACNA1A_ENST00000573710.2_Silent_p.H2220H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2220	Poly-His.				adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGGCGGGGGAtggtggtggt	0.731													g|||	3440	0.686901	0.7874	0.6081	5008	,	,		6615	0.7897		0.6252	False		,,,				2504	0.5644				p.H2220H		.											.	CACNA1A-67	0			c.T6660C						.		,,,,	2283,905		898,487,209	3.0	4.0	3.0		6675,6660,6657,6666,6675		1.0	19	dbSNP_54	3	3993,3127		1321,1351,888	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	2219,1838,1097	GG,GA,AA		43.9185,28.3877,39.1153	,,,,	2225/2267,2220/2262,2219/2507,2222/2264,2225/2513	13319693	6276,4032	1594	3560	5154	SO:0001819	synonymous_variant	773	exon46			CGGGGGATGGTGG	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.6657T>C	19.37:g.13319693A>G		0	0		10	5	NM_001127221	0	0	0	0	0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																			A|0.360;G|0.640		0.731	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
CACNA1A	773	hgsc.bcm.edu	37	19	13409472	13409472	+	Missense_Mutation	SNP	T	T	A	rs16023	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:13409472T>A	ENST00000360228.5	-	19	2974	c.2975A>T	c.(2974-2976)gAg>gTg	p.E992V	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E993V	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	993					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	gccctcgccctcgccctcgcc	0.801													T|||	573	0.114417	0.087	0.1326	5008	,	,		6968	0.1171		0.1501	False		,,,				2504	0.0992				p.E993V		.											.	CACNA1A-67	0			c.A2978T						.	T	VAL/GLU,VAL/GLU,VAL/GLU,VAL/GLU,VAL/GLU	230,2242		12,206,1018	10.0	9.0	9.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2987,2978,2975,2978,2987	3.9	1.0	19	dbSNP_54	9	655,4459		37,581,1939	no	missense,missense,missense,missense,missense	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	121,121,121,121,121	49,787,2957	AA,AT,TT		12.808,9.3042,11.6662	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	996/2267,993/2262,992/2507,993/2264,996/2513	13409472	885,6701	1236	2557	3793	SO:0001583	missense	773	exon19			TCGCCCTCGCCCT	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2975A>T	19.37:g.13409472T>A	ENSP00000353362:p.Glu992Val	0	0		28	15	NM_001127221	0	0	0	0	0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	272	0.12454212454212454	38	0.07723577235772358	51	0.1408839779005525	72	0.1258741258741259	111	0.14643799472295516	T	10.27	1.305140	0.23736	0.093042	0.12808	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96073	-3.9	3.89	3.89	0.44902	.	1.284320	0.05715	N	0.596597	T	0.07234	0.0183	L	0.53249	1.67	0.31163	P	0.704161	B;B;P	0.44578	0.002;0.103;0.838	B;B;B	0.35655	0.002;0.085;0.207	T	0.65829	-0.6073	9	0.66056	D	0.02	.	5.9345	0.19158	0.0:0.1223:0.0:0.8777	rs16023	993;996;992	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	V	992;996;993;993	ENSP00000353362:E992V	ENSP00000317661:E993V	E	-	2	0	CACNA1A	13270472	0.026000	0.19158	1.000000	0.80357	0.734000	0.41952	0.822000	0.27352	1.414000	0.47017	0.379000	0.24179	GAG	T|0.125;A|0.875		0.801	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
FCHO1	23149	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	17883278	17883278	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:17883278A>G	ENST00000596536.1	+	10	890	c.607A>G	c.(607-609)Atg>Gtg	p.M203V	FCHO1_ENST00000594202.1_Missense_Mutation_p.M203V|FCHO1_ENST00000539407.1_Missense_Mutation_p.M203V|FCHO1_ENST00000252771.7_Missense_Mutation_p.M203V|FCHO1_ENST00000389133.4_Missense_Mutation_p.M203V|FCHO1_ENST00000600676.1_Missense_Mutation_p.M203V|FCHO1_ENST00000595033.1_Missense_Mutation_p.M153V|FCHO1_ENST00000596951.1_Missense_Mutation_p.M203V|FCHO1_ENST00000597512.1_Missense_Mutation_p.M210V	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	203	Mediates membrane-binding.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CTTCCAAGCCATGGAGGAGAC	0.582																																					p.M203V		.											.	FCHO1-90	0			c.A607G						.						98.0	82.0	87.0					19																	17883278		2203	4300	6503	SO:0001583	missense	23149	exon9			CAAGCCATGGAGG	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.607A>G	19.37:g.17883278A>G	ENSP00000470731:p.Met203Val	236	0		360	166	NM_001161358	0	0	0	0	0	A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	A	8.962	0.970721	0.18659	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.42513	0.97;0.97;0.97	4.05	-0.823	0.10815	.	0.328049	0.37219	N	0.002192	T	0.17577	0.0422	N	0.11927	0.2	0.31869	N	0.620021	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.08055	0.001;0.001;0.003	T	0.02901	-1.1096	10	0.44086	T	0.13	-11.3149	1.623	0.02717	0.3909:0.3431:0.0997:0.1663	.	153;203;203	B4E120;O14526;O14526-2	.;FCHO1_HUMAN;.	V	203	ENSP00000252771:M203V;ENSP00000373785:M203V;ENSP00000437978:M203V	ENSP00000252771:M203V	M	+	1	0	FCHO1	17744278	1.000000	0.71417	0.996000	0.52242	0.825000	0.46686	2.162000	0.42367	-0.249000	0.09569	0.459000	0.35465	ATG	.		0.582	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122	
GDF1	2657	hgsc.bcm.edu	37	19	18980857	18980857	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:18980857A>G	ENST00000247005.6	-	7	1605	c.260T>C	c.(259-261)cTg>cCg	p.L87P	CERS1_ENST00000427170.2_3'UTR			P27539	GDF1_HUMAN	growth differentiation factor 1	87					growth (GO:0040007)	extracellular space (GO:0005615)											GCACGGTTGCAGGGTGACCCC	0.711																																					p.L87P		.											.	GDF1-226	0			c.T260C						.						8.0	11.0	10.0					19																	18980857		1981	4131	6112	SO:0001583	missense	2657	exon7			GGTTGCAGGGTGA	M62302	CCDS42526.1	19p13.11	2014-01-30			ENSG00000130283	ENSG00000130283		"""Endogenous ligands"""	4214	protein-coding gene	gene with protein product		602880				2034669	Standard	NM_001492		Approved			P27539		ENST00000247005.6:c.260T>C	19.37:g.18980857A>G	ENSP00000247005:p.Leu87Pro	7	0		87	43	NM_001492	0	0	0	0	0	O43344	Missense_Mutation	SNP	ENST00000247005.6	37	CCDS42526.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.731950	0.48939	.	.	ENSG00000130283	ENST00000247005	T	0.65178	-0.14	3.36	-3.51	0.04696	.	1.461360	0.04416	N	0.366746	T	0.50667	0.1629	L	0.44542	1.39	0.09310	N	0.999997	.	.	.	.	.	.	T	0.32693	-0.9897	8	0.30078	T	0.28	.	2.9644	0.05903	0.1827:0.1652:0.5079:0.1442	.	.	.	.	P	87	ENSP00000247005:L87P	ENSP00000247005:L87P	L	-	2	0	GDF1	18841857	.	.	0.001000	0.08648	0.827000	0.46813	.	.	-0.873000	0.04032	0.386000	0.25728	CTG	.		0.711	GDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465926.1	NM_001492	
ZNF626	199777	hgsc.bcm.edu	37	19	20807353	20807353	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:20807353T>C	ENST00000601440.1	-	4	1476	c.1330A>G	c.(1330-1332)Agg>Ggg	p.R444G	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGAATTCTCCTATGTGTAGTA	0.373																																					p.R444G		.											.	ZNF626-515	0			c.A1330G						.						65.0	59.0	61.0					19																	20807353		2108	4259	6367	SO:0001583	missense	199777	exon4			TTCTCCTATGTGT	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1330A>G	19.37:g.20807353T>C	ENSP00000469958:p.Arg444Gly	53	1		64	4	NM_001076675	0	0	1	1	0	Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.713	-0.786488	0.02907	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.832	0.832	0.18867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50718	0.1632	L	0.58101	1.795	0.80722	D	1	B	0.23806	0.091	B	0.33121	0.158	T	0.49447	-0.8939	8	0.87932	D	0	.	3.5311	0.07777	0.0:0.0:0.4169:0.583	.	444	Q68DY1	ZN626_HUMAN	G	444;368;444	.	ENSP00000445201:R444G	R	-	1	2	ZNF626	20599193	0.121000	0.22262	0.006000	0.13384	0.006000	0.05464	0.065000	0.14466	0.148000	0.19059	0.147000	0.16070	AGG	.		0.373	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297	
UQCRFS1	7386	hgsc.bcm.edu	37	19	29704010	29704010	+	Missense_Mutation	SNP	A	A	C	rs8100724	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:29704010A>C	ENST00000304863.4	-	1	438	c.16T>G	c.(16-18)Tcc>Gcc	p.S6A	CTB-32O4.2_ENST00000587859.1_lincRNA	NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	6			S -> A (in dbSNP:rs8100724). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2158323, ECO:0000269|PubMed:7721092}.		cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CCTGAGCGGGATGCTACCGAC	0.746													C|||	4777	0.953874	0.944	0.9265	5008	,	,		9603	0.999		0.9165	False		,,,				2504	0.9785				p.S6A		.											.	UQCRFS1-226	0			c.T16G						.						1.0	2.0	2.0					19																	29704010		816	1888	2704	SO:0001583	missense	7386	exon1			AGCGGGATGCTAC	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.16T>G	19.37:g.29704010A>C	ENSP00000306397:p.Ser6Ala	0	0		4	4	NM_006003	0	0	0	0	0	A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	CCDS12415.1	2044	0.9358974358974359	461	0.9369918699186992	326	0.9005524861878453	569	0.9947552447552448	688	0.9076517150395779	C	0.037	-1.301919	0.01353	.	.	ENSG00000169021	ENST00000304863	T	0.36520	1.25	4.42	-0.0799	0.13708	Ubiquinol-cytochrome c reductase 8kDa, N-terminal (1);Globular protein, non-globular alpha/beta subunit (1);	0.198900	0.43579	N	0.000544	T	0.00012	0.0000	N	0.00707	-1.245	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.31696	-0.9934	9	0.02654	T	1	.	4.4059	0.11409	0.1479:0.436:0.0:0.4161	rs8100724;rs17856012;rs17856322;rs60176823;rs8100724	6	P47985	UCRI_HUMAN	A	6	ENSP00000306397:S6A	ENSP00000306397:S6A	S	-	1	0	UQCRFS1	34395850	0.363000	0.24989	0.510000	0.27712	0.005000	0.04900	0.594000	0.24014	-0.304000	0.08843	-1.900000	0.00529	TCC	A|0.065;C|0.935		0.746	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003	
NUDT19	390916	hgsc.bcm.edu	37	19	33183316	33183316	+	Silent	SNP	A	A	G	rs8109823	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:33183316A>G	ENST00000397061.3	+	1	450	c.450A>G	c.(448-450)ccA>ccG	p.P150P	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	150	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CACCAGGCCCAGCACCCGGGC	0.761													A|||	881	0.175919	0.2216	0.0965	5008	,	,		10642	0.2153		0.1779	False		,,,				2504	0.1278				p.P150P		.											.	NUDT19-22	0			c.A450G						.	A		599,3181		35,529,1326	6.0	8.0	7.0		450	-7.1	0.0	19	dbSNP_116	7	1035,7031		77,881,3075	no	coding-synonymous	NUDT19	NM_001105570.1		112,1410,4401	GG,GA,AA		12.8316,15.8466,13.7937		150/376	33183316	1634,10212	1890	4033	5923	SO:0001819	synonymous_variant	390916	exon1			AGGCCCAGCACCC		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.450A>G	19.37:g.33183316A>G		0	0		5	3	NM_001105570	0	0	1	1	0		Silent	SNP	ENST00000397061.3	37	CCDS42543.1																																																																																			A|0.805;G|0.195		0.761	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723	
SIPA1L3	23094	hgsc.bcm.edu	37	19	38684392	38684392	+	Silent	SNP	C	C	T	rs143617253	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:38684392C>T	ENST00000222345.6	+	18	5321	c.4812C>T	c.(4810-4812)gcC>gcT	p.A1604A		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1604					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCACCCCTGCCGCCGGCAGCG	0.716													C|||	2	0.000399361	0.0008	0.0	5008	,	,		9454	0.0		0.001	False		,,,				2504	0.0				p.A1604A		.											.	SIPA1L3-91	0			c.C4812T						.	C		2,3162		0,2,1580	5.0	6.0	6.0		4812	-3.5	0.0	19	dbSNP_134	6	17,6785		0,17,3384	no	coding-synonymous	SIPA1L3	NM_015073.1		0,19,4964	TT,TC,CC		0.2499,0.0632,0.1906		1604/1782	38684392	19,9947	1582	3401	4983	SO:0001819	synonymous_variant	23094	exon18			CCCTGCCGCCGGC	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4812C>T	19.37:g.38684392C>T		1	1		12	7	NM_015073	0	0	0	2	2	Q2TV87	Silent	SNP	ENST00000222345.6	37	CCDS33007.1																																																																																			C|0.999;T|0.001		0.716	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	
RINL	126432	hgsc.bcm.edu	37	19	39360720	39360720	+	Missense_Mutation	SNP	G	G	A	rs8110393	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:39360720G>A	ENST00000591812.1	-	9	1291	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	RINL_ENST00000602238.1_5'Flank|RINL_ENST00000598904.1_Missense_Mutation_p.P288L|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000340740.3_Missense_Mutation_p.P288L			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	402	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.		P -> L (in dbSNP:rs8110393).		endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGCGGGGGCGGGGCTCTGCCC	0.781													G|||	3477	0.694289	0.9289	0.6153	5008	,	,		10275	0.7619		0.4642	False		,,,				2504	0.6002				p.P402L		.											.	RINL-91	0			c.C1205T						.	G	LEU/PRO,LEU/PRO	3328,464		1489,350,57	4.0	4.0	4.0		1205,863	3.5	1.0	19	dbSNP_116	4	4059,3433		1245,1569,932	no	missense,missense	RINL	NM_001195833.1,NM_198445.3	98,98	2734,1919,989	AA,AG,GG		45.8222,12.2363,34.5356	probably-damaging,probably-damaging	402/567,288/453	39360720	7387,3897	1896	3746	5642	SO:0001583	missense	126432	exon9			GGGGCGGGGCTCT	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1205C>T	19.37:g.39360720G>A	ENSP00000467107:p.Pro402Leu	0	0		7	7	NM_001195833	0	0	0	0	0	B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	CCDS59386.1	1421	0.6506410256410257	458	0.9308943089430894	225	0.6215469613259669	401	0.701048951048951	337	0.4445910290237467	G	17.17	3.320891	0.60634	0.877637	0.541778	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.28454	1.61	4.57	3.53	0.40419	Vacuolar sorting protein 9 (1);	0.269737	0.35235	N	0.003350	T	0.00012	0.0000	M	0.67700	2.07	0.21553	P	0.999649277	B;B	0.21225	0.053;0.053	B;B	0.22152	0.038;0.038	T	0.17776	-1.0358	9	0.72032	D	0.01	-26.0247	8.5759	0.33598	0.1063:0.0:0.8937:0.0	rs8110393;rs61482706	402;288	B4DPG5;Q6ZS11	.;RINL_HUMAN	L	288	ENSP00000340369:P288L	ENSP00000340369:P288L	P	-	2	0	RINL	44052560	1.000000	0.71417	0.987000	0.45799	0.313000	0.28021	4.771000	0.62318	1.273000	0.44346	0.407000	0.27541	CCC	G|0.349;A|0.651		0.781	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445	
FCGBP	8857	hgsc.bcm.edu	37	19	40399430	40399430	+	Missense_Mutation	SNP	T	T	C	rs76734965|rs149549244	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:40399430T>C	ENST00000221347.6	-	13	6272	c.6265A>G	c.(6265-6267)Aat>Gat	p.N2089D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2089	VWFD 5. {ECO:0000255|PROSITE- ProRule:PRU00580}.		N -> D (in dbSNP:rs885723).			extracellular vesicular exosome (GO:0070062)		p.N2089D(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTTGGAAATTGAATCGGTGC	0.632													C|||	3066	0.61222	0.6846	0.6066	5008	,	,		7331	0.4821		0.6421	False		,,,				2504	0.6217				p.N2089D		.											.	FCGBP-98	1	Substitution - Missense(1)	large_intestine(1)	c.A6265G						.						27.0	31.0	30.0					19																	40399430		1098	2103	3201	SO:0001583	missense	8857	exon13			GGAAATTGAATCG	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.6265A>G	19.37:g.40399430T>C	ENSP00000221347:p.Asn2089Asp	3	2		11	8	NM_003890	0	0	0	1	1	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	2.643	-0.283636	0.05642	.	.	ENSG00000090920	ENST00000221347	T	0.59772	0.24	3.01	3.01	0.34805	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.15565	0.0375	N	0.00202	-1.86	0.49483	P	2.0699999999995722E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.33854	-0.9852	8	0.02654	T	1	.	6.3672	0.21461	0.0:0.7561:0.0:0.2439	.	2089	Q9Y6R7	FCGBP_HUMAN	D	2089	ENSP00000221347:N2089D	ENSP00000221347:N2089D	N	-	1	0	FCGBP	45091270	0.006000	0.16342	0.994000	0.49952	0.789000	0.44602	0.160000	0.16462	0.492000	0.27815	-0.711000	0.03637	AAT	T|0.083;C|0.917		0.632	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
GLTSCR1	29998	hgsc.bcm.edu	37	19	48184059	48184059	+	Silent	SNP	C	C	T	rs376362178		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:48184059C>T	ENST00000396720.3	+	6	1826	c.1632C>T	c.(1630-1632)gcC>gcT	p.A544A	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	544										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		TCCTCTCCGCCGCTCCCATCC	0.741																																					p.A544A		.											.	GLTSCR1-48	0			c.C1632T						.	C		0,3610		0,0,1805	15.0	19.0	17.0		1632	-8.9	0.4	19		17	9,7785		0,9,3888	no	coding-synonymous	GLTSCR1	NM_015711.3		0,9,5693	TT,TC,CC		0.1155,0.0,0.0789		544/1561	48184059	9,11395	1805	3897	5702	SO:0001819	synonymous_variant	29998	exon6			CTCCGCCGCTCCC	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.1632C>T	19.37:g.48184059C>T		0	0		31	16	NM_015711	0	0	0	0	0	A8MW01	Silent	SNP	ENST00000396720.3	37	CCDS46134.1																																																																																			.		0.741	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711	
GLTSCR2	29997	hgsc.bcm.edu	37	19	48258717	48258717	+	Missense_Mutation	SNP	A	A	G	rs1804994	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:48258717A>G	ENST00000246802.5	+	9	1204	c.1166A>G	c.(1165-1167)cAg>cGg	p.Q389R	GLTSCR2_ENST00000598681.1_3'UTR|SNORD23_ENST00000408876.1_RNA|CTD-2571L23.6_ENST00000602048.1_RNA	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	389			Q -> R (in dbSNP:rs1804994). {ECO:0000269|PubMed:10708517, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.4}.			intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		gcgcggcggcagaggcggcgg	0.761													G|||	3570	0.712859	0.857	0.6888	5008	,	,		6528	0.5546		0.6799	False		,,,				2504	0.7321				p.Q389R	Colon(58;613 1041 9473 10089 15241)	.											.	GLTSCR2-514	0			c.A1166G						.						1.0	2.0	1.0					19																	48258717		823	2228	3051	SO:0001583	missense	29997	exon9			GGCGGCAGAGGCG	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.1166A>G	19.37:g.48258717A>G	ENSP00000246802:p.Gln389Arg	0	0		3	3	NM_015710	0	0	0	5	5	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	CCDS12705.1	1513	0.6927655677655677	424	0.8617886178861789	252	0.6961325966850829	316	0.5524475524475524	521	0.6873350923482849	G	0.092	-1.166361	0.01660	.	.	ENSG00000105373	ENST00000246802;ENST00000325566	T	0.39229	1.09	3.93	2.86	0.33363	.	0.430291	0.24226	N	0.040398	T	0.00012	0.0000	N	0.00289	-1.7	0.54753	P	1.2000000000012001E-5	B	0.02656	0.0	B	0.06405	0.002	T	0.35450	-0.9788	9	0.05620	T	0.96	-11.9316	6.8245	0.23874	0.2235:0.0:0.7765:0.0	rs1804994;rs3211363;rs16949619;rs17343460;rs17856180;rs17856325;rs57240470	389	Q9NZM5	GSCR2_HUMAN	R	389;383	ENSP00000246802:Q389R	ENSP00000246802:Q389R	Q	+	2	0	GLTSCR2	52950529	0.025000	0.19082	0.815000	0.32552	0.328000	0.28507	0.153000	0.16323	0.415000	0.25817	-0.231000	0.12243	CAG	A|0.308;G|0.692		0.761	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710	
NTN5	126147	hgsc.bcm.edu	37	19	49164952	49164952	+	Silent	SNP	A	A	G	rs281392	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:49164952A>G	ENST00000270235.4	-	7	1547	c.1452T>C	c.(1450-1452)agT>agC	p.S484S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	484						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCGGCCTGGGACTGGGTGTGG	0.687													G|||	2669	0.532947	0.351	0.4669	5008	,	,		9559	0.5625		0.6421	False		,,,				2504	0.683				p.S484S		.											.	NTN5-136	0			c.T1452C						.	G		1663,2349		390,883,733	9.0	9.0	9.0		1452	2.2	0.0	19	dbSNP_79	9	5217,2785		1816,1585,600	no	coding-synonymous	NTN5	NM_145807.1		2206,2468,1333	GG,GA,AA		34.8038,41.4506,42.7335		484/490	49164952	6880,5134	2006	4001	6007	SO:0001819	synonymous_variant	126147	exon7			CCTGGGACTGGGT		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.1452T>C	19.37:g.49164952A>G		1	1		4	4	NM_145807	0	0	0	0	0	Q8N4X9|Q8WU63	Silent	SNP	ENST00000270235.4	37	CCDS33068.1																																																																																			A|0.464;G|0.536		0.687	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807	
KCNA7	3743	hgsc.bcm.edu	37	19	49575618	49575618	+	Silent	SNP	A	A	G	rs71352730	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:49575618A>G	ENST00000221444.1	-	1	580	c.225T>C	c.(223-225)ggT>ggC	p.G75G		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	75					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	GCAGCCGCCCACCGGACTGGT	0.731													a|||	708	0.141374	0.2837	0.1398	5008	,	,		7174	0.0486		0.0875	False		,,,				2504	0.1012				p.G75G	Colon(74;686 1235 3793 23366 48562)	.											.	KCNA7-90	0			c.T225C						.			790,3356		66,658,1349	9.0	12.0	11.0		225	-0.4	1.0	19	dbSNP_130	11	613,7491		29,555,3468	no	coding-synonymous	KCNA7	NM_031886.2		95,1213,4817	GG,GA,AA		7.5642,19.0545,11.4531		75/457	49575618	1403,10847	2073	4052	6125	SO:0001819	synonymous_variant	3743	exon1			CCGCCCACCGGAC	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.225T>C	19.37:g.49575618A>G		0	0		12	9	NM_031886	0	0	0	0	0	A1KYX7|Q9BYS4	Silent	SNP	ENST00000221444.1	37	CCDS12755.1																																																																																			A|0.868;G|0.132		0.731	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886	
ASPDH	554235	hgsc.bcm.edu	37	19	51015404	51015404	+	Missense_Mutation	SNP	T	T	C	rs12977172	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:51015404T>C	ENST00000389208.4	-	6	858	c.797A>G	c.(796-798)cAg>cGg	p.Q266R	ASPDH_ENST00000376916.3_Missense_Mutation_p.Q161R|ASPDH_ENST00000597030.1_5'Flank|JOSD2_ENST00000391815.3_5'Flank|JOSD2_ENST00000601423.1_5'Flank|JOSD2_ENST00000595669.1_5'Flank|JOSD2_ENST00000598418.1_5'Flank	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	266			Q -> R (in dbSNP:rs12977172). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.		NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						CAGGAGGCTCTGCCAGAAGGC	0.706													C|||	3986	0.795927	0.9728	0.7781	5008	,	,		10864	0.7143		0.6849	False		,,,				2504	0.7679				p.Q266R		.											.	ASPDH-90	0			c.A797G						.	C	ARG/GLN,ARG/GLN	3799,331		1771,257,37	6.0	9.0	8.0		482,797	1.9	1.0	19	dbSNP_121	8	5527,2593		1919,1689,452	no	missense,missense	ASPDH	NM_001024656.2,NM_001114598.1	43,43	3690,1946,489	CC,CT,TT		31.9335,8.0145,23.8694	benign,benign	161/179,266/284	51015404	9326,2924	2065	4060	6125	SO:0001583	missense	554235	exon6			AGGCTCTGCCAGA		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.797A>G	19.37:g.51015404T>C	ENSP00000373860:p.Gln266Arg	1	1		5	5	NM_001114598	0	0	0	0	0	Q6NZ37	Missense_Mutation	SNP	ENST00000389208.4	37	CCDS46153.1	1681	0.7696886446886447	481	0.9776422764227642	273	0.7541436464088398	412	0.7202797202797203	515	0.679419525065963	C	3.606	-0.080592	0.07141	0.919855	0.680665	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.39997	1.05;1.05	2.95	1.88	0.25563	Aspartate dehydrogenase (1);	1.158050	0.06646	N	0.761872	T	0.00012	0.0000	N	0.01705	-0.755	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30794	-0.9966	9	0.06099	T	0.92	-1.7519	4.8935	0.13738	0.0:0.6813:0.0:0.3187	rs12977172	266;161	A6ND91;A6ND91-2	ASPD_HUMAN;.	R	161;266	ENSP00000366114:Q161R;ENSP00000373860:Q266R	ENSP00000366114:Q161R	Q	-	2	0	ASPDH	55707216	0.916000	0.31088	0.989000	0.46669	0.553000	0.35397	0.171000	0.16685	0.125000	0.18397	-0.355000	0.07637	CAG	T|0.228;C|0.772		0.706	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464861.1	NM_001024656	
LRRC4B	94030	hgsc.bcm.edu	37	19	51021057	51021057	+	Missense_Mutation	SNP	A	A	G	rs61751957	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:51021057A>G	ENST00000599957.1	-	3	2110	c.1913T>C	c.(1912-1914)gTg>gCg	p.V638A	LRRC4B_ENST00000389201.3_Missense_Mutation_p.V638A			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	638	Poly-Ala.			AV -> TA (in Ref. 2; AAH56207). {ECO:0000305}.	positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCCACTGGCCACGGCGGCCGC	0.726													A|||	1071	0.213858	0.1702	0.2579	5008	,	,		10941	0.125		0.2893	False		,,,				2504	0.2556				p.V638A		.											.	LRRC4B-205	0			c.T1913C						.	A	ALA/VAL	591,3051		57,477,1287	13.0	15.0	14.0		1913	-0.8	0.0	19	dbSNP_129	14	2294,5564		347,1600,1982	no	missense	LRRC4B	NM_001080457.1	64	404,2077,3269	GG,GA,AA		29.1932,16.2273,25.087	benign	638/714	51021057	2885,8615	1821	3929	5750	SO:0001583	missense	94030	exon3			CTGGCCACGGCGG	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1913T>C	19.37:g.51021057A>G	ENSP00000471502:p.Val638Ala	1	0		17	5	NM_001080457	0	0	0	0	0	Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	CCDS42595.1	484	0.2216117216117216	86	0.17479674796747968	89	0.24585635359116023	74	0.12937062937062938	235	0.3100263852242744	A	2.037	-0.421084	0.04734	0.162273	0.291932	ENSG00000131409	ENST00000389201	T	0.27402	1.67	2.86	-0.757	0.11054	.	0.245138	0.17282	U	0.179967	T	0.00012	0.0000	L	0.36672	1.1	0.47183	P	6.540000000000434E-4	B	0.06786	0.001	B	0.04013	0.001	T	0.44982	-0.9292	9	0.12430	T	0.62	.	6.0652	0.19860	0.596:0.0:0.404:0.0	rs61751957	638	Q9NT99	LRC4B_HUMAN	A	638	ENSP00000373853:V638A	ENSP00000373853:V638A	V	-	2	0	LRRC4B	55712869	1.000000	0.71417	0.038000	0.18304	0.337000	0.28794	2.356000	0.44116	-0.425000	0.07371	-1.467000	0.01014	GTG	A|0.777;G|0.223		0.726	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457	
SHANK1	50944	hgsc.bcm.edu	37	19	51171188	51171188	+	Silent	SNP	G	G	A	rs750578	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:51171188G>A	ENST00000293441.1	-	22	4047	c.4029C>T	c.(4027-4029)acC>acT	p.T1343T	SHANK1_ENST00000391814.1_Silent_p.T1351T|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Silent_p.T1334T|SHANK1_ENST00000391813.1_Silent_p.T730T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1343					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGGCCTTGCCGGTCAGCGGGT	0.786													g|||	1533	0.30611	0.0484	0.5576	5008	,	,		7768	0.3185		0.4364	False		,,,				2504	0.3292				p.T1343T		.											.	SHANK1-153	0			c.C4029T						.			167,1995		14,139,928	2.0	2.0	2.0		4029	1.5	1.0	19	dbSNP_86	2	1560,3624		219,1122,1251	no	coding-synonymous	SHANK1	NM_016148.2		233,1261,2179	AA,AG,GG		30.0926,7.7243,23.5094		1343/2162	51171188	1727,5619	1081	2592	3673	SO:0001819	synonymous_variant	50944	exon22			CTTGCCGGTCAGC	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.4029C>T	19.37:g.51171188G>A		0	0		4	4	NM_016148	0	0	0	0	0	A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	CCDS12799.1																																																																																			G|0.661;A|0.339		0.786	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	
PPP1R12C	54776	hgsc.bcm.edu	37	19	55628609	55628609	+	Silent	SNP	A	A	G	rs66707428	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:55628609A>G	ENST00000263433.3	-	1	318	c.303T>C	c.(301-303)ggT>ggC	p.G101G	PPP1R12C_ENST00000376393.2_Silent_p.G101G	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGGCGCTGATACCGTCGGCGT	0.781													N|||	1009	0.201478	0.2806	0.0965	5008	,	,		7556	0.2738		0.1093	False		,,,				2504	0.1892				p.G101G		.											.	PPP1R12C-227	0			c.T303C						.						1.0	2.0	1.0					19																	55628609		1184	2666	3850	SO:0001819	synonymous_variant	54776	exon1			GCTGATACCGTCG	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.303T>C	19.37:g.55628609A>G		0	0		10	3	NM_017607	0	0	2	2	0		Silent	SNP	ENST00000263433.3	37	CCDS12916.1																																																																																			A|0.808;G|0.192		0.781	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607	
FAM71E2	284418	hgsc.bcm.edu	37	19	55869899	55869899	+	Silent	SNP	T	T	G	rs386811061|rs67988285|rs67168196	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:55869899T>G	ENST00000424985.3	-	9	2530	c.2337A>C	c.(2335-2337)ccA>ccC	p.P779P	CTD-2105E13.6_ENST00000591954.3_Missense_Mutation_p.H329P	NM_001145402.1	NP_001138874.1	Q8N5Q1	F71E2_HUMAN	family with sequence similarity 71, member E2	779			Missing (in dbSNP:rs35996821). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.							NS(1)|breast(3)|endometrium(2)|kidney(1)|skin(1)	8						TCTCGCCCCATGGCTGCTCCT	0.632																																					p.P779P		.											.	.	0			c.A2337C						.						13.0	14.0	14.0					19																	55869899		683	1580	2263	SO:0001819	synonymous_variant	284418	exon9			GCCCCATGGCTGC	AL834316		19q13.42	2014-04-02	2007-11-20	2007-11-20	ENSG00000180043	ENSG00000180043			25278	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 16"""	C19orf16			Standard	NM_001145402		Approved	DKFZp434G1729	uc002qkr.2	Q8N5Q1	OTTHUMG00000170357	ENST00000424985.3:c.2337A>C	19.37:g.55869899T>G		38	0		76	5	NM_001145402	0	0	0	0	0	Q8ND99	Silent	SNP	ENST00000424985.3	37																																																																																				.		0.632	FAM71E2-010	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000409063.4	NM_001145402	
FAM71E2	284418	hgsc.bcm.edu	37	19	55869902	55869902	+	Silent	SNP	C	C	T	rs386811061|rs67988285|rs67168196	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr19:55869902C>T	ENST00000424985.3	-	9	2527	c.2334G>A	c.(2332-2334)caG>caA	p.Q778Q	CTD-2105E13.6_ENST00000591954.3_Missense_Mutation_p.S328N	NM_001145402.1	NP_001138874.1	Q8N5Q1	F71E2_HUMAN	family with sequence similarity 71, member E2	778			Missing (in dbSNP:rs35996821). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.							NS(1)|breast(3)|endometrium(2)|kidney(1)|skin(1)	8						CGCCCCATGGCTGCTCCTTCA	0.632																																					p.Q778Q		.											.	.	0			c.G2334A						.						14.0	15.0	15.0					19																	55869902		682	1552	2234	SO:0001819	synonymous_variant	284418	exon9			CCATGGCTGCTCC	AL834316		19q13.42	2014-04-02	2007-11-20	2007-11-20	ENSG00000180043	ENSG00000180043			25278	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 16"""	C19orf16			Standard	NM_001145402		Approved	DKFZp434G1729	uc002qkr.2	Q8N5Q1	OTTHUMG00000170357	ENST00000424985.3:c.2334G>A	19.37:g.55869902C>T		35	0		77	7	NM_001145402	0	0	0	0	0	Q8ND99	Silent	SNP	ENST00000424985.3	37																																																																																				.		0.632	FAM71E2-010	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000409063.4	NM_001145402	
FAM110C	642273	hgsc.bcm.edu	37	2	45895	45895	+	Missense_Mutation	SNP	A	A	G	rs4241318	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr2:45895A>G	ENST00000327669.4	-	1	490	c.491T>C	c.(490-492)aTc>aCc	p.I164T	FAM110C_ENST00000460464.1_5'Flank	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	164				I -> T (in Ref. 1; ABD92775). {ECO:0000305}.	positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell projection assembly (GO:0060491)	cell cortex (GO:0005938)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		GGTCTCGGGGATTGCGGGGTC	0.786													G|||	5004	0.999201	1.0	1.0	5008	,	,		7869	1.0		0.996	False		,,,				2504	1.0				p.I164T		.											.	FAM110C-68	0			c.T491C						.	G	THR/ILE	2781,1		1390,1,0	2.0	3.0	3.0		491	2.7	0.0	2	dbSNP_111	3	6567,21		3273,21,0	no	missense	FAM110C	NM_001077710.2	89	4663,22,0	GG,GA,AA		0.3188,0.0359,0.2348	benign	164/322	45895	9348,22	1391	3294	4685	SO:0001583	missense	642273	exon1			TCGGGGATTGCGG	DQ431183	CCDS42645.1	2p25.3	2011-12-01			ENSG00000184731	ENSG00000184731			33340	protein-coding gene	gene with protein product		611395				17499476, 19698782	Standard	NM_001077710		Approved		uc010yim.2	Q1W6H9	OTTHUMG00000151321	ENST00000327669.4:c.491T>C	2.37:g.45895A>G	ENSP00000328347:p.Ile164Thr	0	0		3	3	NM_001077710	0	0	0	0	0		Missense_Mutation	SNP	ENST00000327669.4	37	CCDS42645.1	2159	0.9885531135531136	492	1.0	362	1.0	549	0.9597902097902098	756	0.9973614775725593	G	4.848	0.157575	0.09236	0.999641	0.996812	ENSG00000184731	ENST00000327669	T	0.30182	1.54	3.58	2.7	0.31948	.	41.233100	0.00166	N	0.000000	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	0.35076	-0.9803	9	0.09084	T	0.74	-11.2368	6.0655	0.19862	0.2481:0.0:0.7519:0.0	rs4241318	164	Q1W6H9	F110C_HUMAN	T	164	ENSP00000328347:I164T	ENSP00000328347:I164T	I	-	2	0	FAM110C	35895	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.401000	0.07232	0.330000	0.23485	-0.222000	0.12452	ATC	A|0.011;G|0.989		0.786	FAM110C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322220.1	NM_001077710	
TEKT4	150483	hgsc.bcm.edu	37	2	95539855	95539855	+	Splice_Site	SNP	T	T	G	rs201662522	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr2:95539855T>G	ENST00000295201.4	+	3	850		c.e3+2		AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4						cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCAAGAGAGGTGGGCCCCAGC	0.682																																					.		.											.	TEKT4-155	0			c.713+2T>G						.						56.0	54.0	55.0					2																	95539855		2203	4300	6503	SO:0001630	splice_region_variant	150483	exon3			GAGAGGTGGGCCC	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.713+2T>G	2.37:g.95539855T>G		72	1		114	6	NM_144705	0	0	0	6	6		Splice_Site	SNP	ENST00000295201.4	37	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	13.70	2.316724	0.40996	.	.	ENSG00000163060	ENST00000295201	.	.	.	2.24	2.24	0.28232	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0143	0.30372	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TEKT4	94903582	1.000000	0.71417	0.603000	0.28903	0.057000	0.15508	4.740000	0.62087	0.779000	0.33543	0.254000	0.18369	.	T|0.970;G|0.030		0.682	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705	Intron
TBC1D8	11138	bcgsc.ca	37	2	101627925	101627925	+	Missense_Mutation	SNP	C	C	T	rs1062062	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr2:101627925C>T	ENST00000376840.4	-	18	2859	c.2860G>A	c.(2860-2862)Ggg>Agg	p.G954R	RPL31_ENST00000409028.4_Intron|TBC1D8_ENST00000409318.1_Missense_Mutation_p.G969R|RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409038.1_Intron			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	954			G -> R (in dbSNP:rs1062062).		blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TTGGGTTTCCCGAAAACCAGG	0.512													C|||	220	0.0439297	0.0015	0.0634	5008	,	,		19114	0.001		0.1262	False		,,,				2504	0.047				p.G954R		.											.	TBC1D8-25	0			c.G2860A						.	C	,ARG/GLY	101,3747		0,101,1823	100.0	106.0	104.0		,2860	5.7	0.1	2	dbSNP_86	104	1073,7173		85,903,3135	yes	intron,missense	RPL31,TBC1D8	NM_001098577.2,NM_001102426.1	,125	85,1004,4958	TT,TC,CC		13.0124,2.6247,9.7073	,benign	,954/1141	101627925	1174,10920	1924	4123	6047	SO:0001583	missense	11138	exon18			GTTTCCCGAAAAC	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.2860G>A	2.37:g.101627925C>T	ENSP00000366036:p.Gly954Arg	122	0		106	6	NM_001102426	0	0	0	0	0	A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	CCDS46375.1	119	0.05448717948717949	1	0.0020325203252032522	27	0.07458563535911603	0	0.0	91	0.12005277044854881	C	14.07	2.427061	0.43122	0.026247	0.130124	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03212	4.01;4.01	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000006	T	0.00073	0.0002	L	0.42245	1.32	0.42692	P	0.0064109999999999445	B	0.15930	0.015	B	0.09377	0.004	T	0.46428	-0.9192	9	0.34782	T	0.22	-41.0133	14.9126	0.70770	0.1432:0.8568:0.0:0.0	rs1062062;rs3203171;rs17719773;rs52808790;rs1062062	954	O95759	TBCD8_HUMAN	R	954;969	ENSP00000366036:G954R;ENSP00000386856:G969R	ENSP00000366036:G954R	G	-	1	0	TBC1D8	100994357	0.083000	0.21467	0.082000	0.20525	0.967000	0.64934	2.987000	0.49378	2.828000	0.97474	0.655000	0.94253	GGG	C|0.941;T|0.059		0.512	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063	
GPR45	11250	hgsc.bcm.edu	37	2	105858993	105858993	+	Silent	SNP	C	C	G	rs140158310	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr2:105858993C>G	ENST00000258456.1	+	1	794	c.678C>G	c.(676-678)gcC>gcG	p.A226A		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GCAAGAACGCCGTGCGCGTGC	0.662													C|||	9	0.00179712	0.0	0.0029	5008	,	,		17965	0.0		0.007	False		,,,				2504	0.0				p.A226A		.											.	GPR45-154	0			c.C678G						.	C		3,4403	6.2+/-15.9	0,3,2200	68.0	68.0	68.0		678	-10.2	0.0	2	dbSNP_134	68	29,8571	20.4+/-63.3	0,29,4271	no	coding-synonymous	GPR45	NM_007227.3		0,32,6471	GG,GC,CC		0.3372,0.0681,0.246		226/373	105858993	32,12974	2203	4300	6503	SO:0001819	synonymous_variant	11250	exon1			GAACGCCGTGCGC	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.678C>G	2.37:g.105858993C>G		4	0		18	14	NM_007227	0	0	0	0	0	Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	37	CCDS2066.1																																																																																			C|0.999;G|0.001		0.662	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227	
ESPNL	339768	hgsc.bcm.edu	37	2	239009336	239009336	+	Silent	SNP	G	G	A	rs61744770	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	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		6	6	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	
C2orf54	79919	hgsc.bcm.edu	37	2	241827800	241827800	+	Missense_Mutation	SNP	C	C	T	rs372313713		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr2:241827800C>T	ENST00000388934.4	-	4	1318	c.1160G>A	c.(1159-1161)cGc>cAc	p.R387H	C2orf54_ENST00000307486.8_Missense_Mutation_p.R238H|C2orf54_ENST00000402775.2_Missense_Mutation_p.R219H	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	387										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GGAGCCGATGCGCGGCGGGGG	0.706																																					p.R387H		.											.	C2orf54-90	0			c.G1160A						.	C	HIS/ARG,HIS/ARG	0,3220		0,0,1610	4.0	5.0	5.0		1160,656	4.6	0.7	2		5	1,7131		0,1,3565	no	missense,missense	C2orf54	NM_001085437.1,NM_024861.2	29,29	0,1,5175	TT,TC,CC		0.014,0.0,0.0097	probably-damaging,probably-damaging	387/448,219/280	241827800	1,10351	1610	3566	5176	SO:0001583	missense	79919	exon4			CCGATGCGCGGCG	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.1160G>A	2.37:g.241827800C>T	ENSP00000373586:p.Arg387His	0	0		8	7	NM_001085437	0	0	0	0	0	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP	ENST00000388934.4	37	CCDS42839.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293372	0.40594	0.0	1.4E-4	ENSG00000172478	ENST00000402775;ENST00000307486;ENST00000388934	T;T;T	0.52295	0.67;1.23;1.25	4.61	4.61	0.57282	.	0.123853	0.36134	N	0.002772	T	0.50463	0.1617	L	0.32530	0.975	0.09310	N	1	D;D;D	0.76494	0.998;0.999;0.999	P;P;D	0.64595	0.805;0.892;0.927	T	0.42015	-0.9476	10	0.87932	D	0	-2.0E-4	6.1851	0.20493	0.0:0.701:0.1925:0.1065	.	387;238;219	Q08AI8;B3KU29;Q08AI8-3	CB054_HUMAN;.;.	H	219;238;387	ENSP00000385338:R219H;ENSP00000302779:R238H;ENSP00000373586:R387H	ENSP00000302779:R238H	R	-	2	0	C2orf54	241476473	0.060000	0.20803	0.721000	0.30653	0.113000	0.19764	1.331000	0.33793	2.124000	0.65301	0.585000	0.79938	CGC	.		0.706	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437	
FRG1B	284802	bcgsc.ca	37	20	29632707	29632707	+	Silent	SNP	G	G	A	rs6057187		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr20:29632707G>A	ENST00000278882.3	+	8	902	c.522G>A	c.(520-522)gaG>gaA	p.E174E	FRG1B_ENST00000358464.4_Silent_p.E174E			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	174								p.E174E(10)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTTTGCATGAGACGCTTCTGG	0.313																																					.		.											.	FRG1B-22	10	Substitution - coding silent(10)	endometrium(6)|kidney(4)	.						.																																			SO:0001819	synonymous_variant	284802	.			GCATGAGACGCTT			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.522G>A	20.37:g.29632707G>A		291	4		385	20	.	0	0	34	36	2	C4AME5	RNA	SNP	ENST00000278882.3	37																																																																																				G|0.500;A|0.500		0.313	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
ID1	3397	hgsc.bcm.edu	37	20	30193224	30193224	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr20:30193224G>A	ENST00000376112.3	+	1	139	c.34G>A	c.(34-36)Gcc>Acc	p.A12T	MIR3193_ENST00000578262.1_RNA|ID1_ENST00000376105.3_Missense_Mutation_p.A12T	NM_002165.3	NP_002156.2	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	12					angiogenesis (GO:0001525)|blood vessel endothelial cell migration (GO:0043534)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|collagen metabolic process (GO:0032963)|endothelial cell morphogenesis (GO:0001886)|heart development (GO:0007507)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein destabilization (GO:0031648)|regulation of angiogenesis (GO:0045765)|regulation of MAPK cascade (GO:0043408)|response to antibiotic (GO:0046677)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|ovary(1)|pancreas(1)	4	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;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CGCCACCGCCGCCGCGGGCCC	0.642																																					p.A12T	NSCLC(123;1618 1779 21803 28680 33854)	.											.	ID1-651	0			c.G34A						.						16.0	20.0	18.0					20																	30193224		1717	3681	5398	SO:0001583	missense	3397	exon1			ACCGCCGCCGCGG		CCDS13185.1, CCDS13186.1	20q11	2013-05-21			ENSG00000125968	ENSG00000125968		"""Basic helix-loop-helix proteins"""	5360	protein-coding gene	gene with protein product	"""DNA-binding protein inhibitor ID-1"""	600349				8294468	Standard	NM_002165		Approved	dJ857M17.1.2, bHLHb24	uc002wwg.2	P41134	OTTHUMG00000032181	ENST00000376112.3:c.34G>A	20.37:g.30193224G>A	ENSP00000365280:p.Ala12Thr	0	0		20	11	NM_002165	0	0	0	0	0	A8K537|E1P5L4|O00651|O00652|Q16371|Q16377|Q5TE66|Q5TE67|Q969Z7|Q9H0Z5|Q9H109	Missense_Mutation	SNP	ENST00000376112.3	37	CCDS13185.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520037	0.44866	.	.	ENSG00000125968	ENST00000376112;ENST00000376105	T;T	0.45668	0.9;0.89	4.13	2.14	0.27477	.	0.279569	0.34853	N	0.003631	T	0.29223	0.0727	L	0.38175	1.15	0.31003	N	0.720111	B;B	0.13145	0.007;0.002	B;B	0.08055	0.003;0.001	T	0.21759	-1.0236	10	0.25106	T	0.35	-1.9434	9.9785	0.41800	0.1753:0.0:0.8247:0.0	.	12;12	P41134-2;P41134	.;ID1_HUMAN	T	12	ENSP00000365280:A12T;ENSP00000365273:A12T	ENSP00000365273:A12T	A	+	1	0	ID1	29656885	0.466000	0.25823	0.989000	0.46669	0.742000	0.42306	0.917000	0.28665	0.670000	0.31165	0.561000	0.74099	GCC	.		0.642	ID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078550.1	NM_002165	
ACTR5	79913	hgsc.bcm.edu	37	20	37377139	37377139	+	Silent	SNP	C	C	T	rs2254105	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr20:37377139C>T	ENST00000243903.4	+	1	55	c.18C>T	c.(16-18)ttC>ttT	p.F6F		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	6					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CGAACGTGTTCCCGTTCCGCG	0.756													C|||	1227	0.245008	0.205	0.2334	5008	,	,		10427	0.2679		0.2565	False		,,,				2504	0.272				p.F6F		.											.	ACTR5-90	0			c.C18T						.						3.0	4.0	4.0					20																	37377139		1470	2633	4103	SO:0001819	synonymous_variant	79913	exon1			CGTGTTCCCGTTC	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.18C>T	20.37:g.37377139C>T		0	0		4	4	NM_024855	0	0	0	0	0	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	ENST00000243903.4	37	CCDS13308.1																																																																																			C|0.769;T|0.231		0.756	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855	
RIMS4	140730	hgsc.bcm.edu	37	20	43378972	43378972	+	IGR	SNP	C	C	T			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr20:43378972C>T	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Silent_p.A162A	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TGGTGGTGGCCGGGCTGCTGG	0.687																																					p.A162A		.											.	KCNK15-90	0			c.C486T						.						23.0	23.0	23.0					20																	43378972		2200	4297	6497	SO:0001628	intergenic_variant	60598	exon2			GGTGGCCGGGCTG		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43378972C>T		4	1		119	89	NM_022358	0	0	6	9	3	A4FU94|E1P613|Q3MI44|Q5JWT7	Silent	SNP	ENST00000372851.3	37	CCDS13338.1																																																																																			.		0.687	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970	
RIMS4	140730	hgsc.bcm.edu	37	20	43379264	43379264	+	IGR	SNP	A	A	C	rs6073538	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr20:43379264A>C	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Missense_Mutation_p.T260P	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CGCTGCCCGCACCCCCAgccc	0.751													C|||	3041	0.607228	0.7927	0.5115	5008	,	,		7929	0.6657		0.4861	False		,,,				2504	0.4888				p.T260P		.											.	KCNK15-90	0			c.A778C						.	C	PRO/THR	3088,1302		1192,704,299	19.0	21.0	20.0		778	-1.4	0.0	20	dbSNP_114	20	3876,4700		1050,1776,1462	no	missense	KCNK15	NM_022358.3	38	2242,2480,1761	CC,CA,AA		45.1959,29.6583,46.2903	benign	260/331	43379264	6964,6002	2195	4288	6483	SO:0001628	intergenic_variant	60598	exon2			GCCCGCACCCCCA		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43379264A>C		0	0		7	7	NM_022358	0	0	0	1	1	A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	CCDS13338.1	1310	0.5998168498168498	385	0.782520325203252	189	0.5220994475138122	365	0.6381118881118881	371	0.4894459102902375	C	9.503	1.103688	0.20632	0.703417	0.451959	ENSG00000124249	ENST00000372861	T	0.13196	2.61	4.23	-1.44	0.08856	.	2.503580	0.01747	N	0.029682	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.33701	-0.9858	6	0.33940	T	0.23	.	1.5958	0.02663	0.1325:0.4185:0.1294:0.3196	rs6073538;rs59823990	.	.	.	P	260	ENSP00000361952:T260P	ENSP00000361952:T260P	T	+	1	0	KCNK15	42812678	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.216000	0.01221	-0.410000	0.07542	-0.764000	0.03450	ACC	A|0.418;C|0.582		0.751	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970	
RIMS4	140730	hgsc.bcm.edu	37	20	43379268	43379268	+	IGR	SNP	C	C	A	rs13037900	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr20:43379268C>A	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Missense_Mutation_p.P261H	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GCCCGCACCCCCAgcccgcgc	0.756													C|||	496	0.0990415	0.056	0.1369	5008	,	,		7908	0.1756		0.0716	False		,,,				2504	0.0798				p.P261H		.											.	KCNK15-90	0			c.C782A						.																																			SO:0001628	intergenic_variant	60598	exon2			GCACCCCCAGCCC		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43379268C>A		0	0		7	5	NM_022358	0	0	0	0	0	A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	CCDS13338.1	220	0.10073260073260074	28	0.056910569105691054	42	0.11602209944751381	99	0.17307692307692307	51	0.06728232189973615	C	11.65	1.703275	0.30232	.	.	ENSG00000124249	ENST00000372861	T	0.12879	2.64	3.72	1.64	0.23874	.	33.513900	0.00589	U	0.000347	T	0.00039	0.0001	N	0.14661	0.345	0.80722	P	0.0	P	0.39782	0.688	B	0.34824	0.19	T	0.21109	-1.0255	9	0.45353	T	0.12	.	3.1546	0.06500	0.1631:0.4196:0.3188:0.0985	rs13037900	261	Q9H427	KCNKF_HUMAN	H	261	ENSP00000361952:P261H	ENSP00000361952:P261H	P	+	2	0	KCNK15	42812682	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.557000	0.23454	0.330000	0.23485	-0.176000	0.13171	CCC	C|0.901;A|0.099		0.756	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970	
ZNF831	128611	hgsc.bcm.edu	37	20	57767683	57767683	+	Missense_Mutation	SNP	C	C	A	rs183636700	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr20:57767683C>A	ENST00000371030.2	+	1	1609	c.1609C>A	c.(1609-1611)Ccc>Acc	p.P537T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	537							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GAGCCCCAGGCCCGGCCCAGC	0.721													.|||	16	0.00319489	0.0	0.0086	5008	,	,		12089	0.0		0.0099	False		,,,				2504	0.0				p.P537T		.											.	ZNF831-126	0			c.C1609A						.	C	THR/PRO	2,3056		0,2,1527	4.0	5.0	4.0		1609	-0.4	0.6	20		4	40,7038		0,40,3499	no	missense	ZNF831	NM_178457.1	38	0,42,5026	AA,AC,CC		0.5651,0.0654,0.4144	probably-damaging	537/1678	57767683	42,10094	1529	3539	5068	SO:0001583	missense	128611	exon1			CCCAGGCCCGGCC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1609C>A	20.37:g.57767683C>A	ENSP00000360069:p.Pro537Thr	1	1		41	22	NM_178457	0	0	0	0	0	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	7	0.003205128205128205	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	C	6.095	0.385753	0.11524	6.54E-4	0.005651	ENSG00000124203	ENST00000371030	T	0.04156	3.69	5.21	-0.43	0.12299	.	.	.	.	.	T	0.03178	0.0093	M	0.68593	2.085	0.09310	N	1	B	0.22346	0.068	B	0.15870	0.014	T	0.44159	-0.9346	9	0.25751	T	0.34	-0.1767	0.5281	0.00623	0.2043:0.3066:0.2121:0.277	.	537	Q5JPB2	ZN831_HUMAN	T	537	ENSP00000360069:P537T	ENSP00000360069:P537T	P	+	1	0	ZNF831	57201078	0.020000	0.18652	0.574000	0.28523	0.079000	0.17450	0.097000	0.15168	0.213000	0.20722	-0.136000	0.14681	CCC	C|0.997;A|0.003		0.721	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
RBBP8NL	140893	hgsc.bcm.edu	37	20	60990257	60990257	+	Silent	SNP	G	G	T	rs200432639	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr20:60990257G>T	ENST00000252998.1	-	9	870	c.714C>A	c.(712-714)ccC>ccA	p.P238P		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	238						extracellular space (GO:0005615)											TCCCATTGGCGGGGCCTCGGT	0.716													G|||	39	0.00778754	0.0204	0.0101	5008	,	,		12226	0.001		0.004	False		,,,				2504	0.0				p.P238P		.											.	.	0			c.C714A						.	G		38,4048		1,36,2006	5.0	6.0	6.0		714	-7.0	0.0	20		6	12,8118		0,12,4053	no	coding-synonymous	C20orf151	NM_080833.2		1,48,6059	TT,TG,GG		0.1476,0.93,0.4093		238/665	60990257	50,12166	2043	4065	6108	SO:0001819	synonymous_variant	140893	exon9			ATTGGCGGGGCCT	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.714C>A	20.37:g.60990257G>T		0	0		24	15	NM_080833	0	0	0	0	0	B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Silent	SNP	ENST00000252998.1	37	CCDS13498.1																																																																																			G|0.989;T|0.011		0.716	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833	
OGFR	11054	hgsc.bcm.edu	37	20	61436330	61436330	+	Missense_Mutation	SNP	A	A	G	rs201442562	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr20:61436330A>G	ENST00000290291.6	+	1	144	c.119A>G	c.(118-120)gAc>gGc	p.D40G	OGFR-AS1_ENST00000431361.1_RNA|OGFR_ENST00000370461.1_5'Flank	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	40				DAGDEDEESEEPRAARPSSFQSRMTGSRNWRATRDMCRYRH NYP -> GARRALGVLGQPGGLQMRLPERHGGPQGSLCLMD PCCPLSLALQ (in Ref. 5). {ECO:0000305}.	opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GACGCAGGGGACGAGGACGAG	0.781													A|||	71	0.0141773	0.0	0.0	5008	,	,		5513	0.0109		0.006	False		,,,				2504	0.0552				p.D40G		.											.	OGFR-68	0			c.A119G						.	A	GLY/ASP	5,3331		0,5,1663	14.0	15.0	15.0		119	0.2	0.0	20		15	37,6125		0,37,3044	no	missense	OGFR	NM_007346.2	94	0,42,4707	GG,GA,AA		0.6005,0.1499,0.4422	probably-damaging	40/678	61436330	42,9456	1668	3081	4749	SO:0001583	missense	11054	exon1			CAGGGGACGAGGA	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.119A>G	20.37:g.61436330A>G	ENSP00000290291:p.Asp40Gly	0	0		8	4	NM_007346	0	0	4	5	1	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	A	8.425	0.847384	0.17034	0.001499	0.006005	ENSG00000060491	ENST00000290291;ENST00000370468;ENST00000357163	T;T	0.47177	1.81;0.85	2.64	0.16	0.14972	.	0.520405	0.16065	N	0.231268	T	0.17323	0.0416	N	0.17082	0.46	0.18873	N	0.999982	P	0.43477	0.808	B	0.33799	0.17	T	0.09400	-1.0676	10	0.34782	T	0.22	.	8.8598	0.35249	0.3852:0.6148:0.0:0.0	.	40	Q9NZT2	OGFR_HUMAN	G	40	ENSP00000290291:D40G;ENSP00000359499:D40G	ENSP00000290291:D40G	D	+	2	0	OGFR	60906775	0.207000	0.23482	0.006000	0.13384	0.142000	0.21351	0.452000	0.21795	-0.002000	0.14469	0.448000	0.29417	GAC	.		0.781	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1		
CBR3	874	bcgsc.ca	37	21	37507769	37507769	+	Silent	SNP	C	C	T	rs881712	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr21:37507769C>T	ENST00000290354.5	+	1	560	c.279C>T	c.(277-279)gtC>gtT	p.V93V	CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000608690.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	93			V -> I (in dbSNP:rs2835285).		cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	ACGCGGCCGTCGCCTTCAAGA	0.667													C|||	1545	0.308506	0.0673	0.4524	5008	,	,		14412	0.4276		0.4304	False		,,,				2504	0.2843				p.V93V		.											.	CBR3-90	0			c.C279T						.	C		600,3806		50,500,1653	26.0	32.0	30.0		279	4.3	1.0	21	dbSNP_86	30	3809,4789		834,2141,1324	no	coding-synonymous	CBR3	NM_001236.3		884,2641,2977	TT,TC,CC		44.301,13.6178,33.905		93/278	37507769	4409,8595	2203	4299	6502	SO:0001819	synonymous_variant	874	exon1			GGCCGTCGCCTTC	AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1549	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 2"""	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617	ENST00000290354.5:c.279C>T	21.37:g.37507769C>T		101	1		132	6	NM_001236	0	0	0	0	0	Q6FHP2	Silent	SNP	ENST00000290354.5	37	CCDS13642.1																																																																																			C|0.666;T|0.334		0.667	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194632.1		
U2AF1	7307	hgsc.bcm.edu	37	21	44513243	44513243	+	Missense_Mutation	SNP	G	G	A	rs200044775		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr21:44513243G>A	ENST00000291552.4	-	8	784	c.692C>T	c.(691-693)tCg>tTg	p.S231L	U2AF1_ENST00000380276.2_Missense_Mutation_p.S231L|U2AF1_ENST00000398137.1_Missense_Mutation_p.S158L|U2AF1_ENST00000486519.1_5'Flank|U2AF1_ENST00000459639.1_Missense_Mutation_p.S158L	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	231	Arg/Gly/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S231L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						ACGATCTCTCGACCGCCTCCT	0.577			Mis		"""CLL, MDS"""																																p.S231L		.		Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	.	U2AF1-90	2	Substitution - Missense(2)	prostate(2)	c.C692T						.						51.0	54.0	53.0					21																	44513243		2203	4300	6503	SO:0001583	missense	7307	exon8			TCTCTCGACCGCC	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.692C>T	21.37:g.44513243G>A	ENSP00000291552:p.Ser231Leu	26	0		67	4	NM_001025203	0	0	11	11	0	Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676061	0.47886	.	.	ENSG00000160201	ENST00000459639;ENST00000380276;ENST00000291552;ENST00000398137	T;T;T;T	0.06068	3.35;3.35;3.35;3.35	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.12774	0.0310	L	0.39898	1.24	0.80722	D	1	P;P	0.50369	0.934;0.934	P;P	0.52672	0.706;0.706	T	0.10154	-1.0642	10	0.29301	T	0.29	-4.6449	18.2435	0.89977	0.0:0.0:1.0:0.0	.	231;231	Q01081;Q701P4	U2AF1_HUMAN;.	L	158;231;231;158	ENSP00000418705:S158L;ENSP00000369629:S231L;ENSP00000291552:S231L;ENSP00000381205:S158L	ENSP00000291552:S231L	S	-	2	0	U2AF1	43386312	1.000000	0.71417	0.996000	0.52242	0.764000	0.43329	5.888000	0.69758	2.371000	0.80710	0.563000	0.77884	TCG	G|0.999;A|0.001		0.577	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758	
KRTAP10-4	386672	hgsc.bcm.edu	37	21	45994282	45994282	+	Missense_Mutation	SNP	C	C	T	rs587631963	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr21:45994282C>T	ENST00000400374.3	+	1	677	c.647C>T	c.(646-648)cCg>cTg	p.P216L	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	216	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						AGCTGCCAGCCGGCTTGCTGC	0.652													.|||	30	0.00599042	0.0106	0.0029	5008	,	,		24307	0.0099		0.003	False		,,,				2504	0.001				p.P216L		.											.	KRTAP10-4-90	0			c.C647T						.						48.0	54.0	52.0					21																	45994282		2202	4293	6495	SO:0001583	missense	386672	exon1			GCCAGCCGGCTTG	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.647C>T	21.37:g.45994282C>T	ENSP00000383225:p.Pro216Leu	58	0		268	18	NM_198687	0	0	0	0	0	Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	12.93	2.086081	0.36855	.	.	ENSG00000215454	ENST00000400374	T	0.02158	4.42	3.66	3.66	0.41972	.	.	.	.	.	T	0.03871	0.0109	M	0.70275	2.135	0.21220	N	0.999754	P	0.51537	0.946	B	0.41088	0.347	T	0.39800	-0.9596	9	0.87932	D	0	.	7.3713	0.26802	0.0:0.8738:0.0:0.1262	.	216	P60372	KR104_HUMAN	L	216	ENSP00000383225:P216L	ENSP00000383225:P216L	P	+	2	0	KRTAP10-4	44818710	0.001000	0.12720	0.454000	0.27019	0.879000	0.50718	0.702000	0.25631	1.738000	0.51689	0.430000	0.28490	CCG	.		0.652	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687	
KRTAP10-7	386675	broad.mit.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																					.		.											.	.	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	.						.		,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				SO:0001651	inframe_deletion	386675	.			GCCCCCCTGCTGC	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del	19	0		62	14	.	0	0	0	0	0	Q0VDJ8|Q70LJ2	Splice_Site	DEL	ENST00000380102.2	37																																																																																				.		0.698	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
KRTAP10-7	386675	hgsc.bcm.edu	37	21	46020743	46020743	+	Silent	SNP	A	A	G			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr21:46020743A>G	ENST00000380102.2	+	1	247	c.222A>G	c.(220-222)ccA>ccG	p.P74P	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	74	30 X 5 AA repeats of C-C-X(3).			P -> R (in Ref. 1; BAD01541, 3; EAX09413 and 4; AAI19644). {ECO:0000305}.		keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CCTGCTGCCCAGTGACCTGTG	0.711																																					p.P69P		.											.	.	0			c.A207G						.						10.0	12.0	11.0					21																	46020743		1835	4018	5853	SO:0001819	synonymous_variant	386675	exon2			CTGCCCAGTGACC	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.222A>G	21.37:g.46020743A>G		23	2		101	7	NM_198689	0	0	0	0	0	Q0VDJ8|Q70LJ2	Silent	SNP	ENST00000380102.2	37																																																																																				.		0.711	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
COL18A1	80781	hgsc.bcm.edu	37	21	46924426	46924443	+	In_Frame_Del	DEL	GGCCCCCCAGGCCCCCCA	GGCCCCCCAGGCCCCCCA	-	rs28696990|rs149296338|rs201180574|rs78227997	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	GGCCCCCCAGGCCCCCCA	GGCCCCCCAGGCCCCCCA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr21:46924426_46924443delGGCCCCCCAGGCCCCCCA	ENST00000359759.4	+	33	4090_4107	c.4069_4086delGGCCCCCCAGGCCCCCCA	c.(4069-4086)ggccccccaggccccccadel	p.GPPGPP1357del	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_In_Frame_Del_p.GPPGPP942del|COL18A1_ENST00000355480.5_In_Frame_Del_p.GPPGPP1122del			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1357	Triple-helical region 9 (COL9).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		cggcccccccggccccccaggccccccaggcccACGTG	0.711																																					p.1122_1124del		.											.	COL18A1-90	0			c.3364_3372del						.		,	1745,34,411		861,16,7,7,4,200					,	-5.1	0.1		dbSNP_134	5	4290,100,912		2107,64,12,15,6,447	no	codingComplex,codingComplex	COL18A1	NM_130445.2,NM_030582.3	,	2968,80,19,22,10,647	A1A1,A1A2,A1R,A2A2,A2R,RR		19.0871,20.3196,19.4474	,	,		6035,134,1323				SO:0001651	inframe_deletion	80781	exon33			CCCCCCGGCCCCC		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4069_4086delGGCCCCCCAGGCCCCCCA	21.37:g.46924426_46924443delGGCCCCCCAGGCCCCCCA	ENSP00000352798:p.Gly1357_Pro1362del	3	0		22	15	NM_030582	0	0	0	0	0	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	In_Frame_Del	DEL	ENST00000359759.4	37																																																																																				-|0.985;GGCCCCCCA|0.015		0.711	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1		
SEC14L6	730005	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	22	30921859	30921859	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr22:30921859C>T	ENST00000402034.2	-	9	724	c.725G>A	c.(724-726)gGg>gAg	p.G242E		NM_001193336.2	NP_001180265.2	B5MCN3	S14L6_HUMAN	SEC14-like 6 (S. cerevisiae)	242	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			lung(3)	3						CATGGTCCCCCCAAACTCCAC	0.597																																					p.G242E		.											.	.	0			c.G725A						.																																			SO:0001583	missense	730005	exon9			GTCCCCCCAAACT		CCDS54518.1	22q12.2	2011-05-06			ENSG00000214491	ENSG00000214491			40047	protein-coding gene	gene with protein product							Standard	NM_001193336		Approved		uc021wnu.1	B5MCN3	OTTHUMG00000151267	ENST00000402034.2:c.725G>A	22.37:g.30921859C>T	ENSP00000385695:p.Gly242Glu	138	0		127	102	NM_001193336	0	0	0	0	0		Missense_Mutation	SNP	ENST00000402034.2	37	CCDS54518.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.39|13.39	2.222894|2.222894	0.39300|0.39300	.|.	.|.	ENSG00000214491|ENSG00000214491	ENST00000402034|ENST00000437871	T|.	0.80738|.	-1.41|.	3.99|3.99	2.96|2.96	0.34315|0.34315	.|.	.|.	.|.	.|.	.|.	T|.	0.79879|.	0.4522|.	M|M	0.92459|0.92459	3.31|3.31	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.82426|.	-0.0463|.	7|.	0.87932|.	D|.	0|.	-11.0295|-11.0295	11.2646|11.2646	0.49104|0.49104	0.0:0.907:0.0:0.093|0.0:0.907:0.0:0.093	.|.	.|.	.|.	.|.	E|X	242|46	ENSP00000385695:G242E|.	ENSP00000385695:G242E|.	G|W	-|-	2|3	0|0	SEC14L6|SEC14L6	29251859|29251859	1.000000|1.000000	0.71417|0.71417	0.201000|0.201000	0.23476|0.23476	0.017000|0.017000	0.09413|0.09413	4.584000|4.584000	0.60971|0.60971	0.656000|0.656000	0.30886|0.30886	0.430000|0.430000	0.28490|0.28490	GGG|TGG	.		0.597	SEC14L6-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000322022.2		
TRIOBP	11078	hgsc.bcm.edu	37	22	38122462	38122462	+	Missense_Mutation	SNP	A	A	G	rs739138	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr22:38122462A>G	ENST00000406386.3	+	7	4154	c.3899A>G	c.(3898-3900)cAc>cGc	p.H1300R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1300			H -> R (in dbSNP:rs739138).		actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGCCGCACCCACAGCCCTGGC	0.741													G|||	3010	0.601038	0.1944	0.5836	5008	,	,		13399	0.8859		0.7157	False		,,,				2504	0.7515				p.H1300R		.											.	TRIOBP-136	0			c.A3899G						.	G	ARG/HIS	1221,2235		265,691,772	4.0	6.0	5.0		3899	3.9	1.0	22	dbSNP_86	5	5694,1808		2238,1218,295	yes	missense	TRIOBP	NM_001039141.2	29	2503,1909,1067	GG,GA,AA		24.1002,35.3299,36.8954	benign	1300/2366	38122462	6915,4043	1728	3751	5479	SO:0001583	missense	11078	exon7			GCACCCACAGCCC	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3899A>G	22.37:g.38122462A>G	ENSP00000384312:p.His1300Arg	0	0		3	3	NM_001039141	0	0	0	0	0	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	1409	0.6451465201465202	110	0.22357723577235772	222	0.6132596685082873	531	0.9283216783216783	546	0.7203166226912929	G	12.86	2.065195	0.36470	0.353299	0.758998	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.11063	2.81	4.93	3.9	0.45041	.	.	.	.	.	T	0.00012	0.0000	N	0.01576	-0.805	0.09310	P	0.999999999370294	B	0.02656	0.0	B	0.01281	0.0	T	0.29671	-1.0004	8	0.02654	T	1	.	4.383	0.11304	0.2555:0.0:0.5874:0.1571	rs739138	1300	Q9H2D6	TARA_HUMAN	R	1300	ENSP00000384312:H1300R	ENSP00000384312:H1300R	H	+	2	0	TRIOBP	36452408	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.338000	0.33873	0.503000	0.28060	-0.366000	0.07423	CAC	A|0.354;G|0.646		0.741	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
NBEAL2	23218	broad.mit.edu	37	3	47036675	47036675	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr3:47036675G>T	ENST00000450053.3	+	13	1629	c.1450G>T	c.(1450-1452)Gcc>Tcc	p.A484S	NBEAL2_ENST00000292309.5_Missense_Mutation_p.A484S|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	484					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGCTGCCCTGCCAGCCGTGC	0.677																																					p.A484S		.											.	NBEAL2-69	0			c.G1450T						.						7.0	8.0	8.0					3																	47036675		1952	4070	6022	SO:0001583	missense	23218	exon13			TGCCCTGCCAGCC	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.1450G>T	3.37:g.47036675G>T	ENSP00000415034:p.Ala484Ser	12	0		78	6	NM_015175	0	0	0	0	0	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	4.150	0.026253	0.08054	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.49720	0.77;0.77	4.59	1.62	0.23740	Armadillo-like helical (1);Armadillo-type fold (1);	0.449291	0.22539	N	0.058757	T	0.25457	0.0619	L	0.28274	0.84	0.80722	D	1	B;B	0.25667	0.131;0.006	B;B	0.21151	0.033;0.005	T	0.04320	-1.0960	10	0.09843	T	0.71	.	5.4741	0.16686	0.1981:0.2893:0.5126:0.0	.	450;484	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	S	484;484;450	ENSP00000292309:A484S;ENSP00000415034:A484S	ENSP00000292309:A484S	A	+	1	0	NBEAL2	47011679	0.893000	0.30496	0.997000	0.53966	0.951000	0.60555	1.393000	0.34497	0.674000	0.31244	-0.224000	0.12420	GCC	.		0.677	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	
RHOA	387	broad.mit.edu	37	3	49395586	49395586	+	IGR	SNP	G	G	T			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr3:49395586G>T	ENST00000418115.1	-	0	2031				GPX1_ENST00000419783.1_Silent_p.I42I|GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Silent_p.I42I	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCACATTCTCGATAAGTAGTA	0.711																																					.		.											.	GPX1-68	0			.						.						12.0	14.0	13.0					3																	49395586		1920	4108	6028	SO:0001628	intergenic_variant	2876	.			ATTCTCGATAAGT	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395586G>T		84	1		161	19	.	0	0	33	33	0	P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Silent	SNP	ENST00000418115.1	37	CCDS2795.1																																																																																			.		0.711	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664	
APEH	327	hgsc.bcm.edu	37	3	49723379	49723379	+	IGR	SNP	T	T	C	rs4052580		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr3:49723379T>C	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Silent_p.A388A|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACTGCTCCCCTGCGCCGTGGT	0.711																																					p.A388A		.											.	MST1-278	0			c.A1164G						.						14.0	16.0	15.0					3																	49723379		2180	4265	6445	SO:0001628	intergenic_variant	4485	exon10			CTCCCCTGCGCCG	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723379T>C		2	0		53	11	NM_020998	0	0	4	7	3	Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	CCDS2801.1																																																																																			T|1.000;|0.000		0.711	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2		
LRIG1	26018	hgsc.bcm.edu	37	3	66550756	66550756	+	Missense_Mutation	SNP	G	G	C	rs1403625	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr3:66550756G>C	ENST00000273261.3	-	1	600	c.76C>G	c.(76-78)Ctt>Gtt	p.L26V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L26V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	26				LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCCAGCCGAAGCAAAAGCAGC	0.761													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8093	0.8284		0.9732	False		,,,				2504	0.9601				p.L26V		.											.	LRIG1-230	0			c.C76G						.		VAL/LEU	1298,1386		255,788,299	3.0	4.0	4.0		76	2.9	0.5	3	dbSNP_88	4	5191,89		2555,81,4	yes	missense	LRIG1	NM_015541.2	32	2810,869,303	CC,CG,GG		1.6856,48.3607,18.5208	benign	26/1094	66550756	6489,1475	1342	2640	3982	SO:0001583	missense	26018	exon1			GCCGAAGCAAAAG	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.76C>G	3.37:g.66550756G>C	ENSP00000273261:p.Leu26Val	0	0		5	5	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1666	0.7628205128205128	118	0.23983739837398374	325	0.8977900552486188	489	0.8548951048951049	734	0.9683377308707124	g	6.572	0.473779	0.12521	0.483607	0.983144	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.67345	-0.26;-0.13	3.84	2.93	0.34026	.	0.847359	0.09512	U	0.792175	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	P;P	0.44139	0.827;0.484	B;B	0.37731	0.257;0.096	T	0.48854	-0.8998	9	0.23302	T	0.38	.	8.6883	0.34251	0.1185:0.0:0.8815:0.0	rs1403625;rs13083628	26;26	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	26	ENSP00000273261:L26V;ENSP00000373208:L26V	ENSP00000273261:L26V	L	-	1	0	LRIG1	66633446	.	.	0.520000	0.27837	0.020000	0.10135	.	.	1.845000	0.53610	0.472000	0.43445	CTT	G|0.237;C|0.763		0.761	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541	
LRIG1	26018	hgsc.bcm.edu	37	3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C	rs1403626	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr3:66550762G>C	ENST00000273261.3	-	1	594	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L24V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	24			L -> V (in dbSNP:rs1403626).	LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAAGCAAAAGCAGCCAGAGA	0.766													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8368	0.8284		0.9732	False		,,,				2504	0.9601				p.L24V		.											.	LRIG1-230	0			c.C70G						.		VAL/LEU	1309,1447		265,779,334	3.0	4.0	4.0		70	3.1	0.5	3	dbSNP_88	4	5325,93		2620,85,4	no	missense	LRIG1	NM_015541.2	32	2885,864,338	CC,CG,GG		1.7165,47.4964,18.8402	benign	24/1094	66550762	6634,1540	1378	2709	4087	SO:0001583	missense	26018	exon1			GCAAAAGCAGCCA	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.70C>G	3.37:g.66550762G>C	ENSP00000273261:p.Leu24Val	0	0		5	5	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1670	0.7646520146520146	119	0.241869918699187	326	0.9005524861878453	488	0.8531468531468531	737	0.9722955145118733	g	9.592	1.126319	0.20959	0.474964	0.982835	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.68765	-0.35;-0.2	3.11	3.11	0.35812	.	0.429988	0.15146	U	0.278020	T	0.00012	0.0000	N	0.19112	0.55	0.39998	P	0.024872000000000005	P;B	0.36282	0.546;0.282	B;B	0.32465	0.146;0.069	T	0.40572	-0.9556	9	0.23891	T	0.37	.	12.0321	0.53403	0.0:0.0:1.0:0.0	rs1403626;rs13083630;rs1403626	24;24	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	24	ENSP00000273261:L24V;ENSP00000373208:L24V	ENSP00000273261:L24V	L	-	1	0	LRIG1	66633452	.	.	0.546000	0.28166	0.017000	0.09413	.	.	1.734000	0.51633	0.472000	0.43445	CTT	G|0.252;C|0.748		0.766	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541	
PLXND1	23129	bcgsc.ca	37	3	129293256	129293256	+	Missense_Mutation	SNP	T	T	C	rs2255703	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr3:129293256T>C	ENST00000324093.4	-	12	2786	c.2608A>G	c.(2608-2610)Atg>Gtg	p.M870V	PLXND1_ENST00000393239.1_Missense_Mutation_p.M870V	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	870			M -> V (in dbSNP:rs2255703).		angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TCACTCCACATGCACAGGTGA	0.677													C|||	2564	0.511981	0.7247	0.3559	5008	,	,		16048	0.5109		0.4115	False		,,,				2504	0.4397				p.M870V	Ovarian(97;366 1484 3738 22084 39045)	.											.	PLXND1-90	0			c.A2608G						.	C	VAL/MET	2954,1450		1003,948,251	22.0	25.0	24.0		2608	0.9	0.7	3	dbSNP_100	24	3368,5228		673,2022,1603	yes	missense	PLXND1	NM_015103.2	21	1676,2970,1854	CC,CT,TT		39.181,32.9246,48.6308	benign	870/1926	129293256	6322,6678	2202	4298	6500	SO:0001583	missense	23129	exon12			TCCACATGCACAG	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.2608A>G	3.37:g.129293256T>C	ENSP00000317128:p.Met870Val	103	0		202	7	NM_015103	0	0	1	1	0	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	1045	0.4784798534798535	334	0.6788617886178862	131	0.36187845303867405	275	0.4807692307692308	305	0.4023746701846966	C	0.004	-2.338084	0.00224	0.670754	0.39181	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.29142	1.63;1.58	4.32	0.907	0.19321	.	0.700883	0.13388	N	0.391612	T	0.00012	0.0000	N	0.00436	-1.5	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32295	-0.9912	9	0.19590	T	0.45	.	2.0191	0.03505	0.1277:0.3212:0.1259:0.4252	rs2255703;rs52797788;rs60959372;rs2255703	870	Q9Y4D7	PLXD1_HUMAN	V	870	ENSP00000317128:M870V;ENSP00000376931:M870V	ENSP00000317128:M870V	M	-	1	0	PLXND1	130775946	0.011000	0.17503	0.724000	0.30704	0.025000	0.11179	0.079000	0.14782	0.076000	0.16826	-1.183000	0.01708	ATG	T|0.496;C|0.504		0.677	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	
KCNMB3	27094	bcgsc.ca	37	3	178968634	178968634	+	Missense_Mutation	SNP	C	C	T	rs7645550	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr3:178968634C>T	ENST00000314235.5	-	2	668	c.157G>A	c.(157-159)Gct>Act	p.A53T	KCNMB3_ENST00000497599.1_Missense_Mutation_p.A51T|KCNMB3_ENST00000392685.2_Missense_Mutation_p.A49T|KCNMB3_ENST00000349697.2_Missense_Mutation_p.A51T|KCNMB3_ENST00000485523.1_Missense_Mutation_p.A31T	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	53			A -> T (in dbSNP:rs7645550). {ECO:0000269|PubMed:10585773, ECO:0000269|PubMed:10692449, ECO:0000269|PubMed:10766764, ECO:0000269|PubMed:10792058, ECO:0000269|PubMed:10828459}.		action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)	p.A53T(1)		NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		Miconazole(DB01110)|Procaine(DB00721)	TCCTCTCCAGCACTGGATGGC	0.517													C|||	1579	0.315296	0.416	0.3127	5008	,	,		18625	0.123		0.3708	False		,,,				2504	0.3221				p.A53T		.											.	KCNMB3-90	1	Substitution - Missense(1)	stomach(1)	c.G157A						.	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1710,2696	514.5+/-368.7	332,1046,825	101.0	94.0	96.0		151,157,151,91,145	6.1	1.0	3	dbSNP_116	96	3284,5316	492.8+/-373.4	622,2040,1638	yes	missense,missense,missense,missense,missense	KCNMB3	NM_001163677.1,NM_014407.3,NM_171828.1,NM_171829.2,NM_171830.1	58,58,58,58,58	954,3086,2463	TT,TC,CC		38.186,38.8107,38.3977	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	51/174,53/280,51/278,31/258,49/276	178968634	4994,8012	2203	4300	6503	SO:0001583	missense	27094	exon2			CTCCAGCACTGGA	AF139471	CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1	3q26.3-q27	2010-09-30			ENSG00000171121	ENSG00000171121		"""Potassium channels"""	6287	protein-coding gene	gene with protein product		605222		KCNMB2, KCNMBL		10585773	Standard	NM_001163677		Approved		uc003fjm.3	Q9NPA1	OTTHUMG00000157337	ENST00000314235.5:c.157G>A	3.37:g.178968634C>T	ENSP00000319370:p.Ala53Thr	201	2		166	7	NM_014407	0	0	2	2	0	B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000314235.5	37	CCDS3226.1	640	0.29304029304029305	201	0.40853658536585363	113	0.31215469613259667	48	0.08391608391608392	278	0.36675461741424803	C	18.08	3.544434	0.65198	0.388107	0.38186	ENSG00000171121	ENST00000497599;ENST00000392685;ENST00000349697;ENST00000314235;ENST00000485523	T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89	6.08	6.08	0.98989	.	0.117706	0.56097	D	0.000026	T	0.00012	0.0000	M	0.76574	2.34	0.23950	P	0.99637341	D;D;D;D;D	0.89917	1.0;0.997;0.993;0.998;1.0	D;D;D;D;D	0.83275	0.996;0.942;0.91;0.957;0.99	T	0.46331	-0.9199	9	0.39692	T	0.17	-13.1111	18.1573	0.89696	0.0:1.0:0.0:0.0	rs7645550;rs17565626;rs52829256;rs61485480;rs7645550	51;51;31;49;53	E9PER5;Q9NPA1-2;Q9NPA1-4;Q9NPA1-3;Q9NPA1	.;.;.;.;KCMB3_HUMAN	T	51;49;51;53;31	ENSP00000417091:A51T;ENSP00000376451:A49T;ENSP00000327866:A51T;ENSP00000319370:A53T;ENSP00000418536:A31T	ENSP00000319370:A53T	A	-	1	0	KCNMB3	180451328	1.000000	0.71417	0.999000	0.59377	0.099000	0.18886	4.589000	0.61006	2.894000	0.99253	0.655000	0.94253	GCT	C|0.649;T|0.351		0.517	KCNMB3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348484.1		
MCCC1	56922	bcgsc.ca	37	3	182755209	182755209	+	Missense_Mutation	SNP	T	T	G	rs2270968	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr3:182755209T>G	ENST00000265594.4	-	13	1537	c.1391A>C	c.(1390-1392)cAc>cCc	p.H464P	MCCC1_ENST00000489909.1_5'Flank|MCCC1_ENST00000539926.1_Missense_Mutation_p.H329P|MCCC1_ENST00000492597.1_Missense_Mutation_p.H355P	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	464	Biotin carboxylation.		H -> P (in dbSNP:rs2270968). {ECO:0000269|PubMed:11181649, ECO:0000269|PubMed:11406611, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.6}.		biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	AATGTTGGTGTGCAGTCCAAC	0.433													T|||	2328	0.464856	0.1929	0.6297	5008	,	,		20070	0.3323		0.7346	False		,,,				2504	0.5746				p.H464P		.											.	MCCC1-92	0			c.A1391C						.	T	PRO/HIS	1267,3139	433.7+/-343.7	204,859,1140	91.0	81.0	84.0		1391	3.5	1.0	3	dbSNP_100	84	6339,2261	707.6+/-405.6	2336,1667,297	yes	missense	MCCC1	NM_020166.3	77	2540,2526,1437	GG,GT,TT		26.2907,28.7562,41.5193	benign	464/726	182755209	7606,5400	2203	4300	6503	SO:0001583	missense	56922	exon13			TTGGTGTGCAGTC	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1391A>C	3.37:g.182755209T>G	ENSP00000265594:p.His464Pro	157	0		127	6	NM_020166	0	0	0	0	0	Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	CCDS3241.1	1043	0.4775641025641026	109	0.22154471544715448	209	0.5773480662983426	182	0.3181818181818182	543	0.716358839050132	T	9.294	1.051243	0.19827	0.287562	0.737093	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.93	3.51	0.40186	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.212673	0.64402	D	0.000020	T	0.00012	0.0000	N	0.00175	-1.925	0.36830	P	0.11313200000000001	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.09377	0.003;0.001;0.004	T	0.46582	-0.9181	9	0.28530	T	0.3	.	8.3092	0.32060	0.0:0.3158:0.0:0.6842	rs2270968;rs3207461;rs11540929;rs17408941;rs17845000;rs17857761;rs17857766;rs52791788;rs2270968	417;355;464	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	P	464;355;314;329;417;417	ENSP00000265594:H464P;ENSP00000419898:H355P;ENSP00000441253:H329P;ENSP00000420433:H417P	ENSP00000265594:H464P	H	-	2	0	MCCC1	184237903	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	1.118000	0.31246	0.474000	0.27392	0.459000	0.35465	CAC	T|0.479;G|0.521		0.433	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166	
MAP6D1	79929	hgsc.bcm.edu	37	3	183543291	183543291	+	Silent	SNP	G	G	A	rs263006	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr3:183543291G>A	ENST00000318631.3	-	1	75	c.45C>T	c.(43-45)cgC>cgT	p.R15R	MAP6D1_ENST00000431348.1_Silent_p.R15R|MAP6D1_ENST00000463801.1_5'Flank	NM_024871.2	NP_079147.1	Q9H9H5	MA6D1_HUMAN	MAP6 domain containing 1	15					dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|N-terminal peptidyl-L-cysteine N-palmitoylation (GO:0018009)|negative regulation of microtubule depolymerization (GO:0007026)	cis-Golgi network (GO:0005801)|Golgi-associated vesicle (GO:0005798)|microtubule (GO:0005874)				endometrium(1)|lung(1)	2	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;5.15e-42)|Epithelial(37;4.29e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCTGGTTCCAGCGCCGCGCCA	0.791													G|||	2244	0.448083	0.239	0.513	5008	,	,		5268	0.5149		0.5557	False		,,,				2504	0.5051				p.R15R		.											.	MAP6D1-90	0			c.C45T						.	G		519,1725		90,339,693	2.0	1.0	1.0		45	0.1	1.0	3	dbSNP_79	1	1825,2483		401,1023,730	no	coding-synonymous	MAP6D1	NM_024871.2		491,1362,1423	AA,AG,GG		42.363,23.1283,35.7753		15/200	183543291	2344,4208	1122	2154	3276	SO:0001819	synonymous_variant	79929	exon1			GTTCCAGCGCCGC	BC006434	CCDS3247.1	3q27.1	2005-12-22			ENSG00000180834	ENSG00000180834			25753	protein-coding gene	gene with protein product		610593				12477932	Standard	NM_024871		Approved	FLJ12748	uc003fmc.2	Q9H9H5	OTTHUMG00000156900	ENST00000318631.3:c.45C>T	3.37:g.183543291G>A		0	0		4	4	NM_024871	0	0	0	0	0		Silent	SNP	ENST00000318631.3	37	CCDS3247.1																																																																																			G|0.521;A|0.479		0.791	MAP6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346516.1	NM_024871	
EPHB3	2049	bcgsc.ca	37	3	184299167	184299167	+	Silent	SNP	T	T	C	rs1138510	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr3:184299167T>C	ENST00000330394.2	+	15	3311	c.2859T>C	c.(2857-2859)tcT>tcC	p.S953S	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	953	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGTTTGCATCTTTTGACCTGG	0.587													C|||	1660	0.33147	0.5499	0.2435	5008	,	,		18837	0.1677		0.3469	False		,,,				2504	0.2515				p.S953S		.											.	EPHB3-1455	0			c.T2859C						.	C		2312,2094	571.9+/-383.2	591,1130,482	93.0	75.0	81.0		2859	3.3	1.0	3	dbSNP_86	81	2718,5882	680.6+/-403.7	437,1844,2019	no	coding-synonymous	EPHB3	NM_004443.3		1028,2974,2501	CC,CT,TT		31.6047,47.5261,38.6745		953/999	184299167	5030,7976	2203	4300	6503	SO:0001819	synonymous_variant	2049	exon15			TGCATCTTTTGAC	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2859T>C	3.37:g.184299167T>C		226	0		197	6	NM_004443	0	0	0	0	0	Q7Z740	Silent	SNP	ENST00000330394.2	37	CCDS3268.1																																																																																			T|0.632;C|0.368		0.587	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443	
LRRC15	131578	bcgsc.ca	37	3	194081392	194081392	+	Silent	SNP	G	G	A	rs923936	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr3:194081392G>A	ENST00000347624.3	-	2	466	c.381C>T	c.(379-381)ctC>ctT	p.L127L	LRRC15_ENST00000439944.2_Silent_p.L133L|LRRC15_ENST00000428839.1_Silent_p.L133L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	127					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GGAGAGACTCGAGGCTGTCCA	0.617													G|||	583	0.116414	0.093	0.1052	5008	,	,		19110	0.0685		0.2097	False		,,,				2504	0.1094				p.L133L		.											.	LRRC15-71	0			c.C399T						.	G	,	430,3976	207.5+/-228.8	16,398,1789	50.0	54.0	53.0		399,381	-9.6	0.1	3	dbSNP_86	53	1997,6603	349.3+/-327.4	235,1527,2538	no	coding-synonymous,coding-synonymous	LRRC15	NM_001135057.2,NM_130830.4	,	251,1925,4327	AA,AG,GG		23.2209,9.7594,18.6606	,	133/588,127/582	194081392	2427,10579	2203	4300	6503	SO:0001819	synonymous_variant	131578	exon3			AGACTCGAGGCTG	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.381C>T	3.37:g.194081392G>A		182	1		149	5	NM_001135057	0	0	0	0	0	Q495Q6|Q7RTN7	Silent	SNP	ENST00000347624.3	37	CCDS3306.1																																																																																			G|0.832;A|0.168		0.617	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2		
MUC20	200958	hgsc.bcm.edu	37	3	195452155	195452155	+	Silent	SNP	G	G	C			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr3:195452155G>C	ENST00000447234.2	+	2	807	c.681G>C	c.(679-681)ccG>ccC	p.P227P	MUC20_ENST00000445522.2_Silent_p.P192P|MUC20_ENST00000436408.1_Silent_p.P227P|MUC20_ENST00000320736.6_Intron	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	227	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.|Missing. {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14565953, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCATCACCCCGTCACGGGCCT	0.687																																					p.P227P		.											.	.	0			c.G681C						.						1.0	1.0	1.0					3																	195452155		8	16	24	SO:0001819	synonymous_variant	200958	exon2			CACCCCGTCACGG	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.681G>C	3.37:g.195452155G>C		39	1		46	12	NM_152673	0	0	0	0	0	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Silent	SNP	ENST00000447234.2	37																																																																																				.		0.687	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673	
MFI2	4241	hgsc.bcm.edu	37	3	196754781	196754781	+	Splice_Site	SNP	A	A	G	rs149836828	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr3:196754781A>G	ENST00000296350.5	-	2	163	c.50T>C	c.(49-51)gTg>gCg	p.V17A	MFI2_ENST00000296351.4_Splice_Site_p.V17A	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	17					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GCCACCGAGCACTGCGGGCAG	0.711													a|||	7	0.00139776	0.0	0.0014	5008	,	,		13244	0.0		0.006	False		,,,				2504	0.0				p.V17A		.											.	MFI2-90	0			c.T50C						.		ALA/VAL,ALA/VAL	5,4381		0,5,2188	26.0	23.0	24.0		50,50	0.7	0.0	3	dbSNP_134	24	66,8524		0,66,4229	no	missense-near-splice,missense-near-splice	MFI2	NM_005929.5,NM_033316.3	64,64	0,71,6417	GG,GA,AA		0.7683,0.114,0.5472	benign,benign	17/739,17/303	196754781	71,12905	2193	4295	6488	SO:0001630	splice_region_variant	4241	exon2			CCGAGCACTGCGG		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.50-1T>C	3.37:g.196754781A>G		1	0		26	23	NM_033316	0	0	0	0	0	Q9BQE2	Missense_Mutation	SNP	ENST00000296350.5	37	CCDS3325.1	6	0.0027472527472527475	2	0.0040650406504065045	0	0.0	0	0.0	4	0.005277044854881266	a	7.972	0.749311	0.15710	0.00114	0.007683	ENSG00000163975	ENST00000296350;ENST00000296351;ENST00000439320	T;T;T	0.05925	4.5;3.76;3.37	4.83	0.672	0.17935	.	0.909290	0.09405	N	0.806614	T	0.02380	0.0073	N	0.17723	0.515	0.09310	N	0.999997	B;B;B	0.11235	0.004;0.002;0.001	B;B;B	0.08055	0.003;0.001;0.0	T	0.45716	-0.9242	10	0.02654	T	1	.	8.0542	0.30596	0.4653:0.0:0.5347:0.0	.	17;17;17	P08582-2;Q53XS6;P08582	.;.;TRFM_HUMAN	A	17	ENSP00000296350:V17A;ENSP00000296351:V17A;ENSP00000393439:V17A	ENSP00000296350:V17A	V	-	2	0	MFI2	198239178	0.000000	0.05858	0.045000	0.18777	0.091000	0.18340	-1.227000	0.02950	-0.197000	0.10350	0.454000	0.30748	GTG	A|0.996;G|0.004		0.711	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1		Missense_Mutation
IDUA	3425	broad.mit.edu	37	4	996204	996204	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr4:996204A>C	ENST00000247933.4	+	8	1208	c.1120A>C	c.(1120-1122)Acc>Ccc	p.T374P	IDUA_ENST00000453894.1_Missense_Mutation_p.T396P|IDUA_ENST00000514224.1_Missense_Mutation_p.T242P	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	374					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGTCAACAACACCCGCCCGCC	0.711																																					p.T374P		.											.	IDUA-91	0			c.A1120C						.						26.0	28.0	27.0					4																	996204		2185	4282	6467	SO:0001583	missense	3425	exon8			AACAACACCCGCC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1120A>C	4.37:g.996204A>C	ENSP00000247933:p.Thr374Pro	52	3		455	122	NM_000203	0	0	3	3	0	B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117066	0.77323	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000514224	D;D;D	0.94280	-3.39;-3.39;-3.39	5.31	5.31	0.75309	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.156849	0.56097	D	0.000026	D	0.96611	0.8894	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.96508	0.9376	10	0.46703	T	0.11	-7.29	13.2474	0.60029	1.0:0.0:0.0:0.0	.	396;374	B3KWK6;P35475	.;IDUA_HUMAN	P	374;396;242	ENSP00000247933:T374P;ENSP00000396458:T396P;ENSP00000425081:T242P	ENSP00000247933:T374P	T	+	1	0	IDUA	986204	1.000000	0.71417	0.995000	0.50966	0.426000	0.31534	5.967000	0.70403	2.024000	0.59613	0.454000	0.30748	ACC	.		0.711	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388664	1388664	+	Missense_Mutation	SNP	T	T	C	rs199774688	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr4:1388664T>C	ENST00000324803.4	+	1	3325	c.365T>C	c.(364-366)aTg>aCg	p.M122T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	122					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCGATGCGGAGTGCC	0.682													N|||	3	0.000599042	0.0008	0.0	5008	,	,		14509	0.0		0.001	False		,,,				2504	0.001				p.M122T		.											.	CRIPAK-90	0			c.T365C						.						141.0	131.0	134.0					4																	1388664		2203	4300	6503	SO:0001583	missense	285464	exon1			TGCCGATGCGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.365T>C	4.37:g.1388664T>C	ENSP00000323978:p.Met122Thr	14	0		297	20	NM_175918	0	0	3	3	0	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	3.697	-0.062261	0.07317	.	.	ENSG00000179979	ENST00000324803	T	0.16897	2.31	0.948	0.948	0.19561	Post-SET domain (1);	.	.	.	.	T	0.07188	0.0182	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.14023	0.01	T	0.39375	-0.9617	9	0.21540	T	0.41	.	6.1496	0.20304	0.0:0.0:0.0:1.0	.	122	Q8N1N5	CRPAK_HUMAN	T	122	ENSP00000323978:M122T	ENSP00000323978:M122T	M	+	2	0	CRIPAK	1378664	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.813000	0.04491	0.697000	0.31718	0.102000	0.15555	ATG	T|0.995;C|0.005		0.682	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388728	1388728	+	Silent	SNP	C	C	T	rs9760383	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr4:1388728C>T	ENST00000324803.4	+	1	3389	c.429C>T	c.(427-429)tgC>tgT	p.C143C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	143					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CGTGCCCATGCGGAGTGCCCG	0.701													N|||	654	0.130591	0.1558	0.1585	5008	,	,		13677	0.2073		0.0676	False		,,,				2504	0.0624				p.C143C		.											.	CRIPAK-90	0			c.C429T						.						38.0	38.0	38.0					4																	1388728		1909	3682	5591	SO:0001819	synonymous_variant	285464	exon1			CCCATGCGGAGTG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.429C>T	4.37:g.1388728C>T		1	0		91	27	NM_175918	0	0	3	38	35	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	5.654	0.305317	0.10678	.	.	ENSG00000179979	ENST00000382944	.	.	.	0.948	-1.08	0.09936	.	.	.	.	.	T	0.24736	0.0600	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19943	-1.0290	5	0.37606	T	0.19	.	2.3505	0.04282	0.2615:0.4143:0.0:0.3242	rs9760383	.	.	.	W	127	.	ENSP00000372402:R127W	R	+	1	2	CRIPAK	1378728	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	-1.656000	0.01980	-1.804000	0.01241	-1.950000	0.00486	CGG	C|0.991;T|0.009		0.701	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388755	1388755	+	Silent	SNP	C	C	G	rs373946226	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr4:1388755C>G	ENST00000324803.4	+	1	3416	c.456C>G	c.(454-456)ccC>ccG	p.P152P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	152					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACGTGCCCATGCGGAGTG	0.697													N|||	566	0.113019	0.0772	0.1657	5008	,	,		16075	0.0139		0.1441	False		,,,				2504	0.1943				p.P152P		.											.	CRIPAK-90	0			c.C456G						.						75.0	67.0	69.0					4																	1388755		2201	4282	6483	SO:0001819	synonymous_variant	285464	exon1			CGTGCCCATGCGG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.456C>G	4.37:g.1388755C>G		0	0		66	21	NM_175918	0	0	6	9	3	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	3.606	-0.080629	0.07141	.	.	ENSG00000179979	ENST00000382944	.	.	.	0.948	-1.9	0.07665	.	.	.	.	.	T	0.13713	0.0332	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26643	-1.0097	5	0.12430	T	0.62	.	2.6602	0.05024	0.0:0.3324:0.2607:0.407	.	.	.	.	D	136	.	ENSP00000372402:H136D	H	+	1	0	CRIPAK	1378755	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-4.277000	0.00261	-0.599000	0.05798	-1.737000	0.00689	CAT	C|0.960;G|0.040		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388867	1388867	+	Missense_Mutation	SNP	A	A	C	rs76058011	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr4:1388867A>C	ENST00000324803.4	+	1	3528	c.568A>C	c.(568-570)Atc>Ctc	p.I190L		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	190					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCCCGCCTGATCACACGTGC	0.662													N|||	145	0.0289537	0.0174	0.0447	5008	,	,		14453	0.0099		0.0586	False		,,,				2504	0.0225				p.I190L		.											.	CRIPAK-90	0			c.A568C						.						246.0	170.0	197.0					4																	1388867		2172	3827	5999	SO:0001583	missense	285464	exon1			CGCCTGATCACAC	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.568A>C	4.37:g.1388867A>C	ENSP00000323978:p.Ile190Leu	27	1		497	100	NM_175918	0	0	2	38	36	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	4.910	0.169067	0.09339	.	.	ENSG00000179979	ENST00000324803	T	0.19394	2.15	1.25	-1.56	0.08532	.	.	.	.	.	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34004	-0.9846	9	0.10636	T	0.68	.	0.5937	0.00732	0.3976:0.2382:0.1983:0.1659	.	190	Q8N1N5	CRPAK_HUMAN	L	190	ENSP00000323978:I190L	ENSP00000323978:I190L	I	+	1	0	CRIPAK	1378867	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.558000	0.00923	-1.849000	0.01171	-2.030000	0.00424	ATC	A|0.994;C|0.006		0.662	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388974	1388974	+	Silent	SNP	T	T	C	rs71614969	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr4:1388974T>C	ENST00000324803.4	+	1	3635	c.675T>C	c.(673-675)gaT>gaC	p.D225D		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	225					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCGATGCGGAGTGCC	0.667													N|||	706	0.140974	0.087	0.1888	5008	,	,		14021	0.0268		0.2326	False		,,,				2504	0.2035				p.D225D		.											.	CRIPAK-90	0			c.T675C						.						177.0	128.0	145.0					4																	1388974		2168	4272	6440	SO:0001819	synonymous_variant	285464	exon1			TGCCGATGCGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.675T>C	4.37:g.1388974T>C		8	1		58	9	NM_175918	0	0	3	3	0	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																			C|1.000;|0.000		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
CRIPAK	285464	hgsc.bcm.edu	37	4	1389003	1389003	+	Missense_Mutation	SNP	G	G	C	rs148482314	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr4:1389003G>C	ENST00000324803.4	+	1	3664	c.704G>C	c.(703-705)cGa>cCa	p.R235P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	235					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACGTGCCGATGCGGAGTG	0.667													c|||	2	0.000399361	0.0015	0.0	5008	,	,		15552	0.0		0.0	False		,,,				2504	0.0				p.R235P		.											.	CRIPAK-90	0			c.G704C						.						164.0	133.0	144.0					4																	1389003		2188	4292	6480	SO:0001583	missense	285464	exon1			CGTGCCGATGCGG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.704G>C	4.37:g.1389003G>C	ENSP00000323978:p.Arg235Pro	14	2		177	18	NM_175918	0	0	3	9	6	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	c	2.579	-0.297952	0.05532	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.19938	2.11	1.11	0.141	0.14811	Post-SET domain (1);	.	.	.	.	T	0.07728	0.0194	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.39623	-0.9605	9	0.13853	T	0.58	.	2.5983	0.04859	0.0:0.4459:0.326:0.2281	.	235	Q8N1N5	CRPAK_HUMAN	P	235;177	ENSP00000323978:R235P	ENSP00000323978:R235P	R	+	2	0	CRIPAK	1379003	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-2.002000	0.01464	0.030000	0.15379	-0.849000	0.03036	CGA	G|0.999;C|0.001		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
DOK7	285489	hgsc.bcm.edu	37	4	3495095	3495095	+	Missense_Mutation	SNP	G	G	A	rs9684786	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr4:3495095G>A	ENST00000340083.5	+	7	1447	c.1382G>A	c.(1381-1383)gGc>gAc	p.G461D	DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000389653.2_Missense_Mutation_p.G461D	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	461			G -> D (in dbSNP:rs9684786). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:22661499}.		neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCCCCCAGGGCAGCGAGGCC	0.736													.|||	979	0.195487	0.1301	0.2536	5008	,	,		12640	0.126		0.1859	False		,,,				2504	0.3241				p.G461D		.											.	DOK7-91	0			c.G1382A						.	G	,ASP/GLY	491,3733		21,449,1642	5.0	7.0	6.0		,1382	2.6	0.0	4	dbSNP_119	6	1533,6777		146,1241,2768	no	utr-3,missense	DOK7	NM_001164673.1,NM_173660.4	,94	167,1690,4410	AA,AG,GG		18.4477,11.6241,16.1481	,possibly-damaging	,461/505	3495095	2024,10510	2112	4155	6267	SO:0001583	missense	285489	exon7			CCCAGGGCAGCGA	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"""chromosome 4 open reading frame 25"""	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.1382G>A	4.37:g.3495095G>A	ENSP00000344432:p.Gly461Asp	1	1		12	12	NM_173660	0	0	0	0	0	A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Missense_Mutation	SNP	ENST00000340083.5	37	CCDS3370.2	361	0.1652930402930403	71	0.1443089430894309	89	0.24585635359116023	60	0.1048951048951049	141	0.18601583113456466	G	11.67	1.708532	0.30322	0.116241	0.184477	ENSG00000175920	ENST00000389653;ENST00000340083	T;T	0.65364	-0.15;-0.05	3.45	2.59	0.31030	.	0.256266	0.35096	N	0.003451	T	0.00039	0.0001	L	0.60455	1.87	0.80722	P	0.0	B;P;B	0.40731	0.192;0.728;0.005	B;P;B	0.44359	0.066;0.447;0.001	T	0.03706	-1.1011	9	0.51188	T	0.08	-7.7911	11.2519	0.49031	0.0:0.0:0.8164:0.1835	rs9684786;rs17846359;rs17859395	461;323;461	Q18PE1-3;Q18PE1-2;Q18PE1	.;.;DOK7_HUMAN	D	461	ENSP00000374304:G461D;ENSP00000344432:G461D	ENSP00000344432:G461D	G	+	2	0	DOK7	3464893	1.000000	0.71417	0.010000	0.14722	0.077000	0.17291	2.742000	0.47434	0.667000	0.31107	0.555000	0.69702	GGC	G|0.834;A|0.166		0.736	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660	
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs75328065|rs199840382|rs111245977|rs377667898|rs200554408|rs201436152	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)ctgctgtggdel	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					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)		p.L104_W106delLLW(1)		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)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727																																					p.104_106del		.											.	OTOP1-92	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	c.310_318del						.																																			SO:0001651	inframe_deletion	133060	exon1			CAGCATCCACAGC	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.310_318delCTGCTGTGG	4.37:g.4228274_4228282delCCACAGCAG	ENSP00000296358:p.Leu104_Trp106del	5	0		91	7	NM_177998	0	0	0	0	0	A1L476	In_Frame_Del	DEL	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.727	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	
OTOP1	133060	hgsc.bcm.edu	37	4	4228456	4228456	+	Silent	SNP	G	G	T	rs73191872		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr4:4228456G>T	ENST00000296358.4	-	1	160	c.136C>A	c.(136-138)Cgg>Agg	p.R46R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	46					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACAccgccccgccggggggcc	0.736																																					p.R46R		.											.	OTOP1-92	0			c.C136A						.						4.0	4.0	4.0					4																	4228456		1989	3880	5869	SO:0001819	synonymous_variant	133060	exon1			CGCCCCGCCGGGG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.136C>A	4.37:g.4228456G>T		0	0		68	8	NM_177998	0	0	0	0	0	A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.736	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	
MSX1	4487	hgsc.bcm.edu	37	4	4861745	4861745	+	Missense_Mutation	SNP	C	C	G	rs36059701	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr4:4861745C>G	ENST00000382723.4	+	1	353	c.119C>G	c.(118-120)gCa>gGa	p.A40G		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	40	Poly-Ala.				activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|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 negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		gcggccACGGCAGCCGCCATG	0.716													C|||	519	0.103634	0.0893	0.1037	5008	,	,		6085	0.0565		0.165	False		,,,				2504	0.1084				p.A40G		.											.	MSX1-90	0			c.C119G	GRCh37	CM045070	MSX1	M	rs36059701	.	C	GLY/ALA	241,2261		15,211,1025	3.0	4.0	4.0		119	2.9	0.4	4	dbSNP_126	4	677,4129		58,561,1784	no	missense	MSX1	NM_002448.3	60	73,772,2809	GG,GC,CC		14.0866,9.6323,12.5616	benign	40/304	4861745	918,6390	1251	2403	3654	SO:0001583	missense	4487	exon1			CCACGGCAGCCGC	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.119C>G	4.37:g.4861745C>G	ENSP00000372170:p.Ala40Gly	1	0		13	4	NM_002448	0	0	0	0	0	A0SZU5|A8K3M1|Q96NY4	Missense_Mutation	SNP	ENST00000382723.4	37	CCDS3378.2	290	0.13278388278388278	53	0.10772357723577236	45	0.12430939226519337	44	0.07692307692307693	148	0.19525065963060687	C	6.955	0.546124	0.13312	0.096323	0.140866	ENSG00000163132	ENST00000382723	D	0.95885	-3.84	4.66	2.92	0.33932	.	0.650131	0.15386	N	0.265060	T	0.00552	0.0018	N	0.24115	0.695	0.51767	P	6.20000000000065E-5	B	0.16166	0.016	B	0.15870	0.014	T	0.44003	-0.9356	9	0.11182	T	0.66	-4.3518	5.025	0.14379	0.1663:0.6515:0.0:0.1822	rs36059701	34	P28360	MSX1_HUMAN	G	40	ENSP00000372170:A40G	ENSP00000372170:A40G	A	+	2	0	MSX1	4912646	0.996000	0.38824	0.367000	0.25926	0.047000	0.14425	0.572000	0.23684	0.390000	0.25115	0.491000	0.48974	GCA	C|0.867;G|0.133		0.716	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3		
FAM184B	27146	hgsc.bcm.edu	37	4	17643848	17643848	+	Missense_Mutation	SNP	G	G	A	rs2286771	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr4:17643848G>A	ENST00000265018.3	-	13	2562	c.2350C>T	c.(2350-2352)Cgg>Tgg	p.R784W		NM_015688.1	NP_056503.1	Q9ULE4	F184B_HUMAN	family with sequence similarity 184, member B	784				R -> W (in Ref. 1; BAA86590). {ECO:0000305}.						NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						GGGCCGCCCCGCTCCTGAGGA	0.701													G|||	2697	0.538538	0.1725	0.6599	5008	,	,		10215	0.8522		0.6233	False		,,,				2504	0.5368				p.R784W		.											.	FAM184B-23	0			c.C2350T						.						1.0	2.0	2.0					4																	17643848		374	1044	1418	SO:0001583	missense	27146	exon13			CGCCCCGCTCCTG		CCDS47033.1	4p16	2009-04-22			ENSG00000047662	ENSG00000047662			29235	protein-coding gene	gene with protein product						10574462	Standard	NM_015688		Approved	KIAA1276	uc003gpm.4	Q9ULE4	OTTHUMG00000160287	ENST00000265018.3:c.2350C>T	4.37:g.17643848G>A	ENSP00000265018:p.Arg784Trp	2	0		6	3	NM_015688	0	0	0	0	0		Missense_Mutation	SNP	ENST00000265018.3	37	CCDS47033.1	1272	0.5824175824175825	75	0.1524390243902439	232	0.6408839779005525	493	0.8618881118881119	472	0.6226912928759895	G	13.83	2.354233	0.41700	.	.	ENSG00000047662	ENST00000265018	T	0.34072	1.38	3.29	-3.67	0.04476	.	3.541600	0.00901	N	0.002342	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	D	0.56968	0.978	B	0.40741	0.339	T	0.48547	-0.9026	9	0.72032	D	0.01	2.0681	6.7491	0.23477	0.107:0.2547:0.5506:0.0877	rs2286771;rs58699512;rs2286771	784	Q9ULE4	F184B_HUMAN	W	784	ENSP00000265018:R784W	ENSP00000265018:R784W	R	-	1	2	FAM184B	17252946	0.000000	0.05858	0.000000	0.03702	0.516000	0.34256	-0.323000	0.07997	-1.014000	0.03379	-0.369000	0.07265	CGG	G|0.440;A|0.560		0.701	FAM184B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360137.1	NM_015688	
TBC1D1	23216	hgsc.bcm.edu	37	4	38016372	38016372	+	Silent	SNP	G	G	A	rs61731587	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr4:38016372G>A	ENST00000261439.4	+	3	1015	c.660G>A	c.(658-660)gcG>gcA	p.A220A	TBC1D1_ENST00000508802.1_Silent_p.A220A	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	220					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCCATGCCGCGCCCACAGGGA	0.701													G|||	159	0.0317492	0.0575	0.0389	5008	,	,		10588	0.0258		0.0149	False		,,,				2504	0.0153				p.A220A		.											.	TBC1D1-91	0			c.G660A						.	G		182,4022		2,178,1922	11.0	15.0	14.0		660	-2.7	0.0	4	dbSNP_129	14	83,8373		0,83,4145	no	coding-synonymous	TBC1D1	NM_015173.2		2,261,6067	AA,AG,GG		0.9816,4.3292,2.0932		220/1169	38016372	265,12395	2102	4228	6330	SO:0001819	synonymous_variant	23216	exon3			TGCCGCGCCCACA	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.660G>A	4.37:g.38016372G>A		2	1		26	14	NM_015173	0	0	2	2	0	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	CCDS33972.1																																																																																			G|0.968;A|0.032		0.701	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173	
ZAR1	326340	hgsc.bcm.edu	37	4	48492434	48492434	+	Missense_Mutation	SNP	G	G	C	rs10008444	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr4:48492434G>C	ENST00000327939.4	+	1	166	c.126G>C	c.(124-126)caG>caC	p.Q42H		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	42					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						GCTGGCAGCAGCGCGGCAGGG	0.756													C|||	4938	0.986022	0.9493	0.9957	5008	,	,		9261	1.0		1.0	False		,,,				2504	1.0				p.Q42H		.											.	ZAR1-90	0			c.G126C						.	C	HIS/GLN	2851,89		1381,89,0	2.0	3.0	3.0		126	-0.2	0.0	4	dbSNP_119	3	6474,0		3237,0,0	no	missense	ZAR1	NM_175619.1	24	4618,89,0	CC,CG,GG		0.0,3.0272,0.9454	benign	42/425	48492434	9325,89	1470	3237	4707	SO:0001583	missense	326340	exon1			GCAGCAGCGCGGC	AY193890	CCDS3483.1	4p11	2014-02-20			ENSG00000182223	ENSG00000182223			20436	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 6"""	607520				12539046	Standard	NM_175619		Approved	Z3CXXC6	uc003gyd.3	Q86SH2	OTTHUMG00000102093	ENST00000327939.4:c.126G>C	4.37:g.48492434G>C	ENSP00000329803:p.Gln42His	0	0		4	4	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		
REST	5978	ucsc.edu	37	4	57797283	57797283	+	Missense_Mutation	SNP	G	G	A	rs544207693	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr4:57797283G>A	ENST00000309042.7	+	4	2573	c.2259G>A	c.(2257-2259)atG>atA	p.M753I		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	753	Pro-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.M753_P768delMEVVQKEPVKIELSPP(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CTCCTCCCATGGAGGTGGTCC	0.562													G|||	37	0.00738818	0.0061	0.0014	5008	,	,		17837	0.0069		0.0159	False		,,,				2504	0.0051				p.M753I		.											.	REST-232	1	Deletion - In frame(1)	central_nervous_system(1)	c.G2259A						.						255.0	269.0	264.0					4																	57797283		2202	4300	6502	SO:0001583	missense	5978	exon4			TCCCATGGAGGTG	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2259G>A	4.37:g.57797283G>A	ENSP00000311816:p.Met753Ile	130	9		73	16	NM_001193508	0	0	0	0	0	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	4.038	0.004725	0.07866	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.07908	3.15	2.74	0.984	0.19773	.	.	.	.	.	T	0.07143	0.0181	L	0.44542	1.39	0.09310	N	1	B;B	0.24426	0.103;0.038	B;B	0.16289	0.015;0.006	T	0.34129	-0.9841	9	0.35671	T	0.21	0.1743	6.7945	0.23717	0.2523:0.0:0.7477:0.0	.	730;753	F8WAN5;Q13127	.;REST_HUMAN	I	753;730	ENSP00000311816:M753I	ENSP00000311816:M753I	M	+	3	0	REST	57492040	0.099000	0.21834	0.001000	0.08648	0.059000	0.15707	0.297000	0.19101	0.222000	0.20900	0.491000	0.48974	ATG	.		0.562	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612	
YTHDC1	91746	broad.mit.edu	37	4	69202915	69202915	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr4:69202915T>A	ENST00000344157.4	-	4	1048	c.713A>T	c.(712-714)gAg>gTg	p.E238V	YTHDC1_ENST00000579690.1_Missense_Mutation_p.E238V|YTHDC1_ENST00000355665.3_Missense_Mutation_p.E238V	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	238	Glu-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ctcctcttcctcctcctcctc	0.478																																					p.E238V		.											.	YTHDC1-92	0			c.A713T						.						127.0	90.0	103.0					4																	69202915		2203	4300	6503	SO:0001583	missense	91746	exon4			TCTTCCTCCTCCT	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.713A>T	4.37:g.69202915T>A	ENSP00000339245:p.Glu238Val	98	0		74	4	NM_001031732	0	0	7	7	0	Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	T	3.425	-0.117277	0.06838	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.30714	1.76;1.52	4.54	3.34	0.38264	.	0.251995	0.29707	N	0.011412	T	0.16428	0.0395	N	0.14661	0.345	0.36590	D	0.874031	B;B	0.12013	0.005;0.003	B;B	0.11329	0.006;0.002	T	0.10154	-1.0642	10	0.31617	T	0.26	.	7.9574	0.30051	0.1828:0.0:0.0:0.8171	.	238;238	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	V	238	ENSP00000339245:E238V;ENSP00000347888:E238V	ENSP00000339245:E238V	E	-	2	0	YTHDC1	68885510	0.532000	0.26346	0.035000	0.18076	0.002000	0.02628	4.957000	0.63652	0.847000	0.35167	-0.542000	0.04241	GAG	.		0.478	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370	
MARCH1	55016	bcgsc.ca	37	4	164466824	164466824	+	Silent	SNP	C	C	T	rs13130399	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr4:164466824C>T	ENST00000503008.1	-	7	1471	c.495G>A	c.(493-495)gcG>gcA	p.A165A	MARCH1_ENST00000514618.1_Silent_p.A421A|MARCH1_ENST00000339875.5_Silent_p.A148A|MARCH1_ENST00000274056.7_Silent_p.A165A	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	165					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A148A(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CACAGGTGATCGCGATTACGT	0.428													C|||	1933	0.385982	0.2776	0.6037	5008	,	,		19890	0.3482		0.4583	False		,,,				2504	0.3425				p.A165A		.											.	MARCH1-501	2	Substitution - coding silent(2)	prostate(1)|stomach(1)	c.G495A						.	C	,	1242,3164	428.5+/-341.9	173,896,1134	301.0	226.0	252.0		495,444	0.3	1.0	4	dbSNP_121	252	4042,4558	557.0+/-387.0	965,2112,1223	no	coding-synonymous,coding-synonymous	MARCH1	NM_001166373.1,NM_017923.3	,	1138,3008,2357	TT,TC,CC		47.0,28.1888,40.6274	,	165/290,148/273	164466824	5284,7722	2203	4300	6503	SO:0001819	synonymous_variant	55016	exon7			GGTGATCGCGATT	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.495G>A	4.37:g.164466824C>T		252	0		245	9	NM_001166373	0	0	0	0	0	D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	CCDS54814.1																																																																																			C|0.612;T|0.388		0.428	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923	
ADAMTS16	170690	hgsc.bcm.edu	37	5	5140632	5140632	+	Silent	SNP	T	T	C	rs270208	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr5:5140632T>C	ENST00000274181.7	+	1	190	c.52T>C	c.(52-54)Ttg>Ctg	p.L18L	ADAMTS16_ENST00000511368.1_Silent_p.L18L|CTD-2297D10.1_ENST00000514848.1_RNA|CTD-2297D10.2_ENST00000512155.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	18					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTGGATGCTGTTGGCGCAGGT	0.766													C|||	3127	0.624401	0.6747	0.6571	5008	,	,		8861	0.8065		0.501	False		,,,				2504	0.4724				p.L18L		.											.	ADAMTS16-275	0			c.T52C						.	C		2046,874		775,496,189	2.0	5.0	4.0		52	1.2	1.0	5	dbSNP_79	4	3653,3047		1121,1411,818	no	coding-synonymous	ADAMTS16	NM_139056.2		1896,1907,1007	CC,CT,TT		45.4776,29.9315,40.7588		18/1225	5140632	5699,3921	1460	3350	4810	SO:0001819	synonymous_variant	170690	exon1			ATGCTGTTGGCGC	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.52T>C	5.37:g.5140632T>C		0	0		3	3	NM_139056	0	0	0	0	0	C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	CCDS43299.1																																																																																			T|0.352;C|0.648		0.766	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
ADCY2	108	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	7766806	7766806	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr5:7766806C>G	ENST00000338316.4	+	17	2190	c.2101C>G	c.(2101-2103)Ctg>Gtg	p.L701V	ADCY2_ENST00000537121.1_Missense_Mutation_p.L521V	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	701					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCAGTTTTTCCTGAGTGACTC	0.383																																					p.L701V		.											.	ADCY2-97	0			c.C2101G						.						89.0	86.0	87.0					5																	7766806		2203	4300	6503	SO:0001583	missense	108	exon17			TTTTTCCTGAGTG	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2101C>G	5.37:g.7766806C>G	ENSP00000342952:p.Leu701Val	39	0		72	32	NM_020546	0	0	0	0	0	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722828	0.30503	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.82344	-1.11;-1.6	5.46	2.73	0.32206	.	0.359311	0.26496	N	0.024046	T	0.67655	0.2916	N	0.17474	0.49	0.26890	N	0.967343	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.002	T	0.57596	-0.7784	10	0.42905	T	0.14	.	7.5374	0.27719	0.0:0.7348:0.0:0.2652	.	521;701	B7Z2C1;Q08462	.;ADCY2_HUMAN	V	701;534;521	ENSP00000342952:L701V;ENSP00000444803:L521V	ENSP00000342952:L701V	L	+	1	2	ADCY2	7819806	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.324000	0.19610	0.682000	0.31407	0.655000	0.94253	CTG	.		0.383	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
CDH12	1010	bcgsc.ca	37	5	21752050	21752050	+	Silent	SNP	A	A	G	rs6451992	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr5:21752050A>G	ENST00000382254.1	-	15	3267	c.2181T>C	c.(2179-2181)gaT>gaC	p.D727D	CDH12_ENST00000522262.1_Silent_p.D687D|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Silent_p.D727D	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	727					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D727D(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GGGCAGTTGGATCCACATCAT	0.493										HNSCC(59;0.17)			G|||	2748	0.548722	0.3782	0.6268	5008	,	,		15734	0.4355		0.7475	False		,,,				2504	0.636				p.D727D		.											.	CDH12-92	1	Substitution - coding silent(1)	stomach(1)	c.T2181C						.	G		2006,2400	614.5+/-392.4	454,1098,651	243.0	207.0	219.0		2181	0.3	0.6	5	dbSNP_116	219	6327,2273	383.0+/-340.6	2333,1661,306	no	coding-synonymous	CDH12	NM_004061.3		2787,2759,957	GG,GA,AA		26.4302,45.5288,35.9296		727/795	21752050	8333,4673	2203	4300	6503	SO:0001819	synonymous_variant	1010	exon15			AGTTGGATCCACA	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2181T>C	5.37:g.21752050A>G		237	3		329	11	NM_004061	0	0	2	2	0	B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	CCDS3890.1																																																																																			A|0.382;G|0.618		0.493	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	
PRDM6	93166	hgsc.bcm.edu	37	5	122425899	122425899	+	Missense_Mutation	SNP	C	C	G	rs113582737	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr5:122425899C>G	ENST00000407847.4	+	2	604	c.190C>G	c.(190-192)Cct>Gct	p.P64A	AC106786.1_ENST00000442777.2_RNA|AC106786.1_ENST00000458103.2_RNA	NM_001136239.1	NP_001129711.1	Q9NQX0	PRDM6_HUMAN	PR domain containing 6	64	Pro-rich.				negative regulation of smooth muscle cell differentiation (GO:0051151)|negative regulation of transcription, DNA-templated (GO:0045892)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	7						GCGCGCTGAGCCTCCGCCGGA	0.791													C|||	2	0.000399361	0.0	0.0	5008	,	,		6405	0.0		0.002	False		,,,				2504	0.0				p.P64A		.											.	.	0			c.C190G						.						1.0	1.0	1.0					5																	122425899		123	430	553	SO:0001583	missense	93166	exon2			GCTGAGCCTCCGC	AF272898	CCDS47259.1	5q21-q23	2013-01-08			ENSG00000061455	ENSG00000061455		"""Zinc fingers, C2H2-type"""	9350	protein-coding gene	gene with protein product							Standard	NM_001136239		Approved		uc003kti.3	Q9NQX0	OTTHUMG00000150469	ENST00000407847.4:c.190C>G	5.37:g.122425899C>G	ENSP00000384725:p.Pro64Ala	0	0		8	5	NM_001136239	0	0	0	0	0	B5MCJ4|Q9NQW9	Missense_Mutation	SNP	ENST00000407847.4	37	CCDS47259.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825406	0.32237	.	.	ENSG00000061455	ENST00000407847	T	0.08282	3.11	3.26	3.26	0.37387	.	.	.	.	.	T	0.04272	0.0118	N	0.08118	0	0.42599	D	0.993271	P	0.35107	0.484	B	0.37015	0.239	T	0.26643	-1.0097	9	0.02654	T	1	.	13.4096	0.60935	0.0:1.0:0.0:0.0	.	64	Q9NQX0	PRDM6_HUMAN	A	64	ENSP00000384725:P64A	ENSP00000384725:P64A	P	+	1	0	PRDM6	122453798	0.308000	0.24509	0.982000	0.44146	0.304000	0.27724	1.241000	0.32743	1.534000	0.49203	0.436000	0.28706	CCT	C|0.500;G|0.500		0.791	PRDM6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318226.2	XM_049619	
FBN2	2201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	127626549	127626549	+	Missense_Mutation	SNP	T	T	G	rs183350360		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr5:127626549T>G	ENST00000508053.1	-	56	7294	c.6320A>C	c.(6319-6321)aAt>aCt	p.N2107T	FBN2_ENST00000262464.4_Missense_Mutation_p.N2107T			P35556	FBN2_HUMAN	fibrillin 2	2107	TB 8.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATTTTCAAAATTTGTGAAGCA	0.408													T|||	1	0.000199681	0.0	0.0	5008	,	,		17110	0.0		0.001	False		,,,				2504	0.0				p.N2107T		.											.	FBN2-146	0			c.A6320C						.						85.0	84.0	85.0					5																	127626549		2203	4300	6503	SO:0001583	missense	2201	exon50			TCAAAATTTGTGA	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6320A>C	5.37:g.127626549T>G	ENSP00000424571:p.Asn2107Thr	79	0		137	66	NM_001999	0	0	0	1	1	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	10.28	1.306780	0.23821	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92647	-3.08;-3.08	5.01	5.01	0.66863	Matrix fibril-associated (2);TGF-beta binding (1);	0.000000	0.64402	D	0.000003	D	0.82582	0.5068	N	0.16567	0.415	0.28923	N	0.892012	B	0.22276	0.067	B	0.21360	0.034	T	0.69921	-0.5014	10	0.12766	T	0.61	.	9.655	0.39921	0.0:0.0777:0.0:0.9223	.	2107	P35556	FBN2_HUMAN	T	2107	ENSP00000262464:N2107T;ENSP00000424571:N2107T	ENSP00000262464:N2107T	N	-	2	0	FBN2	127654448	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.134000	0.50538	2.236000	0.73375	0.533000	0.62120	AAT	T|0.999;G|0.000		0.408	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
PCDHB2	56133	broad.mit.edu	37	5	140476411	140476411	+	Silent	SNP	A	A	C			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr5:140476411A>C	ENST00000194155.4	+	1	2185	c.2037A>C	c.(2035-2037)gcA>gcC	p.A679A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	679					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A679A(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGAGGCGGCACCGGCCCAGG	0.687																																					p.A679A		.											.	PCDHB2-96	1	Substitution - coding silent(1)	lung(1)	c.A2037C						.						65.0	67.0	66.0					5																	140476411		2178	4247	6425	SO:0001819	synonymous_variant	56133	exon1			GGCGGCACCGGCC	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2037A>C	5.37:g.140476411A>C		12	0		193	7	NM_018936	0	0	0	0	0	Q4KMU1	Silent	SNP	ENST00000194155.4	37	CCDS4244.1																																																																																			.		0.687	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936	
PCDHB6	56130	hgsc.bcm.edu	37	5	140531592	140531592	+	Missense_Mutation	SNP	C	C	T	rs55834559	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr5:140531592C>T	ENST00000231136.1	+	1	1754	c.1754C>T	c.(1753-1755)aCc>aTc	p.T585I	PCDHB6_ENST00000543635.1_Missense_Mutation_p.T449I	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	585	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACCTGGTGACCAAGGTGGTG	0.701													C|||	1343	0.268171	0.0136	0.3141	5008	,	,		14093	0.5308		0.2416	False		,,,				2504	0.3364				p.T585I		.											.	PCDHB6-91	0			c.C1754T						.						12.0	16.0	15.0					5																	140531592		1705	3628	5333	SO:0001583	missense	56130	exon1			TGGTGACCAAGGT	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1754C>T	5.37:g.140531592C>T	ENSP00000231136:p.Thr585Ile	0	0		57	23	NM_018939	0	0	7	7	0	B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	CCDS4248.1	556	0.25457875457875456	7	0.014227642276422764	92	0.2541436464088398	287	0.5017482517482518	170	0.22427440633245382	C	16.68	3.191021	0.58017	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.50548	0.74;0.74	4.19	-0.0448	0.13853	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	M	0.78223	2.4	0.38185	P	0.06025199999999997	P	0.38535	0.635	P	0.44811	0.461	T	0.49072	-0.8977	8	0.87932	D	0	.	15.6841	0.77396	0.0:0.4604:0.5396:0.0	rs55834559	585	Q9Y5E3	PCDB6_HUMAN	I	449;585	ENSP00000438466:T449I;ENSP00000231136:T585I	ENSP00000231136:T585I	T	+	2	0	PCDHB6	140511776	0.002000	0.14202	0.990000	0.47175	0.992000	0.81027	0.755000	0.26405	-0.274000	0.09232	-0.314000	0.08810	ACC	C|0.966;T|0.034		0.701	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939	
PCDHB8	56128	hgsc.bcm.edu	37	5	140559532	140559532	+	Missense_Mutation	SNP	G	G	C	rs2740582	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr5:140559532G>C	ENST00000239444.2	+	1	2162	c.1917G>C	c.(1915-1917)caG>caC	p.Q639H	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	639	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Q -> H (in dbSNP:rs2740582). {ECO:0000269|PubMed:11322959}.		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCAAGCAGAGGCTGGTGG	0.692													g|||	2318	0.462859	0.4607	0.5058	5008	,	,		16518	0.5655		0.3877	False		,,,				2504	0.407				p.Q639H		.											.	PCDHB8-131	0			c.G1917C						.						21.0	24.0	23.0					5																	140559532		2085	4128	6213	SO:0001583	missense	56128	exon1			CAAGCAGAGGCTG	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1917G>C	5.37:g.140559532G>C	ENSP00000239444:p.Gln639His	0	0		101	39	NM_019120	0	0	0	7	7	B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	968	0.4432234432234432	220	0.44715447154471544	162	0.44751381215469616	317	0.5541958041958042	269	0.3548812664907652	C	0.013	-1.627332	0.00813	.	.	ENSG00000120322	ENST00000239444	T	0.49720	0.77	4.22	-2.07	0.07276	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.16708	0.43	0.40763	P	0.016979999999999995	B	0.02656	0.0	B	0.08055	0.003	T	0.43686	-0.9376	8	0.05833	T	0.94	.	14.4643	0.67472	0.0:0.1647:0.7471:0.0882	rs2740582;rs17844503	639	Q9UN66	PCDB8_HUMAN	H	639	ENSP00000239444:Q639H	ENSP00000239444:Q639H	Q	+	3	2	PCDHB8	140539716	0.000000	0.05858	0.859000	0.33776	0.399000	0.30720	-2.963000	0.00671	-0.360000	0.08138	-0.748000	0.03510	CAG	G|0.808;C|0.192		0.692	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120	
PCDHB16	57717	hgsc.bcm.edu	37	5	140564048	140564048	+	Missense_Mutation	SNP	G	G	C	rs17844664	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr5:140564048G>C	ENST00000361016.2	+	1	3069	c.1914G>C	c.(1912-1914)caG>caC	p.Q638H		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	638	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.			Q -> H (in Ref. 3; BAB13447). {ECO:0000305}.	calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCCAAGCAGAGGCTGGTGG	0.697													C|||	1305	0.260583	0.0129	0.3012	5008	,	,		14481	0.5308		0.2306	False		,,,				2504	0.319				p.Q638H		.											.	PCDHB16-92	0			c.G1914C						.						25.0	27.0	26.0					5																	140564048		2066	4006	6072	SO:0001583	missense	57717	exon1			CAAGCAGAGGCTG	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1914G>C	5.37:g.140564048G>C	ENSP00000354293:p.Gln638His	2	1		94	49	NM_020957	0	0	1	3	2	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	568	0.2600732600732601	8	0.016260162601626018	88	0.2430939226519337	303	0.5297202797202797	169	0.22295514511873352	N	0.015	-1.544803	0.00934	.	.	ENSG00000196963	ENST00000361016	T	0.49720	0.77	3.96	-0.91	0.10511	Cadherin (4);Cadherin-like (1);	0.450223	0.16567	N	0.208799	T	0.00012	0.0000	N	0.16016	0.355	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.43491	-0.9388	9	0.06494	T	0.89	.	14.0885	0.64975	0.0:0.2676:0.6494:0.0829	rs17844664	638	Q9NRJ7	PCDBG_HUMAN	H	638	ENSP00000354293:Q638H	ENSP00000354293:Q638H	Q	+	3	2	PCDHB16	140544232	0.000000	0.05858	0.332000	0.25469	0.298000	0.27526	-1.785000	0.01767	-0.483000	0.06772	-0.702000	0.03669	CAG	.		0.697	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
PCDHB10	56126	hgsc.bcm.edu	37	5	140573844	140573844	+	Silent	SNP	C	C	T			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr5:140573844C>T	ENST00000239446.4	+	1	1903	c.1719C>T	c.(1717-1719)acC>acT	p.T573T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	573	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCCTGCACCGAGCTGGTGC	0.711																																					p.T573T		.											.	PCDHB10-92	0			c.C1719T						.						7.0	10.0	9.0					5																	140573844		1626	3527	5153	SO:0001819	synonymous_variant	56126	exon1			CTGCACCGAGCTG	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1719C>T	5.37:g.140573844C>T		1	0		32	14	NM_018930	0	0	6	6	0	Q96T99	Silent	SNP	ENST00000239446.4	37	CCDS4252.1																																																																																			.		0.711	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PCDHB11	56125	hgsc.bcm.edu	37	5	140581220	140581220	+	Missense_Mutation	SNP	C	C	A	rs799833	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr5:140581220C>A	ENST00000354757.3	+	1	1873	c.1873C>A	c.(1873-1875)Cgc>Agc	p.R625S	PCDHB11_ENST00000536699.1_Missense_Mutation_p.R260S	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	625	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGAGGTGCGCACCGCCAG	0.706													C|||	1302	0.259984	0.0136	0.2997	5008	,	,		16138	0.5278		0.2296	False		,,,				2504	0.32				p.R625S		.											.	PCDHB11-96	0			c.C1873A						.						5.0	7.0	7.0					5																	140581220		1461	3083	4544	SO:0001583	missense	56125	exon1			GAGGTGCGCACCG	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1873C>A	5.37:g.140581220C>A	ENSP00000346802:p.Arg625Ser	1	0		54	16	NM_018931	0	0	3	3	0	B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	CCDS4253.1	554	0.25366300366300365	8	0.016260162601626018	83	0.2292817679558011	300	0.5244755244755245	163	0.21503957783641162	c	17.44	3.391396	0.62066	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.46451	0.87;0.87	2.64	1.74	0.24563	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	M	0.71871	2.18	0.35735	P	0.18179500000000004	D	0.89917	1.0	D	0.85130	0.997	T	0.45411	-0.9263	8	0.87932	D	0	.	4.6762	0.12713	0.3507:0.5266:0.0:0.1227	rs799833	625	Q9Y5F2	PCDBB_HUMAN	S	260;625	ENSP00000440344:R260S;ENSP00000346802:R625S	ENSP00000346802:R625S	R	+	1	0	PCDHB11	140561404	0.000000	0.05858	0.999000	0.59377	0.974000	0.67602	-0.686000	0.05161	1.481000	0.48307	0.449000	0.29647	CGC	C|0.807;A|0.193		0.706	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931	
PCDHB12	56124	hgsc.bcm.edu	37	5	140590211	140590211	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr5:140590211T>C	ENST00000239450.2	+	1	1921	c.1732T>C	c.(1732-1734)Tgg>Cgg	p.W578R	PCDHB12_ENST00000541609.1_Missense_Mutation_p.W241R	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	578	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTGCCCTGGGCGGCCGA	0.701																																					p.W578R		.											.	PCDHB12-93	0			c.T1732C						.						25.0	33.0	30.0					5																	140590211		2177	4269	6446	SO:0001583	missense	56124	exon1			GTGCCCTGGGCGG	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1732T>C	5.37:g.140590211T>C	ENSP00000239450:p.Trp578Arg	0	0		75	8	NM_018932	0	0	0	11	11	B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.481113	0.01027	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.19105	2.17;2.17	3.4	-6.79	0.01715	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.01765	0.0056	N	0.00004	-3.385	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39881	-0.9592	9	0.02654	T	1	.	10.455	0.44546	0.178:0.6193:0.0:0.2027	.	578	Q9Y5F1	PCDBC_HUMAN	R	241;578;198	ENSP00000440199:W241R;ENSP00000239450:W578R	ENSP00000239450:W578R	W	+	1	0	PCDHB12	140570395	0.000000	0.05858	0.111000	0.21465	0.960000	0.62799	-1.804000	0.01738	-2.628000	0.00436	-1.589000	0.00846	TGG	.		0.701	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932	
TCERG1	10915	hgsc.bcm.edu	37	5	145838632	145838632	+	Silent	SNP	G	G	A			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr5:145838632G>A	ENST00000296702.5	+	4	662	c.624G>A	c.(622-624)caG>caA	p.Q208Q	TCERG1_ENST00000394421.2_Silent_p.Q208Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	208	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			cccaggctcaggctcaggccc	0.721																																					p.Q208Q		.											.	TCERG1-92	0			c.G624A						.																																			SO:0001819	synonymous_variant	10915	exon4			GGCTCAGGCTCAG	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.624G>A	5.37:g.145838632G>A		3	1		90	7	NM_006706	0	0	0	0	0	Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	CCDS4282.1																																																																																			.		0.721	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
TCERG1	10915	hgsc.bcm.edu	37	5	145838656	145838656	+	Silent	SNP	G	G	A	rs569890952		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr5:145838656G>A	ENST00000296702.5	+	4	686	c.648G>A	c.(646-648)caG>caA	p.Q216Q	TCERG1_ENST00000394421.2_Silent_p.Q216Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	216	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			cccaggcccaggcccaggccc	0.731																																					p.Q216Q		.											.	TCERG1-92	0			c.G648A						.						10.0	14.0	13.0					5																	145838656		2190	4261	6451	SO:0001819	synonymous_variant	10915	exon4			GGCCCAGGCCCAG	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.648G>A	5.37:g.145838656G>A		4	0		85	17	NM_006706	0	0	0	0	0	Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	CCDS4282.1																																																																																			.		0.731	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
TCERG1	10915	hgsc.bcm.edu	37	5	145838662	145838662	+	Silent	SNP	G	G	A			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr5:145838662G>A	ENST00000296702.5	+	4	692	c.654G>A	c.(652-654)caG>caA	p.Q218Q	TCERG1_ENST00000394421.2_Silent_p.Q218Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	218	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			cccaggcccaggcccaggccc	0.731																																					p.Q218Q		.											.	TCERG1-92	0			c.G654A						.						11.0	15.0	14.0					5																	145838662		2192	4280	6472	SO:0001819	synonymous_variant	10915	exon4			GGCCCAGGCCCAG	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.654G>A	5.37:g.145838662G>A		5	0		90	13	NM_006706	0	0	0	0	0	Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	CCDS4282.1																																																																																			.		0.731	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
LSM11	134353	hgsc.bcm.edu	37	5	157170986	157170986	+	Silent	SNP	G	G	A	rs2279771	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr5:157170986G>A	ENST00000286307.5	+	1	284	c.228G>A	c.(226-228)cgG>cgA	p.R76R		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	76					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ggcgcgggcgggctcggggcg	0.781													G|||	917	0.183107	0.1089	0.0821	5008	,	,		4925	0.245		0.175	False		,,,				2504	0.2996				p.R76R		.											.	LSM11-90	0			c.G228A						.						2.0	2.0	2.0					5																	157170986		1159	2602	3761	SO:0001819	synonymous_variant	134353	exon1			CGGGCGGGCTCGG	AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"""LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"""			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.228G>A	5.37:g.157170986G>A		0	0		6	6	NM_173491	0	0	0	0	0	A0AVQ1|Q7Z7P0|Q8N975	Silent	SNP	ENST00000286307.5	37	CCDS4342.1																																																																																			T|0.167;C|0.832		0.781	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252580.2	NM_173491	
GABRG2	2566	hgsc.bcm.edu	37	5	161529571	161529571	+	Intron	SNP	A	A	G	rs211035	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr5:161529571A>G	ENST00000361925.4	+	5	851				GABRG2_ENST00000393933.4_Intron|GABRG2_ENST00000356592.3_Intron|GABRG2_ENST00000414552.2_Missense_Mutation_p.I215V			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2						adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	gtctcgttctattgcccaggc	0.473													G|||	4113	0.821286	0.8608	0.8646	5008	,	,		16083	0.7202		0.8042	False		,,,				2504	0.8589				p.I215V		.											.	GABRG2-95	0			c.A643G						.																																			SO:0001627	intron_variant	2566	exon6			CGTTCTATTGCCC		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.631+1248A>G	5.37:g.161529571A>G		0	0		4	4	NM_198903	0	0	0	0	0	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	1762	0.8067765567765568	426	0.8658536585365854	303	0.8370165745856354	420	0.7342657342657343	613	0.8087071240105541	G	0.003	-2.502500	0.00157	.	.	ENSG00000113327	ENST00000414552	T	0.13307	2.6	0.225	0.225	0.15325	.	.	.	.	.	T	0.00012	0.0000	N	0.01640	-0.785	0.80722	P	0.0	B	0.13145	0.007	B	0.01281	0.0	T	0.28138	-1.0053	7	0.02654	T	1	.	.	.	.	rs211035;rs388537;rs58765528	215	F5HB82	.	V	215	ENSP00000410732:I215V	ENSP00000410732:I215V	I	+	1	0	GABRG2	161462149	.	.	0.003000	0.11579	0.003000	0.03518	.	.	-0.690000	0.05142	-0.684000	0.03749	ATT	A|0.193;G|0.807		0.473	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
ARL10	285598	hgsc.bcm.edu	37	5	175792605	175792605	+	Silent	SNP	G	G	C	rs2303667	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr5:175792605G>C	ENST00000310389.5	+	1	135	c.39G>C	c.(37-39)ctG>ctC	p.L13L	MIR1271_ENST00000408537.1_RNA	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	13					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		TGCTGGCGCTGGGCGGCGCCG	0.756													G|||	2787	0.55651	0.5938	0.4928	5008	,	,		9772	0.5556		0.6093	False		,,,				2504	0.498				p.L13L		.											.	ARL10-91	0			c.G39C						.	G		1858,1528		603,652,438	3.0	4.0	3.0		39	3.2	0.8	5	dbSNP_100	3	4085,2705		1416,1253,726	no	coding-synonymous	ARL10	NM_173664.4		2019,1905,1164	CC,CG,GG		39.838,45.127,41.5979		13/245	175792605	5943,4233	1693	3395	5088	SO:0001819	synonymous_variant	285598	exon1			GGCGCTGGGCGGC	BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22042	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10A"""	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.39G>C	5.37:g.175792605G>C		0	0		5	5	NM_173664	0	0	0	0	0		Silent	SNP	ENST00000310389.5	37	CCDS4400.1																																																																																			G|0.585;C|0.415		0.756	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253145.2	NM_173664	
FLT4	2324	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	180036020	180036020	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr5:180036020A>G	ENST00000261937.6	-	29	3919	c.3841T>C	c.(3841-3843)Tcg>Ccg	p.S1281P	FLT4_ENST00000502649.1_Missense_Mutation_p.S1281P|FLT4_ENST00000393347.3_Missense_Mutation_p.S1281P	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1281					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AACTCCTCCGAGGCCAGCACC	0.607																																					p.S1281P	Colon(97;1075 1466 27033 27547 35871)	.											.	FLT4-1490	0			c.T3841C						.						217.0	166.0	184.0					5																	180036020		2203	4300	6503	SO:0001583	missense	2324	exon29			CCTCCGAGGCCAG	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3841T>C	5.37:g.180036020A>G	ENSP00000261937:p.Ser1281Pro	113	1		203	80	NM_182925	0	0	2	2	0	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.356381	0.82243	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.80738	-1.32;-1.41;-1.41	4.49	4.49	0.54785	.	.	.	.	.	D	0.88629	0.6488	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;0.985	D;P	0.83275	0.996;0.728	D	0.89561	0.3806	9	0.56958	D	0.05	.	14.2714	0.66154	1.0:0.0:0.0:0.0	.	1281;1281	E9PD35;P35916	.;VGFR3_HUMAN	P	1281	ENSP00000261937:S1281P;ENSP00000377016:S1281P;ENSP00000426057:S1281P	ENSP00000261937:S1281P	S	-	1	0	FLT4	179968626	1.000000	0.71417	0.990000	0.47175	0.976000	0.68499	8.753000	0.91637	2.019000	0.59389	0.459000	0.35465	TCG	.		0.607	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4		
PPP1R3G	648791	hgsc.bcm.edu	37	6	5086070	5086070	+	Silent	SNP	A	A	G	rs667752		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr6:5086070A>G	ENST00000405617.2	+	1	351	c.351A>G	c.(349-351)gcA>gcG	p.A117A		NM_001145115.1	NP_001138587.1	B7ZBB8	PP13G_HUMAN	protein phosphatase 1, regulatory subunit 3G	117					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						CGGAGGACGCACAGCTCGGCC	0.692													G|||	5008	1.0	1.0	1.0	5008	,	,		12505	1.0		1.0	False		,,,				2504	1.0				p.A117A		.											.	PPP1R3G-136	0			c.A351G						.						1.0	2.0	2.0					6																	5086070		400	1062	1462	SO:0001819	synonymous_variant	648791	exon1			GGACGCACAGCTC		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.351A>G	6.37:g.5086070A>G		0	0		2	2	NM_001145115	0	0	0	0	0		Silent	SNP	ENST00000405617.2	37	CCDS47366.1																																																																																			A|0.006;G|0.994		0.692	PPP1R3G-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039740.3	NM_001145115	
BTN1A1	696	bcgsc.ca	37	6	26501897	26501897	+	Silent	SNP	T	T	C	rs1321479	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr6:26501897T>C	ENST00000244513.6	+	2	225	c.159T>C	c.(157-159)tcT>tcC	p.S53S		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	53	Ig-like V-type 1.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GTCGCCTGTCTCCGAACGCGA	0.657													C|||	2834	0.565895	0.5136	0.5879	5008	,	,		14855	0.7312		0.4423	False		,,,				2504	0.5777				p.S53S		.											.	BTN1A1-92	0			c.T159C						.	C		2285,2117		600,1085,516	34.0	36.0	35.0		159	1.6	0.0	6	dbSNP_88	35	4004,4584		990,2024,1280	no	coding-synonymous	BTN1A1	NM_001732.2		1590,3109,1796	CC,CT,TT		46.6232,48.0918,48.4142		53/527	26501897	6289,6701	2201	4294	6495	SO:0001819	synonymous_variant	696	exon2			CCTGTCTCCGAAC	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.159T>C	6.37:g.26501897T>C		58	0		169	7	NM_001732	0	0	0	0	0	Q4VAN3|Q4VAN4|Q9H458	Silent	SNP	ENST00000244513.6	37	CCDS4614.1																																																																																			T|0.485;C|0.515		0.657	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732	
HLA-DQB1	3119	hgsc.bcm.edu	37	6	32629194	32629194	+	Silent	SNP	G	G	A	rs9273650	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr6:32629194G>A	ENST00000399084.1	-	5	880	c.702C>T	c.(700-702)ggC>ggT	p.G234G	HLA-DQB1_ENST00000460185.1_5'Flank|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000434651.2_Silent_p.G234G|HLA-DQB1_ENST00000399079.3_Intron|HLA-DQB1-AS1_ENST00000419852.1_RNA|HLA-DQB1_ENST00000374943.4_Silent_p.G234G|HLA-DQB1_ENST00000399082.3_Intron			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	234					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""""""Insulin(DB00071)"""	AGCCTCCAACGCCACTCAGCA	0.557									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				.|||	588	0.117412	0.1142	0.1513	5008	,	,		11693	0.1091		0.0875	False		,,,				2504	0.137				p.G234G	Esophageal Squamous(151;720 1825 15000 40336 43415)	.											.	HLA-DQB1-22	0			c.C702T						.						36.0	32.0	33.0					6																	32629194		1981	3934	5915	SO:0001819	synonymous_variant	3119	exon4	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial	TCCAACGCCACTC		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399084.1:c.702C>T	6.37:g.32629194G>A		8	1		6	2	NM_002123	0	0	0	0	0	A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Silent	SNP	ENST00000399084.1	37	CCDS43451.1																																																																																			A|0.225;G|0.775		0.557	HLA-DQB1-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276127.1	NM_002123	
KCNK17	89822	hgsc.bcm.edu	37	6	39282036	39282036	+	Missense_Mutation	SNP	T	T	C	rs10947804	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr6:39282036T>C	ENST00000373231.4	-	1	293	c.61A>G	c.(61-63)Agc>Ggc	p.S21G	KCNK17_ENST00000453413.2_Missense_Mutation_p.S21G	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	21			S -> G (in dbSNP:rs10947804). {ECO:0000269|PubMed:11248242, ECO:0000269|PubMed:15489334}.		potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						AGCACGGTGCTGGGCACCGCG	0.761													T|||	2917	0.582468	0.8858	0.4553	5008	,	,		12417	0.4673		0.4851	False		,,,				2504	0.4816				p.S21G		.											.	KCNK17-227	0			c.A61G						.	T	GLY/SER,GLY/SER	3100,536		1364,372,82	3.0	4.0	3.0		61,61	2.1	0.0	6	dbSNP_120	3	4061,3263		1251,1559,852	yes	missense,missense	KCNK17	NM_001135111.1,NM_031460.3	56,56	2615,1931,934	CC,CT,TT		44.5522,14.7415,34.6624	benign,benign	21/272,21/333	39282036	7161,3799	1818	3662	5480	SO:0001583	missense	89822	exon1			CGGTGCTGGGCAC	AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.61A>G	6.37:g.39282036T>C	ENSP00000362328:p.Ser21Gly	0	0		7	7	NM_001135111	0	0	0	0	0	E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	CCDS4842.1	1214	0.5558608058608059	431	0.8760162601626016	173	0.47790055248618785	244	0.42657342657342656	366	0.48284960422163586	T	8.033	0.762256	0.15914	0.852585	0.554478	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.56776	0.44;0.44	4.06	2.09	0.27110	.	1.425750	0.04586	N	0.395947	T	0.14184	0.0343	N	0.17082	0.46	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.09122	-1.0689	9	0.21014	T	0.42	.	5.3388	0.15973	0.0:0.5516:0.0:0.4484	rs10947804;rs17845776;rs17858736;rs60349641	21;21	E9PB46;Q96T54	.;KCNKH_HUMAN	G	21	ENSP00000362328:S21G;ENSP00000401271:S21G	ENSP00000362328:S21G	S	-	1	0	KCNK17	39390014	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	-0.229000	0.09098	0.383000	0.24910	0.459000	0.35465	AGC	T|0.441;C|0.559		0.761	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460	
AARS2	57505	bcgsc.ca	37	6	44270870	44270870	+	Missense_Mutation	SNP	C	C	T	rs35623954	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr6:44270870C>T	ENST00000244571.4	-	16	2190	c.2188G>A	c.(2188-2190)Gtg>Atg	p.V730M	RP11-444E17.6_ENST00000505802.1_Intron|AARS2_ENST00000491573.1_5'Flank|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCATGGGCCACGGGCACCCCC	0.612													C|||	65	0.0129792	0.0	0.0101	5008	,	,		17970	0.001		0.0507	False		,,,				2504	0.0061				p.V730M		.											.	AARS2-91	0			c.G2188A						.	C	MET/VAL	42,4364	45.3+/-79.5	0,42,2161	57.0	60.0	59.0		2188	5.3	1.0	6	dbSNP_126	59	360,8240	120.6+/-179.8	9,342,3949	yes	missense	AARS2	NM_020745.2	21	9,384,6110	TT,TC,CC		4.186,0.9532,3.0909	probably-damaging	730/986	44270870	402,12604	2203	4300	6503	SO:0001583	missense	57505	exon16			GGGCCACGGGCAC	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2188G>A	6.37:g.44270870C>T	ENSP00000244571:p.Val730Met	130	0		145	7	NM_020745	0	0	0	0	0		Missense_Mutation	SNP	ENST00000244571.4	37	CCDS34464.1	40	0.018315018315018316	0	0.0	5	0.013812154696132596	1	0.0017482517482517483	34	0.044854881266490766	C	17.17	3.320587	0.60634	0.009532	0.04186	ENSG00000124608	ENST00000244571	T	0.67171	-0.25	5.26	5.26	0.73747	Threonyl/alanyl tRNA synthetase, SAD (2);Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.060246	0.64402	D	0.000003	T	0.79569	0.4468	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82210	-0.0570	10	0.87932	D	0	-23.4327	12.3948	0.55378	0.0:0.9239:0.0:0.0761	rs35623954	730	Q5JTZ9	SYAM_HUMAN	M	730	ENSP00000244571:V730M	ENSP00000244571:V730M	V	-	1	0	AARS2	44378848	1.000000	0.71417	0.954000	0.39281	0.175000	0.22909	4.489000	0.60309	2.733000	0.93635	0.655000	0.94253	GTG	C|0.975;T|0.025		0.612	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745	
POU3F2	5454	hgsc.bcm.edu	37	6	99283376	99283376	+	Silent	SNP	T	T	G	rs195860	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr6:99283376T>G	ENST00000328345.5	+	1	797	c.627T>G	c.(625-627)ggT>ggG	p.G209G		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	209					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		AGCCGGCCGGTCTGCACCACC	0.736													G|||	4460	0.890575	0.8994	0.9121	5008	,	,		6412	0.9544		0.8598	False		,,,				2504	0.8292				p.G209G		.											.	POU3F2-90	0			c.T627G						.	G		3186,306		1453,280,13	4.0	4.0	4.0		627	3.1	1.0	6	dbSNP_79	4	6282,930		2738,806,62	no	coding-synonymous	POU3F2	NM_005604.2		4191,1086,75	GG,GT,TT		12.8952,8.7629,11.5471		209/444	99283376	9468,1236	1746	3606	5352	SO:0001819	synonymous_variant	5454	exon1			GGCCGGTCTGCAC	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.627T>G	6.37:g.99283376T>G		0	0		3	3	NM_005604	0	0	0	0	0	Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	CCDS5040.1																																																																																			T|0.089;G|0.911		0.736	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2		
PRR18	285800	hgsc.bcm.edu	37	6	166720806	166720806	+	Silent	SNP	G	G	C	rs911203	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr6:166720806G>C	ENST00000322583.3	-	1	1065	c.825C>G	c.(823-825)tcC>tcG	p.S275S		NM_175922.3	NP_787118.2	Q8N4B5	PRR18_HUMAN	proline rich 18	275										haematopoietic_and_lymphoid_tissue(2)|lung(1)	3		Breast(66;2.35e-05)|Ovarian(120;0.0606)|Prostate(117;0.0959)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-19)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;7.96e-05)		cggcagccgcggACTCCACGC	0.741													C|||	3992	0.797125	0.8525	0.6196	5008	,	,		7867	0.9206		0.7465	False		,,,				2504	0.773				p.S275S		.											.	PRR18-514	0			c.C825G						.	C		3541,683		1503,535,74	7.0	7.0	7.0		825	2.4	1.0	6	dbSNP_86	7	6180,2074		2355,1470,302	no	coding-synonymous	PRR18	NM_175922.3		3858,2005,376	CC,CG,GG		25.1272,16.1695,22.0949		275/296	166720806	9721,2757	2112	4127	6239	SO:0001819	synonymous_variant	285800	exon1			AGCCGCGGACTCC	BC034775	CCDS5291.1	6q27	2009-01-27	2009-01-27						28574	protein-coding gene	gene with protein product			"""proline rich region 18"""			12477932	Standard	NM_175922		Approved	MGC35308	uc003quw.1	Q8N4B5		ENST00000322583.3:c.825C>G	6.37:g.166720806G>C		0	0		4	4	NM_175922	0	0	0	0	0		Silent	SNP	ENST00000322583.3	37	CCDS5291.1																																																																																			G|0.796;C|0.204		0.741	PRR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392563.3	NM_175922	
SMOC2	64094	hgsc.bcm.edu	37	6	168842113	168842113	+	Silent	SNP	T	T	G	rs73270928	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr6:168842113T>G	ENST00000356284.2	+	1	283	c.63T>G	c.(61-63)gcT>gcG	p.A21A	SMOC2_ENST00000354536.5_Silent_p.A21A	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	21					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CGGTGCCCGCTCAGAAGTTCT	0.751													G|||	1980	0.395367	0.5787	0.2839	5008	,	,		9314	0.4593		0.167	False		,,,				2504	0.3957				p.A21A		.											.	SMOC2-91	0			c.T63G						.	G	,	924,2074		89,746,664	2.0	3.0	3.0		63,63	-0.4	1.0	6	dbSNP_131	3	645,5799		34,577,2611	no	coding-synonymous,coding-synonymous	SMOC2	NM_001166412.1,NM_022138.2	,	123,1323,3275	GG,GT,TT		10.0093,30.8205,16.6172	,	21/447,21/458	168842113	1569,7873	1499	3222	4721	SO:0001819	synonymous_variant	64094	exon1			GCCCGCTCAGAAG	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.63T>G	6.37:g.168842113T>G		2	0		8	8	NM_022138	0	0	0	0	0	B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Silent	SNP	ENST00000356284.2	37	CCDS55076.1																																																																																			T|0.654;G|0.346		0.751	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1		
CYP2W1	54905	hgsc.bcm.edu	37	7	1028376	1028376	+	Missense_Mutation	SNP	C	C	T	rs149976257	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr7:1028376C>T	ENST00000308919.7	+	9	1404	c.1391C>T	c.(1390-1392)cCg>cTg	p.P464L	CYP2W1_ENST00000340150.6_3'UTR	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	464					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGCGTCAGTCCGGCCTCCCTG	0.721													C|||	7	0.00139776	0.0015	0.0014	5008	,	,		9726	0.0		0.003	False		,,,				2504	0.001				p.P464L		.											.	CYP2W1-90	0			c.C1391T						.	C	LEU/PRO	9,4355		0,9,2173	14.0	19.0	17.0		1391	2.5	0.0	7	dbSNP_134	17	49,8523		0,49,4237	no	missense	CYP2W1	NM_017781.2	98	0,58,6410	TT,TC,CC		0.5716,0.2062,0.4484	benign	464/491	1028376	58,12878	2182	4286	6468	SO:0001583	missense	54905	exon9			TCAGTCCGGCCTC	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.1391C>T	7.37:g.1028376C>T	ENSP00000310149:p.Pro464Leu	2	0		51	25	NM_017781	0	0	0	2	2		Missense_Mutation	SNP	ENST00000308919.7	37	CCDS5319.2	7|7	0.003205128205128205|0.003205128205128205	3|3	0.006097560975609756|0.006097560975609756	0|0	0.0|0.0	0|0	0.0|0.0	4|4	0.005277044854881266|0.005277044854881266	C|C	8.140|8.140	0.785111|0.785111	0.16189|0.16189	0.002062|0.002062	0.005716|0.005716	ENSG00000073067|ENSG00000073067	ENST00000308919|ENST00000415893	T|T	0.69435|0.73897	-0.4|-0.79	4.65|4.65	2.47|2.47	0.30058|0.30058	.|.	0.573455|.	0.19292|.	N|.	0.117877|.	T|T	0.55097|0.55097	0.1899|0.1899	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	0.999999|0.999999	P|.	0.42161|.	0.772|.	B|.	0.30495|.	0.116|.	T|T	0.54912|0.54912	-0.8222|-0.8222	10|7	0.54805|0.72032	T|D	0.06|0.01	.|.	6.931|6.931	0.24442|0.24442	0.21:0.6899:0.0:0.1001|0.21:0.6899:0.0:0.1001	.|.	464|.	Q8TAV3|.	CP2W1_HUMAN|.	L|W	464|276	ENSP00000310149:P464L|ENSP00000392581:R276W	ENSP00000310149:P464L|ENSP00000392581:R276W	P|R	+|+	2|1	0|2	CYP2W1|CYP2W1	994902|994902	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	0.017000|0.017000	0.13399|0.13399	1.067000|1.067000	0.40740|0.40740	0.555000|0.555000	0.69702|0.69702	CCG|CGG	C|0.996;T|0.004		0.721	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781	
AMZ1	155185	hgsc.bcm.edu	37	7	2742411	2742411	+	Silent	SNP	A	A	G	rs61738701	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr7:2742411A>G	ENST00000312371.4	+	3	728	c.360A>G	c.(358-360)acA>acG	p.T120T	AMZ1_ENST00000489665.1_3'UTR|AMZ1_ENST00000407112.1_Silent_p.T120T	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	120							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GCAGCTGCACAGAGGCCTTCT	0.711													G|||	201	0.0401358	0.1452	0.0115	5008	,	,		16243	0.0		0.001	False		,,,				2504	0.0				p.T120T		.											.	AMZ1-90	0			c.A360G						.	G		539,3751		32,475,1638	23.0	22.0	22.0		360	-10.4	0.0	7	dbSNP_129	22	7,8361		0,7,4177	no	coding-synonymous	AMZ1	NM_133463.1		32,482,5815	GG,GA,AA		0.0837,12.5641,4.3135		120/499	2742411	546,12112	2145	4184	6329	SO:0001819	synonymous_variant	155185	exon3			CTGCACAGAGGCC	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.360A>G	7.37:g.2742411A>G		8	0		88	41	NM_133463	0	0	0	0	0	B3KRS0|Q8TF51	Silent	SNP	ENST00000312371.4	37	CCDS34589.1																																																																																			A|0.922;G|0.078		0.711	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463	
TNRC18	84629	hgsc.bcm.edu	37	7	5352665	5352665	+	Silent	SNP	T	T	G			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr7:5352665T>G	ENST00000430969.1	-	27	8205	c.7857A>C	c.(7855-7857)tcA>tcC	p.S2619S	TNRC18_ENST00000399537.4_Silent_p.S2619S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2619	Ser-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		aggaggaggatgaggaggagg	0.657																																					p.S2619S		.											.	TNRC18-46	0			c.A7857C						.						5.0	8.0	7.0					7																	5352665		1381	3160	4541	SO:0001819	synonymous_variant	84629	exon27			GGAGGATGAGGAG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7857A>C	7.37:g.5352665T>G		5	2		10	6	NM_001080495	2	0	0	7	5	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1																																																																																			.		0.657	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
TNRC18	84629	hgsc.bcm.edu	37	7	5352791	5352796	+	In_Frame_Del	DEL	GCTGCT	GCTGCT	-	rs191028877|rs374450776	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	GCTGCT	GCTGCT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr7:5352791_5352796delGCTGCT	ENST00000430969.1	-	27	8074_8079	c.7726_7731delAGCAGC	c.(7726-7731)agcagcdel	p.SS2576del	TNRC18_ENST00000399537.4_In_Frame_Del_p.SS2576del	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2576	Ser-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCTCCGAgccgctgctgctgctgctg	0.689																																					p.2576_2577del		.											.	TNRC18-46	0			c.7726_7731del						.																																			SO:0001651	inframe_deletion	84629	exon27			CGAGCCGCTGCTG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7726_7731delAGCAGC	7.37:g.5352797_5352802delGCTGCT	ENSP00000395538:p.Ser2576_Ser2577del	12	0		61	21	NM_001080495	0	0	0	0	0	A8MX41|Q96JH1|Q96K91	In_Frame_Del	DEL	ENST00000430969.1	37	CCDS47534.1																																																																																			.		0.689	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
USP42	84132	hgsc.bcm.edu	37	7	6193464	6193464	+	Missense_Mutation	SNP	T	T	G	rs61732616	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	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	1		29	29	NM_032172	0	0	0	0	0	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	
NPVF	64111	hgsc.bcm.edu	37	7	25266573	25266573	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr7:25266573T>C	ENST00000222674.2	-	2	257	c.211A>G	c.(211-213)Att>Gtt	p.I71V		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	71					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CTCATCTTAATAACATTTTTT	0.393																																					p.I71V		.											.	NPVF-91	0			c.A211G						.						129.0	135.0	133.0					7																	25266573		2203	4300	6503	SO:0001583	missense	64111	exon2			TCTTAATAACATT	AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.211A>G	7.37:g.25266573T>C	ENSP00000222674:p.Ile71Val	139	0		187	6	NM_022150	0	0	0	0	0	A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP	ENST00000222674.2	37	CCDS5395.1	.	.	.	.	.	.	.	.	.	.	T	9.063	0.994869	0.19043	.	.	ENSG00000105954	ENST00000222674	T	0.26810	1.71	5.55	1.46	0.22682	.	1.297180	0.04883	N	0.448070	T	0.26484	0.0647	L	0.60455	1.87	0.09310	N	1	B	0.33171	0.4	B	0.30855	0.121	T	0.28522	-1.0041	10	0.30854	T	0.27	-13.3194	8.7071	0.34360	0.1175:0.0:0.3648:0.5178	.	71	Q9HCQ7	RFRP_HUMAN	V	71	ENSP00000222674:I71V	ENSP00000222674:I71V	I	-	1	0	NPVF	25233098	0.211000	0.23529	0.003000	0.11579	0.940000	0.58332	0.330000	0.19715	0.433000	0.26313	0.533000	0.62120	ATT	.		0.393	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250315.1	NM_022150	
GARS	2617	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	30643172	30643172	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr7:30643172A>G	ENST00000389266.3	+	6	960	c.719A>G	c.(718-720)gAa>gGa	p.E240G		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	240					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)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCAGAAATGGAAAGTGTTTTG	0.378																																					p.E240G		.											.	GARS-91	0			c.A719G						.						104.0	96.0	98.0					7																	30643172		1877	4110	5987	SO:0001583	missense	2617	exon6			AAATGGAAAGTGT	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.719A>G	7.37:g.30643172A>G	ENSP00000373918:p.Glu240Gly	56	0		95	41	NM_002047	0	0	9	17	8	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120248	0.77323	.	.	ENSG00000106105	ENST00000389266	T	0.79554	-1.28	5.74	5.74	0.90152	Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.046443	0.85682	D	0.000000	D	0.82783	0.5112	M	0.67517	2.055	0.80722	D	1	B	0.33212	0.402	B	0.41466	0.358	D	0.83412	0.0028	10	0.62326	D	0.03	-29.2829	14.2967	0.66318	1.0:0.0:0.0:0.0	.	240	P41250	SYG_HUMAN	G	240	ENSP00000373918:E240G	ENSP00000373918:E240G	E	+	2	0	GARS	30609697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.121000	0.94375	2.323000	0.78572	0.528000	0.53228	GAA	.		0.378	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047	
EPDR1	54749	hgsc.bcm.edu	37	7	37960577	37960577	+	Silent	SNP	C	C	A	rs147877097	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr7:37960577C>A	ENST00000199448.4	+	1	415	c.36C>A	c.(34-36)ggC>ggA	p.G12G	EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_Silent_p.G12G|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000559325.1_Silent_p.G132G	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	12					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCGTCCCGGGCGCCCTGGGTG	0.786													C|||	20	0.00399361	0.0008	0.0159	5008	,	,		11784	0.0		0.007	False		,,,				2504	0.001				p.G12G		.											.	EPDR1-91	0			c.C36A						.	C		8,3816		0,8,1904	4.0	5.0	5.0		396	-1.9	0.0	7	dbSNP_134	5	83,7553		1,81,3736	no	coding-synonymous	EPDR1	NM_017549.4		1,89,5640	AA,AC,CC		1.087,0.2092,0.7941		132/345	37960577	91,11369	1912	3818	5730	SO:0001819	synonymous_variant	54749	exon1			CCCGGGCGCCCTG	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.36C>A	7.37:g.37960577C>A		1	0		5	5	NM_001242946	0	0	1	3	2	A8K4C0|C9JYS3|Q06BL0|Q99M77	Silent	SNP	ENST00000199448.4	37	CCDS5454.2																																																																																			C|0.995;A|0.005		0.786	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549	
NACAD	23148	hgsc.bcm.edu	37	7	45123906	45123906	+	Missense_Mutation	SNP	T	T	G	rs61740887	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr7:45123906T>G	ENST00000490531.2	-	2	1892	c.1873A>C	c.(1873-1875)Att>Ctt	p.I625L		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	625					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						TGGGACACAATCGTGGCTGCA	0.587																																					p.I625L		.											.	.	0			c.A1873C						.						4.0	5.0	5.0					7																	45123906		605	1372	1977	SO:0001583	missense	23148	exon2			ACACAATCGTGGC	AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.1873A>C	7.37:g.45123906T>G	ENSP00000420477:p.Ile625Leu	8	2		14	4	NM_001146334	0	0	0	0	0		Missense_Mutation	SNP	ENST00000490531.2	37	CCDS47582.1	.	.	.	.	.	.	.	.	.	.	g	0.005	-2.144464	0.00332	.	.	ENSG00000136274	ENST00000490531	T	0.10192	2.9	1.47	-2.95	0.05564	.	0.765734	0.10074	N	0.719328	T	0.02807	0.0084	N	0.02247	-0.625	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.30416	-0.9979	9	0.02654	T	1	.	4.7983	0.13282	0.0:0.3603:0.2834:0.3564	.	625	O15069	NACAD_HUMAN	L	625	ENSP00000420477:I625L	ENSP00000420477:I625L	I	-	1	0	NACAD	45090431	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.112000	0.03299	-3.309000	0.00190	-3.787000	0.00020	ATT	T|0.778;G|0.222		0.587	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353652.2	NM_001146334	
RAMP3	10268	hgsc.bcm.edu	37	7	45197433	45197433	+	Silent	SNP	G	G	A	rs67477213	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr7:45197433G>A	ENST00000242249.4	+	1	44	c.6G>A	c.(4-6)gaG>gaA	p.E2E	RAMP3_ENST00000496212.1_Silent_p.E2E|RAMP3_ENST00000481345.1_Silent_p.E2E	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	2					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	CAGCCATGGAGACTGGAGCGC	0.771													G|||	1244	0.248403	0.4947	0.1657	5008	,	,		7876	0.0159		0.2276	False		,,,				2504	0.2352				p.E2E		.											.	RAMP3-90	0			c.G6A						.	G		1194,2386		196,802,792	3.0	3.0	3.0		6	2.0	0.0	7	dbSNP_130	3	1312,6004		141,1030,2487	no	coding-synonymous	RAMP3	NM_005856.2		337,1832,3279	AA,AG,GG		17.9333,33.352,22.9993		2/149	45197433	2506,8390	1790	3658	5448	SO:0001819	synonymous_variant	10268	exon1			CATGGAGACTGGA	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"""Receptor (G protein-coupled) activity modifying proteins"""	9845	protein-coding gene	gene with protein product		605155	"""receptor activity modifying protein 3"", ""receptor (calcitonin) activity modifying protein 3"""				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.6G>A	7.37:g.45197433G>A		0	0		6	4	NM_005856	0	0	0	0	0	Q7Z2Y1	Silent	SNP	ENST00000242249.4	37	CCDS5503.1																																																																																			G|0.760;A|0.240		0.771	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856	
GATS	352954	bcgsc.ca	37	7	99821685	99821685	+	Silent	SNP	C	C	T	rs863450	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr7:99821685C>T	ENST00000436886.2	-	3	479	c.231G>A	c.(229-231)tcG>tcA	p.S77S	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand	77										endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAGGTGCTCCGAGGAGGGCA	0.637													C|||	3293	0.657548	0.8495	0.4986	5008	,	,		17732	0.38		0.7326	False		,,,				2504	0.7198				p.S77S		.											.	GATS-90	0			c.G231A						.	C		3372,728		1387,598,65	44.0	48.0	47.0		231	-0.5	1.0	7	dbSNP_86	47	6209,2165		2317,1575,295	no	coding-synonymous	GATS	NM_178831.6		3704,2173,360	TT,TC,CC		25.8538,17.7561,23.1922		77/164	99821685	9581,2893	2050	4187	6237	SO:0001819	synonymous_variant	352954	exon3			GTGCTCCGAGGAG	AK095056	CCDS43621.1	7q22.1	2014-08-13	2009-04-08	2009-04-08	ENSG00000160844	ENSG00000239521			29954	protein-coding gene	gene with protein product	"""stromal antigen 3 opposite strand"""					12477932	Standard	NM_178831		Approved	DKFZp686B07267, STAG3OS	uc003uua.4	Q8NAP1	OTTHUMG00000155289	ENST00000436886.2:c.231G>A	7.37:g.99821685C>T		307	4		528	13	NM_178831	0	0	4	4	0	D6W5V0|Q68D93|Q6P198|Q6PII7|Q7Z720|Q86UK9	Silent	SNP	ENST00000436886.2	37	CCDS43621.1																																																																																			C|0.319;T|0.681		0.637	GATS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178831	
AKR1D1	6718	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	137761321	137761321	+	Silent	SNP	C	C	A			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr7:137761321C>A	ENST00000242375.3	+	1	99	c.57C>A	c.(55-57)ccC>ccA	p.P19P	AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000432161.1_Silent_p.P19P|AKR1D1_ENST00000411726.2_Silent_p.P19P	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	19					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	ACAGCATTCCCATCATCGGAC	0.423																																					p.P19P		.											.	AKR1D1-91	0			c.C57A						.						241.0	189.0	207.0					7																	137761321		2203	4300	6503	SO:0001819	synonymous_variant	6718	exon1			CATTCCCATCATC	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.57C>A	7.37:g.137761321C>A		146	0		241	16	NM_001190907	0	0	0	0	0	A1L4P6|A8K060|B4DPN3|B4DPN8	Silent	SNP	ENST00000242375.3	37	CCDS5846.1																																																																																			.		0.423	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989	
ZNF467	168544	hgsc.bcm.edu	37	7	149462381	149462381	+	Missense_Mutation	SNP	C	C	T	rs112589121	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr7:149462381C>T	ENST00000302017.3	-	5	1623	c.1210G>A	c.(1210-1212)Gcc>Acc	p.A404T	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	404					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)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCGCGCTGGCCAGGGGCTTG	0.756													C|||	288	0.057508	0.0681	0.0533	5008	,	,		10199	0.0526		0.0557	False		,,,				2504	0.0532				p.A404T		.											.	ZNF467-90	0			c.G1210A						.	C	THR/ALA	176,3068		2,172,1448	2.0	3.0	3.0		1210	2.4	0.1	7	dbSNP_132	3	327,6463		9,309,3077	no	missense	ZNF467	NM_207336.1	58	11,481,4525	TT,TC,CC		4.8159,5.4254,5.013	possibly-damaging	404/596	149462381	503,9531	1622	3395	5017	SO:0001583	missense	168544	exon5			CGCTGGCCAGGGG	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1210G>A	7.37:g.149462381C>T	ENSP00000304769:p.Ala404Thr	1	0		13	7	NM_207336	0	0	0	1	1		Missense_Mutation	SNP	ENST00000302017.3	37	CCDS5899.1	125	0.05723443223443223	26	0.052845528455284556	24	0.06629834254143646	30	0.05244755244755245	45	0.059366754617414245	C	4.434	0.080391	0.08533	0.054254	0.048159	ENSG00000181444	ENST00000302017	T	0.07688	3.17	3.31	2.38	0.29361	.	0.922964	0.08782	U	0.894441	T	0.00524	0.0017	N	0.25332	0.735	0.31226	N	0.696884	B	0.20052	0.041	B	0.18871	0.023	T	0.24977	-1.0145	10	0.45353	T	0.12	.	8.7078	0.34365	0.2283:0.7717:0.0:0.0	.	404	Q7Z7K2	ZN467_HUMAN	T	404	ENSP00000304769:A404T	ENSP00000304769:A404T	A	-	1	0	ZNF467	149093314	0.000000	0.05858	0.112000	0.21494	0.069000	0.16628	-0.368000	0.07543	0.542000	0.28846	0.462000	0.41574	GCC	C|0.942;T|0.058		0.756	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336	
ATP6V0E2	155066	hgsc.bcm.edu	37	7	149571095	149571095	+	5'UTR	SNP	G	G	A	rs79377053	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr7:149571095G>A	ENST00000464662.1	+	0	14				ATP6V0E2_ENST00000421974.2_Missense_Mutation_p.A30T|ATP6V0E2_ENST00000456496.2_Missense_Mutation_p.A30T|ATP6V0E2-AS1_ENST00000461019.1_RNA|ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2-AS1_ENST00000488315.1_RNA|ATP6V0E2_ENST00000479613.1_5'UTR|ATP6V0E2_ENST00000606024.1_5'UTR|ATP6V0E2_ENST00000425642.2_5'Flank			Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2						ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|hydrogen ion transmembrane transporter activity (GO:0015078)			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			CTGGGGACCCGCGCACCTGCA	0.716													G|||	682	0.136182	0.3994	0.049	5008	,	,		12396	0.0526		0.0368	False		,,,				2504	0.0307				p.A30T		.											.	.	0			c.G88A						.	G	THR/ALA,THR/ALA	991,2511		116,759,876	4.0	6.0	5.0		88,88	1.7	0.0	7	dbSNP_132	5	266,6746		7,252,3247	no	missense,missense	ATP6V0E2	NM_001100592.1,NM_145230.2	58,58	123,1011,4123	AA,AG,GG		3.7935,28.2981,11.9555	probably-damaging,probably-damaging	30/214,30/131	149571095	1257,9257	1751	3506	5257	SO:0001623	5_prime_UTR_variant	155066	exon1			GGACCCGCGCACC	AK057700	CCDS47742.1, CCDS55181.1	7q36.1	2010-04-21	2006-10-12	2006-10-12	ENSG00000171130	ENSG00000171130		"""ATPases / V-type"""	21723	protein-coding gene	gene with protein product		611019	"""chromosome 7 open reading frame 32"", ""ATPase, H+ transporting V0 subunit E isoform 2-like (rat)"""	C7orf32, ATP6V0E2L			Standard	XM_005249958		Approved		uc003wgs.3	Q8NHE4	OTTHUMG00000158094	ENST00000464662.1:c.-60G>A	7.37:g.149571095G>A		0	0		21	12	NM_001100592	0	0	1	5	4	A2T863|A2T8L7|B5MDP5|J3KQW7|Q6MZW1|Q75L47|Q7Z4R7|Q8N7I8	Missense_Mutation	SNP	ENST00000464662.1	37		283	0.1295787545787546	188	0.3821138211382114	21	0.058011049723756904	42	0.07342657342657342	32	0.04221635883905013	G	14.56	2.570645	0.45798	0.282981	0.037935	ENSG00000171130	ENST00000421974;ENST00000456496	.	.	.	2.57	1.67	0.24075	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.43550	P	0.004141999999999979	P	0.40638	0.725	B	0.27608	0.081	T	0.43988	-0.9357	7	0.87932	D	0	.	7.3999	0.26958	0.0:0.2709:0.7291:0.0	.	30	E9PAS2	.	T	30	.	ENSP00000411672:A30T	A	+	1	0	ATP6V0E2	149202028	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.103000	0.15292	0.651000	0.30788	0.563000	0.77884	GCG	G|0.870;A|0.130		0.716	ATP6V0E2-007	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350177.2	NM_145230	
GBX1	2636	hgsc.bcm.edu	37	7	150864240	150864240	+	Silent	SNP	G	G	C	rs13241978	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr7:150864240G>C	ENST00000297537.4	-	1	395	c.396C>G	c.(394-396)gcC>gcG	p.A132A	GBX1_ENST00000475831.1_5'UTR	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	132	Ala-rich.|Pro-rich.				adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTTTCGggcggcagtggcgg	0.751													G|||	1447	0.288938	0.3971	0.3069	5008	,	,		9229	0.3433		0.2217	False		,,,				2504	0.1431				p.A132A		.											.	GBX1-68	0			c.C396G						.	G		1127,2329		197,733,798	7.0	10.0	9.0		396	0.2	0.0	7	dbSNP_121	9	1736,6108		240,1256,2426	no	coding-synonymous	GBX1	NM_001098834.1		437,1989,3224	CC,CG,GG		22.1316,32.61,25.3363		132/364	150864240	2863,8437	1728	3922	5650	SO:0001819	synonymous_variant	2636	exon1			TCGGGCGGCAGTG	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"""Homeoboxes / ANTP class : HOXL subclass"""	4185	protein-coding gene	gene with protein product		603354	"""gastrulation brain homeo box 1"""			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.396C>G	7.37:g.150864240G>C		1	0		13	6	NM_001098834	0	0	0	0	0		Silent	SNP	ENST00000297537.4	37	CCDS43682.1																																																																																			G|0.699;C|0.301		0.751	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1		
DPP6	1804	hgsc.bcm.edu	37	7	153750019	153750019	+	Silent	SNP	C	C	T	rs554552970	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr7:153750019C>T	ENST00000377770.3	+	1	255	c.114C>T	c.(112-114)ggC>ggT	p.G38G	DPP6_ENST00000406326.1_Silent_p.G38G|AC006019.3_ENST00000425591.1_RNA|DPP6_ENST00000404039.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	38					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGGACGGCGGCGCAGGAGCCA	0.791													C|||	413	0.0824681	0.0356	0.0994	5008	,	,		4709	0.002		0.1372	False		,,,				2504	0.1605				p.G38G	NSCLC(125;1384 1783 2490 7422 34254)	.											.	DPP6-652	0			c.C114T						.						5.0	7.0	6.0					7																	153750019		678	1541	2219	SO:0001819	synonymous_variant	1804	exon1			CGGCGGCGCAGGA	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.114C>T	7.37:g.153750019C>T		1	1		9	5	NM_130797	0	0	0	0	0		Silent	SNP	ENST00000377770.3	37																																																																																				.		0.791	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797	
USP17L2	377630	hgsc.bcm.edu	37	8	11996252	11996252	+	Silent	SNP	G	G	A	rs71237667	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr8:11996252G>A	ENST00000333796.3	-	1	334	c.18C>T	c.(16-18)ctC>ctT	p.L6L	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	6					apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CTCCCAAGTAGAGTGAGTCGT	0.507													-|||	116	0.0231629	0.0023	0.0375	5008	,	,		17555	0.0		0.0815	False		,,,				2504	0.0051				p.L6L		.											.	USP17L2-435	0			c.C18T						.	G		26,1734		2,22,856	13.0	15.0	14.0		18	0.4	0.0	8	dbSNP_130	14	316,3656		38,240,1708	no	coding-synonymous	USP17L2	NM_201402.2		40,262,2564	AA,AG,GG		7.9557,1.4773,5.9665		6/531	11996252	342,5390	880	1986	2866	SO:0001819	synonymous_variant	377630	exon1			CAAGTAGAGTGAG	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.18C>T	8.37:g.11996252G>A		4	1		3	3	NM_201402	0	0	0	0	0		Silent	SNP	ENST00000333796.3	37	CCDS43713.1																																																																																			G|0.957;A|0.043		0.507	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402	
FAM86B1	85002	hgsc.bcm.edu	37	8	12043032	12043032	+	Missense_Mutation	SNP	C	C	A	rs199637314	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr8:12043032C>A	ENST00000448228.2	-	6	692	c.643G>T	c.(643-645)Gtg>Ttg	p.V215L	FAM86B1_ENST00000534520.1_Missense_Mutation_p.R126L|FAM86B1_ENST00000533852.2_Missense_Mutation_p.V249L|FAM86B1_ENST00000321602.8_Missense_Mutation_p.V21L	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	215										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		CAATACAGCACGTCTACGGTG	0.592																																					p.V215L		.											.	.	0			c.G643T						.						2.0	3.0	3.0					8																	12043032		967	1964	2931	SO:0001583	missense	85002	exon6			ACAGCACGTCTAC	BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.643G>T	8.37:g.12043032C>A	ENSP00000407067:p.Val215Leu	9	0		13	2	NM_001083537	0	0	1	1	0		Missense_Mutation	SNP	ENST00000448228.2	37	CCDS59512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	10.81|10.81	1.454856|1.454856	0.26161|0.26161	.|.	.|.	ENSG00000186523|ENSG00000186523	ENST00000340537;ENST00000534520|ENST00000431227;ENST00000448228;ENST00000321602;ENST00000526708	T;T|T;T	0.19532|0.37584	2.14;2.14|3.25;1.19	1.17|1.17	0.252|0.252	0.15545|0.15545	.|.	.|.	.|.	.|.	.|.	T|T	0.40498|0.40498	0.1119|0.1119	M|M	0.72576|0.72576	2.205|2.205	0.23391|0.23391	N|N	0.997779|0.997779	.|B;B;P;P	.|0.38223	.|0.4;0.194;0.613;0.623	.|P;B;B;B	.|0.45276	.|0.475;0.221;0.353;0.202	T|T	0.39313|0.39313	-0.9620|-0.9620	6|9	.|0.87932	.|D	.|0	.|.	4.5375|4.5375	0.12040|0.12040	0.3789:0.6211:0.0:0.0|0.3789:0.6211:0.0:0.0	.|.	.|215;249;21;58	.|Q8N7N1;E9PN63;F6QN85;Q4KMP3	.|F86B1_HUMAN;.;.;.	L|L	126|249;215;21;249	ENSP00000342610:R126L;ENSP00000431362:R126L|ENSP00000407067:V215L;ENSP00000439686:V21L	.|ENSP00000439686:V21L	R|V	-|-	2|1	0|0	FAM86B1|FAM86B1	12080441|12080441	1.000000|1.000000	0.71417|0.71417	0.238000|0.238000	0.24106|0.24106	0.020000|0.020000	0.10135|0.10135	3.457000|3.457000	0.53007|0.53007	0.077000|0.077000	0.16863|0.16863	-1.203000|-1.203000	0.01651|0.01651	CGT|GTG	.		0.592	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383317.1	NM_032916	
PROSC	11212	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	37632983	37632983	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr8:37632983C>A	ENST00000328195.3	+	6	648	c.581C>A	c.(580-582)cCa>cAa	p.P194Q		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	194					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	AGTCAAGGACCAAATCCAGAC	0.537																																					p.P194Q		.											.	PROSC-90	0			c.C581A						.						153.0	154.0	154.0					8																	37632983		2203	4300	6503	SO:0001583	missense	11212	exon6			AAGGACCAAATCC	AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"""proline synthetase co-transcribed (bacterial homolog)"""				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.581C>A	8.37:g.37632983C>A	ENSP00000333551:p.Pro194Gln	123	0		109	92	NM_007198	0	0	0	1	1	Q6FI94	Missense_Mutation	SNP	ENST00000328195.3	37	CCDS6096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.208420|5.208420	0.95069|0.95069	.|.	.|.	ENSG00000147471|ENSG00000147471	ENST00000328195;ENST00000523521|ENST00000521494	T|.	0.39787|.	1.06|.	5.95|5.95	5.95|5.95	0.96441|0.96441	Alanine racemase, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71467|0.71467	0.3343|0.3343	L|L	0.51853|0.51853	1.615|1.615	0.80722|0.80722	D|D	1|1	B|.	0.32893|.	0.389|.	B|.	0.42959|.	0.403|.	T|T	0.65721|0.65721	-0.6099|-0.6099	10|5	0.87932|.	D|.	0|.	.|.	19.9726|19.9726	0.97289|0.97289	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	194|.	O94903|.	PROSC_HUMAN|.	Q|K	194;123|163	ENSP00000333551:P194Q|.	ENSP00000333551:P194Q|.	P|Q	+|+	2|1	0|0	PROSC|PROSC	37752141|37752141	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.828000|5.828000	0.69307|0.69307	2.819000|2.819000	0.97034|0.97034	0.655000|0.655000	0.94253|0.94253	CCA|CAA	.		0.537	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376796.1	NM_007198	
EYA1	2138	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	72123405	72123405	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr8:72123405G>C	ENST00000340726.3	-	17	2323	c.1684C>G	c.(1684-1686)Caa>Gaa	p.Q562E	EYA1_ENST00000388741.2_Missense_Mutation_p.Q528E|EYA1_ENST00000419131.1_Missense_Mutation_p.Q527E|EYA1_ENST00000388740.3_Missense_Mutation_p.Q529E|EYA1_ENST00000388742.4_Missense_Mutation_p.Q562E|EYA1_ENST00000388743.2_Missense_Mutation_p.Q561E|EYA1_ENST00000303824.7_Missense_Mutation_p.Q556E	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	562					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTTGCTCCTTGTTCTTCTTCT	0.358																																					p.Q562E		.											.	EYA1-652	0			c.C1684G						.						272.0	216.0	235.0					8																	72123405		2203	4300	6503	SO:0001583	missense	2138	exon17			CTCCTTGTTCTTC	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1684C>G	8.37:g.72123405G>C	ENSP00000342626:p.Gln562Glu	166	0		113	88	NM_000503	0	0	0	0	0	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998717	0.35226	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.4	5.4	0.78164	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.88912	0.6566	L	0.33485	1.01	0.80722	D	1	D;B;B;P;P	0.54772	0.968;0.342;0.342;0.941;0.486	P;B;B;P;B	0.59643	0.483;0.127;0.127;0.861;0.268	D	0.83866	0.0271	10	0.02654	T	1	-9.8331	19.1797	0.93617	0.0:0.0:1.0:0.0	.	556;489;529;562;527	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	E	562;562;530;529;556;528;561;527	ENSP00000373394:Q562E;ENSP00000342626:Q562E;ENSP00000373392:Q529E;ENSP00000303221:Q556E;ENSP00000373393:Q528E;ENSP00000373395:Q561E;ENSP00000410176:Q527E	ENSP00000303221:Q556E	Q	-	1	0	EYA1	72285959	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.807000	0.99171	2.532000	0.85374	0.561000	0.74099	CAA	.		0.358	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060	
MTDH	92140	hgsc.bcm.edu	37	8	98712028	98712028	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr8:98712028G>T	ENST00000336273.3	+	7	1423	c.1095G>T	c.(1093-1095)caG>caT	p.Q365H	MTDH_ENST00000519934.1_Intron	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	365					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CTGATTATCAGTGGGATGTTA	0.328																																					p.Q365H		.											.	MTDH-91	0			c.G1095T						.						143.0	137.0	139.0					8																	98712028		2203	4300	6503	SO:0001583	missense	92140	exon7			TTATCAGTGGGAT	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1095G>T	8.37:g.98712028G>T	ENSP00000338235:p.Gln365His	81	0		68	4	NM_178812	0	0	2	2	0	Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780053	0.70222	.	.	ENSG00000147649	ENST00000336273;ENST00000521933	T	0.50001	0.76	5.19	5.19	0.71726	.	0.645248	0.16322	N	0.219517	T	0.61085	0.2319	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.60037	-0.7341	10	0.59425	D	0.04	-7.9369	12.7011	0.57034	0.0792:0.0:0.9208:0.0	.	365	Q86UE4	LYRIC_HUMAN	H	365;35	ENSP00000338235:Q365H	ENSP00000338235:Q365H	Q	+	3	2	MTDH	98781204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.740000	0.55082	2.581000	0.87130	0.561000	0.74099	CAG	.		0.328	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2		
POU5F1B	5462	broad.mit.edu;bcgsc.ca	37	8	128428751	128428751	+	Missense_Mutation	SNP	A	A	G	rs13274084	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr8:128428751A>G	ENST00000465342.2	+	2	1797	c.640A>G	c.(640-642)Aat>Gat	p.N214D	CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.N214D|CASC8_ENST00000501396.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	214			N -> D (in dbSNP:rs13274084). {ECO:0000269|PubMed:21341266, ECO:0000269|Ref.3}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						AGCTGACAACAATGAAAATCT	0.507													a|||	330	0.0658946	0.0091	0.0793	5008	,	,		20047	0.0575		0.1382	False		,,,				2504	0.0675				p.N214D		.											.	.	0			c.A640G	GRCh37	CM073273	POU5F1B	M	rs13274084	.						17.0	19.0	18.0					8																	128428751		692	1591	2283	SO:0001583	missense	5462	exon1			GACAACAATGAAA	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"""Homeoboxes / POU class"""	9223	protein-coding gene	gene with protein product		615739	"""POU domain class 5, transcription factor 1 pseudogene 1"", ""POU class 5 homeobox 1 pseudogene 1"""	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.640A>G	8.37:g.128428751A>G	ENSP00000419298:p.Asn214Asp	94	1		79	7	NM_001159542	0	0	1	1	0	D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Missense_Mutation	SNP	ENST00000465342.2	37	CCDS55274.1	179	0.08195970695970696	7	0.014227642276422764	35	0.09668508287292818	33	0.057692307692307696	104	0.13720316622691292	A	8.566	0.878897	0.17395	.	.	ENSG00000212993	ENST00000465342;ENST00000391675	T;T	0.79141	-1.24;-1.24	1.14	-2.28	0.06826	Homeodomain-related (1);	0.000000	0.56097	D	0.000033	T	0.01092	0.0036	M	0.75615	2.305	0.41841	P	0.009875999999999996	B	0.09022	0.002	B	0.13407	0.009	T	0.25572	-1.0128	9	0.66056	D	0.02	.	3.5631	0.07889	0.331:0.4766:0.1924:0.0	rs13274084	214	Q06416	P5F1B_HUMAN	D	214	ENSP00000419298:N214D;ENSP00000375557:N214D	ENSP00000375557:N214D	N	+	1	0	POU5F1B	128497933	0.015000	0.18098	0.008000	0.14137	0.200000	0.23975	0.874000	0.28065	-0.663000	0.05331	0.113000	0.15668	AAT	A|0.856;G|0.144		0.507	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542	
ZNF696	79943	hgsc.bcm.edu	37	8	144378868	144378868	+	Silent	SNP	A	A	G	rs7386259	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5.0	5.0	5.0		1023	-0.3	0.0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"""Zinc fingers, C2H2-type"""	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		0	0		3	3	NM_030895	0	0	0	0	0	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895	
MROH6	642475	hgsc.bcm.edu	37	8	144649625	144649625	+	Silent	SNP	T	T	C	rs10097556	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr8:144649625T>C	ENST00000398882.3	-	14	2200	c.1944A>G	c.(1942-1944)cgA>cgG	p.R648R	MROH6_ENST00000533679.1_5'UTR|MROH6_ENST00000532704.1_Intron|MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000524906.1_5'UTR	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	648																	CGCTCTGCAGTCGCCCTAGGT	0.771													C|||	4736	0.945687	0.8041	0.9841	5008	,	,		9094	1.0		0.998	False		,,,				2504	1.0				p.R648R		.											.	.	0			c.A1944G						.						2.0	3.0	2.0					8																	144649625		1227	2564	3791	SO:0001819	synonymous_variant	642475	exon14			CTGCAGTCGCCCT	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1944A>G	8.37:g.144649625T>C		0	0		4	4	NM_001100878	0	0	0	0	0	A8MWB1	Silent	SNP	ENST00000398882.3	37	CCDS47928.1																																																																																			T|0.058;C|0.942		0.771	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878	
EPPK1	83481	hgsc.bcm.edu	37	8	144940378	144940378	+	Silent	SNP	G	G	A			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr8:144940378G>A	ENST00000525985.1	-	2	7115	c.7044C>T	c.(7042-7044)gtC>gtT	p.V2348V				P58107	EPIPL_HUMAN	epiplakin 1	2348						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGGGTCGATGACGCCGCCCG	0.701																																					p.V2348V		.											.	EPPK1-25	0			c.C7044T						.						194.0	188.0	190.0					8																	144940378		2168	4240	6408	SO:0001819	synonymous_variant	83481	exon1			GTCGATGACGCCG	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7044C>T	8.37:g.144940378G>A		14	0		143	27	NM_031308	0	0	0	1	1	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																				G|0.016;A|0.984		0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
PLEC	5339	hgsc.bcm.edu	37	8	144990528	144990528	+	Silent	SNP	A	A	G	rs7014582	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr8:144990528A>G	ENST00000322810.4	-	32	14041	c.13872T>C	c.(13870-13872)gcT>gcC	p.A4624A	PLEC_ENST00000398774.2_Silent_p.A4455A|PLEC_ENST00000436759.2_Silent_p.A4514A|PLEC_ENST00000356346.3_Silent_p.A4473A|PLEC_ENST00000354958.2_Silent_p.A4465A|PLEC_ENST00000357649.2_Silent_p.A4491A|PLEC_ENST00000354589.3_Silent_p.A4487A|PLEC_ENST00000527096.1_Silent_p.A4510A|PLEC_ENST00000345136.3_Silent_p.A4487A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4624	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCGGGAGCCAGCGGTAGAGC	0.716													G|||	2389	0.477037	0.8979	0.3746	5008	,	,		8857	0.1508		0.4404	False		,,,				2504	0.3548				p.A4624A		.											.	PLEC-141	0			c.T13872C						.	G	,,,,,,,	2833,621		1197,439,91	12.0	16.0	15.0		13542,13419,13395,13872,13365,13461,13473,13461	-8.1	0.0	8	dbSNP_116	15	3324,4610		785,1754,1428	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	1982,2193,1519	GG,GA,AA		41.8956,17.9792,45.9343	,,,,,,,	4514/4575,4473/4534,4465/4526,4624/4685,4455/4516,4487/4548,4491/4552,4487/4548	144990528	6157,5231	1727	3967	5694	SO:0001819	synonymous_variant	5339	exon32			GGAGCCAGCGGTA	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13872T>C	8.37:g.144990528A>G		0	0		7	7	NM_201380	0	0	0	1	1	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.536;G|0.464		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
PLEC	5339	hgsc.bcm.edu	37	8	144998190	144998190	+	Silent	SNP	A	A	G	rs2857829	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr8:144998190A>G	ENST00000322810.4	-	31	6487	c.6318T>C	c.(6316-6318)gcT>gcC	p.A2106A	PLEC_ENST00000398774.2_Silent_p.A1937A|PLEC_ENST00000436759.2_Silent_p.A1996A|PLEC_ENST00000356346.3_Silent_p.A1955A|PLEC_ENST00000354958.2_Silent_p.A1947A|PLEC_ENST00000357649.2_Silent_p.A1973A|PLEC_ENST00000354589.3_Silent_p.A1969A|PLEC_ENST00000527096.1_Silent_p.A1992A|PLEC_ENST00000345136.3_Silent_p.A1969A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2106	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGCCTCGCAGCCTCCAGCT	0.746													a|||	1156	0.230831	0.028	0.2968	5008	,	,		12955	0.1429		0.4274	False		,,,				2504	0.3466				p.A2106A		.											.	PLEC-141	0			c.T6318C						.	G	,,,,,,,	343,3813		21,301,1756	7.0	8.0	8.0		5988,5865,5841,6318,5811,5907,5919,5907	-8.1	0.0	8	dbSNP_100	8	3082,5166		620,1842,1662	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	641,2143,3418	GG,GA,AA		37.3666,8.2531,27.6121	,,,,,,,	1996/4575,1955/4534,1947/4526,2106/4685,1937/4516,1969/4548,1973/4552,1969/4548	144998190	3425,8979	2078	4124	6202	SO:0001819	synonymous_variant	5339	exon31			CCTCGCAGCCTCC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6318T>C	8.37:g.144998190A>G		1	1		6	5	NM_201380	0	0	0	2	2	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.738;G|0.262		0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
PLEC	5339	hgsc.bcm.edu	37	8	144999417	144999417	+	Silent	SNP	C	C	T	rs55836855	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr8:144999417C>T	ENST00000322810.4	-	31	5260	c.5091G>A	c.(5089-5091)gcG>gcA	p.A1697A	PLEC_ENST00000398774.2_Silent_p.A1528A|PLEC_ENST00000436759.2_Silent_p.A1587A|PLEC_ENST00000356346.3_Silent_p.A1546A|PLEC_ENST00000354958.2_Silent_p.A1538A|PLEC_ENST00000357649.2_Silent_p.A1564A|PLEC_ENST00000354589.3_Silent_p.A1560A|PLEC_ENST00000527096.1_Silent_p.A1583A|PLEC_ENST00000345136.3_Silent_p.A1560A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1697	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTACCTGCCGCGCTCGCTCCA	0.741													C|||	1156	0.230831	0.028	0.2954	5008	,	,		8861	0.1429		0.4274	False		,,,				2504	0.3476				p.A1697A		.											.	PLEC-141	0			c.G5091A						.	C	,,,,,,,	258,3112		16,226,1443	6.0	7.0	7.0		4761,4638,4614,5091,4584,4680,4692,4680	-9.4	0.1	8	dbSNP_129	7	2520,4470		444,1632,1419	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	460,1858,2862	TT,TC,CC		36.0515,7.6558,26.8147	,,,,,,,	1587/4575,1546/4534,1538/4526,1697/4685,1528/4516,1560/4548,1564/4552,1560/4548	144999417	2778,7582	1685	3495	5180	SO:0001819	synonymous_variant	5339	exon31			CTGCCGCGCTCGC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.5091G>A	8.37:g.144999417C>T		0	0		4	4	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.731;T|0.269		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
PLEC	5339	hgsc.bcm.edu	37	8	145001588	145001588	+	Missense_Mutation	SNP	C	C	T	rs11136334	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr8:145001588C>T	ENST00000322810.4	-	27	4326	c.4157G>A	c.(4156-4158)cGg>cAg	p.R1386Q	PLEC_ENST00000398774.2_Missense_Mutation_p.R1217Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1276Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1235Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R1227Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1253Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R1249Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1272Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1249Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1386	Globular 1.		R -> Q (in dbSNP:rs11136334).		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGCTCCTGCCGCAGCTGCTC	0.736													C|||	1156	0.230831	0.028	0.2954	5008	,	,		13418	0.1429		0.4274	False		,,,				2504	0.3476				p.R1386Q		.											.	PLEC-141	0			c.G4157A						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	388,3674		38,312,1681	12.0	16.0	15.0		3746,3758,3746,3650,4157,3680,3704,3827	-0.7	1.0	8	dbSNP_120	15	3413,4885		747,1919,1483	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_201384.1,NM_201383.1,NM_201382.2,NM_201381.1,NM_201380.2,NM_201379.1,NM_201378.2,NM_000445.3	43,43,43,43,43,43,43,43	785,2231,3164	TT,TC,CC		41.1304,9.5519,30.7524	benign,benign,benign,benign,benign,benign,benign,benign	1249/4548,1253/4552,1249/4548,1217/4516,1386/4685,1227/4526,1235/4534,1276/4575	145001588	3801,8559	2031	4149	6180	SO:0001583	missense	5339	exon27			TCCTGCCGCAGCT	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4157G>A	8.37:g.145001588C>T	ENSP00000323856:p.Arg1386Gln	0	0		2	2	NM_201380	0	0	0	1	1	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	536	0.2454212454212454	15	0.03048780487804878	108	0.2983425414364641	94	0.16433566433566432	319	0.420844327176781	C	12.61	1.989397	0.35131	0.095519	0.411304	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.1	-0.662	0.11413	.	1.260670	0.05768	N	0.606168	T	0.00012	0.0000	N	0.02011	-0.69	0.41093	P	0.014382000000000006	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.44605	-0.9317	9	0.19590	T	0.45	.	4.6892	0.12772	0.2556:0.2308:0.0:0.5136	rs11136334	1276;1235;1227;1386;1217;1249;1253;1249	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	1249;1253;1249;1217;1386;1227;1235;1276;1272	ENSP00000344848:R1249Q;ENSP00000350277:R1253Q;ENSP00000346602:R1249Q;ENSP00000381756:R1217Q;ENSP00000323856:R1386Q;ENSP00000347044:R1227Q;ENSP00000348702:R1235Q;ENSP00000388180:R1276Q;ENSP00000434583:R1272Q	ENSP00000323856:R1386Q	R	-	2	0	PLEC	145073576	0.001000	0.12720	0.979000	0.43373	0.833000	0.47200	0.002000	0.13061	-0.040000	0.13580	-0.369000	0.07265	CGG	C|0.707;T|0.293		0.736	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
ZNF517	340385	hgsc.bcm.edu	37	8	146033347	146033347	+	Missense_Mutation	SNP	T	T	C	rs2976653	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr8:146033347T>C	ENST00000531720.1	+	4	1091	c.1046T>C	c.(1045-1047)gTg>gCg	p.V349A	ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.V349A|ZNF517_ENST00000525105.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	349				V -> A (in Ref. 1; BAD18586). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GACGGCGGCGTGGGGCAGGGC	0.746													C|||	4981	0.994609	1.0	1.0	5008	,	,		12856	1.0		0.994	False		,,,				2504	0.9785				p.V349A		.											.	ZNF517-90	0			c.T1046C						.	C	ALA/VAL	3411,3		1704,3,0	3.0	5.0	4.0		1046	-0.8	0.0	8	dbSNP_101	4	7050,46		3502,46,0	no	missense	ZNF517	NM_213605.2	64	5206,49,0	CC,CT,TT		0.6483,0.0879,0.4662	benign	349/493	146033347	10461,49	1707	3548	5255	SO:0001583	missense	340385	exon5			GCGGCGTGGGGCA	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"""Zinc fingers, C2H2-type"", ""-"""	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1046T>C	8.37:g.146033347T>C	ENSP00000436103:p.Val349Ala	0	0		6	6	NM_213605	0	0	0	0	0		Missense_Mutation	SNP	ENST00000531720.1	37	CCDS6434.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	362|362	1.0|1.0	572|572	1.0|1.0	753|753	0.9934036939313984|0.9934036939313984	C|C	0.021|0.021	-1.418607|-1.418607	0.01136|0.01136	0.999121|0.999121	0.993517|0.993517	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.05319|.	3.46;3.46|.	2.17|2.17	-0.838|-0.838	0.10762|0.10762	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21449|0.21449	-1.0245|-1.0245	8|4	0.59425|.	D|.	0.04|.	.|.	0.241|0.241	0.00192|0.00192	0.362:0.2246:0.2135:0.1999|0.362:0.2246:0.2135:0.1999	rs2976653;rs59817342|rs2976653;rs59817342	349|.	Q6ZMY9|.	ZN517_HUMAN|.	A|R	349|316	ENSP00000353058:V349A;ENSP00000436103:V349A|.	ENSP00000353058:V349A|.	V|W	+|+	2|1	0|0	ZNF517|ZNF517	146004151|146004151	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	-0.400000|-0.400000	0.07241|0.07241	-0.612000|-0.612000	0.05701|0.05701	-1.157000|-1.157000	0.01802|0.01802	GTG|TGG	G|0.992;C|0.006		0.746	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261	
DMRT1	1761	hgsc.bcm.edu	37	9	841971	841971	+	Missense_Mutation	SNP	T	T	A	rs3739583	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr9:841971T>A	ENST00000382276.3	+	1	282	c.133T>A	c.(133-135)Tcg>Acg	p.S45T	DMRT1_ENST00000569227.1_5'Flank	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	45			S -> T (in dbSNP:rs3739583). {ECO:0000269|PubMed:10332030, ECO:0000269|PubMed:10857744, ECO:0000269|PubMed:16617334}.		cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GGCCAGCGGCTCGAGCGCCGG	0.756													T|||	1125	0.224641	0.0923	0.2017	5008	,	,		10887	0.4722		0.1223	False		,,,				2504	0.2699				p.S45T		.											.	DMRT1-515	0			c.T133A						.	T	THR/SER	381,3479		16,349,1565	4.0	5.0	5.0		133	-1.9	0.0	9	dbSNP_107	5	945,6747		48,849,2949	no	missense	DMRT1	NM_021951.2	58	64,1198,4514	AA,AT,TT		12.2855,9.8705,11.4785	benign	45/374	841971	1326,10226	1930	3846	5776	SO:0001583	missense	1761	exon1			AGCGGCTCGAGCG	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.133T>A	9.37:g.841971T>A	ENSP00000371711:p.Ser45Thr	0	0		5	5	NM_021951	0	0	0	0	0	B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	ENST00000382276.3	37	CCDS6442.1	482	0.2206959706959707	65	0.13211382113821138	69	0.19060773480662985	259	0.4527972027972028	89	0.11741424802110818	t	3.227	-0.158317	0.06544	0.098705	0.122855	ENSG00000137090	ENST00000451501;ENST00000382276	T	0.18338	2.22	3.29	-1.87	0.07737	.	4.016930	0.01046	N	0.004398	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	B	0.16166	0.016	B	0.12156	0.007	T	0.46816	-0.9164	9	0.11485	T	0.65	.	2.6176	0.04907	0.219:0.1045:0.4923:0.1842	rs3739583;rs3739583	45	Q9Y5R6	DMRT1_HUMAN	T	45	ENSP00000371711:S45T	ENSP00000371711:S45T	S	+	1	0	DMRT1	831971	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.700000	0.05081	-0.232000	0.09811	0.454000	0.30748	TCG	T|0.317;A|0.683		0.756	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951	
ERMP1	79956	hgsc.bcm.edu	37	9	5832728	5832728	+	Silent	SNP	G	G	C	rs1131727	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr9:5832728G>C	ENST00000339450.5	-	1	389	c.300C>G	c.(298-300)gcC>gcG	p.A100A	ERMP1_ENST00000381506.3_5'Flank|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	100						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GGTGTCCAGCGGCCCCGCGTA	0.741													G|||	2021	0.403554	0.1309	0.428	5008	,	,		3601	0.7093		0.34	False		,,,				2504	0.5051				p.A100A		.											.	ERMP1-69	0			c.C300G						.						4.0	3.0	3.0					9																	5832728		1620	3326	4946	SO:0001819	synonymous_variant	79956	exon1			TCCAGCGGCCCCG	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.300C>G	9.37:g.5832728G>C		2	0		11	11	NM_024896	0	0	0	0	0	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	CCDS34983.1																																																																																			G|0.572;C|0.428		0.741	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896	
TOPORS	10210	bcgsc.ca	37	9	32542204	32542204	+	Silent	SNP	A	A	G	rs10971019	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr9:32542204A>G	ENST00000360538.2	-	3	2435	c.2319T>C	c.(2317-2319)tcT>tcC	p.S773S	TOPORS_ENST00000379858.1_Silent_p.S708S	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	773	Arg-rich.|Interaction with TOP1.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATCTGTTACTAGACAGGCTCC	0.423													A|||	897	0.179113	0.0681	0.2003	5008	,	,		20185	0.1071		0.2078	False		,,,				2504	0.3589				p.S773S		.											.	TOPORS-230	0			c.T2319C						.	A	,	425,3981	205.8+/-227.6	25,375,1803	109.0	109.0	109.0		2124,2319	-2.4	1.0	9	dbSNP_120	109	1908,6692	338.9+/-322.9	222,1464,2614	no	coding-synonymous,coding-synonymous	TOPORS	NM_001195622.1,NM_005802.4	,	247,1839,4417	GG,GA,AA		22.186,9.6459,17.9379	,	708/981,773/1046	32542204	2333,10673	2203	4300	6503	SO:0001819	synonymous_variant	10210	exon3			GTTACTAGACAGG	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2319T>C	9.37:g.32542204A>G		127	0		102	5	NM_005802	0	0	5	6	1	O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	CCDS6527.1																																																																																			A|0.836;G|0.164		0.423	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802	
CHMP5	51510	hgsc.bcm.edu	37	9	33264540	33264540	+	5'Flank	SNP	C	C	G	rs1071545	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr9:33264540C>G	ENST00000223500.8	+	0	0				BAG1_ENST00000472232.3_Missense_Mutation_p.G45R|CHMP5_ENST00000419016.2_5'Flank|BAG1_ENST00000379704.2_5'UTR	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5						endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			GGTGGACGCCCAGAGGGAGGC	0.771													G|||	4905	0.979433	0.9251	0.9942	5008	,	,		8749	1.0		1.0	False		,,,				2504	1.0				p.G45R		.											.	BAG1-228	0			c.G133C						.		,ARG/GLY	3714,198		1759,196,1	4.0	5.0	4.0		,133	3.6	0.0	9	dbSNP_86	4	7514,4		3755,4,0	no	utr-5,missense	BAG1	NM_001172415.1,NM_004323.5	,125	5514,200,1	GG,GC,CC		0.0532,5.0613,1.7673	,benign	,45/346	33264540	11228,202	1956	3759	5715	SO:0001631	upstream_gene_variant	573	exon1			GACGCCCAGAGGG	AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"""Charged multivesicular body proteins"""	26942	protein-coding gene	gene with protein product		610900	"""chromosome 9 open reading frame 83"", ""chromatin modifying protein 5"""	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765		9.37:g.33264540C>G	Exception_encountered	0	0		7	7	NM_004323	0	0	0	5	5	B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Missense_Mutation	SNP	ENST00000223500.8	37	CCDS6537.1	2143	0.9812271062271062	452	0.9186991869918699	361	0.9972375690607734	572	1.0	758	1.0	G	5.424	0.263435	0.10294	0.949387	0.999468	ENSG00000107262	ENST00000472232	.	.	.	3.62	3.62	0.41486	.	0.965269	0.08484	N	0.939035	T	0.00012	0.0000	N	0.08118	0	0.47407	P	5.870000000000042E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.39761	-0.9598	8	0.06236	T	0.91	-3.4106	9.2895	0.37778	0.0:0.2201:0.7798:0.0	rs1071545;rs1702659;rs59772010	45	Q99933	BAG1_HUMAN	R	45	.	ENSP00000420514:G45R	G	-	1	0	BAG1	33254540	0.798000	0.28890	0.040000	0.18447	0.006000	0.05464	0.985000	0.29578	1.113000	0.41760	-0.674000	0.03794	GGG	C|0.976;G|0.024		0.771	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052040.3	NM_016410	
PRSS3	5646	bcgsc.ca	37	9	33797991	33797991	+	Missense_Mutation	SNP	G	G	A	rs146966861	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr9:33797991G>A	ENST00000361005.5	+	3	536	c.536G>A	c.(535-537)cGc>cAc	p.R179H	PRSS3_ENST00000429677.3_Missense_Mutation_p.R115H|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Missense_Mutation_p.R136H|PRSS3_ENST00000379405.3_Missense_Mutation_p.R122H	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	179	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R179H(1)|p.R122H(1)		large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			ATCAATGCCCGCGTGTCCACC	0.572																																					p.R179H		.											.	PRSS3-90	2	Substitution - Missense(2)	prostate(2)	c.G536A						.						220.0	166.0	185.0					9																	33797991		2203	4300	6503	SO:0001583	missense	5646	exon3			ATGCCCGCGTGTC		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.536G>A	9.37:g.33797991G>A	ENSP00000354280:p.Arg179His	338	9		272	21	NM_007343	0	0	0	0	0	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	G	7.750	0.703204	0.15172	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	T;T;D;T;D	0.92699	0.32;0.24;-3.09;0.32;-3.09	3.62	-0.17	0.13335	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.319904	0.34507	N	0.003909	T	0.79353	0.4431	N	0.17379	0.485	0.09310	N	1	B;B;B	0.12013	0.001;0.005;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.62987	-0.6737	10	0.16420	T	0.52	.	4.4554	0.11640	0.4098:0.1669:0.4233:0.0	.	122;179;136	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	H	179;134;136;115;122	ENSP00000354280:R179H;ENSP00000401249:R134H;ENSP00000340889:R136H;ENSP00000401828:R115H;ENSP00000368715:R122H	ENSP00000340889:R136H	R	+	2	0	PRSS3	33787991	0.000000	0.05858	0.003000	0.11579	0.080000	0.17528	0.574000	0.23714	0.009000	0.14813	0.313000	0.20887	CGC	G|1.000;A|0.000		0.572	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771	
FOXD4L5	653427	hgsc.bcm.edu	37	9	70177822	70177822	+	Silent	SNP	T	T	C	rs199878768	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr9:70177822T>C	ENST00000377420.1	-	1	993	c.162A>G	c.(160-162)tcA>tcG	p.S54S		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	54					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|lung(2)	7						CCGGCTGGAGTGACTGCTCTA	0.642													C|||	4144	0.827476	0.5461	0.9337	5008	,	,		2717	0.8869		0.9573	False		,,,				2504	0.9376				p.S54S		.											.	.	0			c.A162G						.						23.0	1.0	10.0					9																	70177822		359	613	972	SO:0001819	synonymous_variant	653427	exon1			CTGGAGTGACTGC		CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.162A>G	9.37:g.70177822T>C		3	0		66	60	NM_001126334	0	0	0	0	0		Silent	SNP	ENST00000377420.1	37	CCDS47977.1																																																																																			C|1.000;|0.000		0.642	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037122.1	NM_001126334	
ZCCHC6	79670	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	9	88968081	88968081	+	Missense_Mutation	SNP	G	G	A	rs142251867		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr9:88968081G>A	ENST00000375963.3	-	2	206	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375947.1_5'Flank|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.R12C|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R12C	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	12					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCTTTAGTGCGCTTCACGAAA	0.408																																					p.R12C		.											.	ZCCHC6-92	0			c.C34T						.	G	CYS/ARG,CYS/ARG,CYS/ARG	0,4398		0,0,2199	116.0	124.0	121.0		34,34,34	3.7	0.5	9	dbSNP_134	121	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	ZCCHC6	NM_001185059.1,NM_001185074.1,NM_024617.3	180,180,180	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	12/1496,12/1260,12/1496	88968081	1,12993	2199	4298	6497	SO:0001583	missense	79670	exon2			TAGTGCGCTTCAC	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.34C>T	9.37:g.88968081G>A	ENSP00000365130:p.Arg12Cys	18	0		17	11	NM_024617	0	0	0	0	0	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772141	0.69992	0.0	1.16E-4	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	T;T;T	0.52057	0.68;0.68;0.7	4.57	3.65	0.41850	.	0.302577	0.28700	N	0.014427	T	0.45856	0.1363	N	0.24115	0.695	0.38029	D	0.9351	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.997	P;P;P;P;P	0.54100	0.629;0.629;0.736;0.742;0.635	T	0.55218	-0.8175	10	0.87932	D	0	-2.3239	12.9092	0.58171	0.0:0.1632:0.8368:0.0	.	12;12;12;12;12	Q5VYS8-3;Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;.;TUT7_HUMAN	C	12	ENSP00000365127:R12C;ENSP00000365128:R12C;ENSP00000365130:R12C	ENSP00000365127:R12C	R	-	1	0	ZCCHC6	88157901	1.000000	0.71417	0.486000	0.27416	0.990000	0.78478	2.622000	0.46427	1.103000	0.41568	0.586000	0.80456	CGC	G|1.000;A|0.000		0.408	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617	
PHF2	5253	hgsc.bcm.edu	37	9	96439007	96439007	+	Silent	SNP	G	G	T	rs10992855		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr9:96439007G>T	ENST00000359246.4	+	21	3331	c.2964G>T	c.(2962-2964)ccG>ccT	p.P988P	PHF2_ENST00000375376.4_Silent_p.P219P	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	988	Ser/Thr-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		ctaccaccccggcctccacca	0.692																																					p.P988P		.											.	PHF2-91	0			c.G2964T						.						81.0	60.0	67.0					9																	96439007		2152	4236	6388	SO:0001819	synonymous_variant	5253	exon21			CACCCCGGCCTCC	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2964G>T	9.37:g.96439007G>T		30	0		66	4	NM_005392	0	0	2	2	0	Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	CCDS35069.1																																																																																			G|0.630;T|0.370		0.692	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392	
OR13C8	138802	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	107331706	107331706	+	Silent	SNP	G	G	T			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr9:107331706G>T	ENST00000335040.1	+	1	258	c.258G>T	c.(256-258)ctG>ctT	p.L86L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CCAGCTTTCTGGCAGTAAAGA	0.473																																					p.L86L		.											.	OR13C8-70	0			c.G258T						.						191.0	186.0	188.0					9																	107331706		2203	4300	6503	SO:0001819	synonymous_variant	138802	exon1			CTTTCTGGCAGTA		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.258G>T	9.37:g.107331706G>T		108	0		97	31	NM_001004483	0	0	0	0	0	Q5VVG0|Q96R44	Silent	SNP	ENST00000335040.1	37	CCDS35090.1																																																																																			.		0.473	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1		
LAMC3	10319	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	133914550	133914550	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr9:133914550A>G	ENST00000361069.4	+	6	1331	c.1198A>G	c.(1198-1200)Acc>Gcc	p.T400A	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	400	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGACACAGGCACCTGCGCCTG	0.657																																					p.T400A		.											.	LAMC3-93	0			c.A1198G						.						70.0	61.0	64.0					9																	133914550		2203	4300	6503	SO:0001583	missense	10319	exon6			ACAGGCACCTGCG	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1198A>G	9.37:g.133914550A>G	ENSP00000354360:p.Thr400Ala	104	0		80	66	NM_006059	0	0	0	0	0	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	A	7.348	0.622188	0.14193	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.60797	0.16	5.11	1.13	0.20643	EGF-like, laminin (3);	0.546216	0.21723	N	0.070100	T	0.39306	0.1073	L	0.37507	1.11	0.23010	N	0.99843	B	0.12013	0.005	B	0.12837	0.008	T	0.27839	-1.0062	10	0.52906	T	0.07	.	1.931	0.03327	0.5834:0.135:0.1514:0.1303	.	400	Q9Y6N6	LAMC3_HUMAN	A	400	ENSP00000354360:T400A	ENSP00000325873:T400A	T	+	1	0	LAMC3	132904371	0.000000	0.05858	0.367000	0.25926	0.603000	0.37013	-0.084000	0.11268	-0.002000	0.14469	0.528000	0.53228	ACC	.		0.657	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059	
NOTCH1	4851	broad.mit.edu	37	9	139397707	139397707	+	Silent	SNP	G	G	A	rs10521	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr9:139397707G>A	ENST00000277541.6	-	27	5169	c.5094C>T	c.(5092-5094)gaC>gaT	p.D1698D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1698					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D1699D(11)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGCGGCCACGTCGGTGGCAC	0.632			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			G|||	2772	0.553514	0.5552	0.5115	5008	,	,		17626	0.9018		0.4046	False		,,,				2504	0.3753				p.D1698D		.		Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	.	NOTCH1-5459	11	Substitution - coding silent(11)	haematopoietic_and_lymphoid_tissue(11)	c.C5094T						.	G		2208,2062		587,1034,514	57.0	67.0	64.0		5094	-4.9	0.8	9	dbSNP_52	64	3010,5508		545,1920,1794	no	coding-synonymous	NOTCH1	NM_017617.3		1132,2954,2308	AA,AG,GG		35.3369,48.2904,40.8039		1698/2556	139397707	5218,7570	2135	4259	6394	SO:0001819	synonymous_variant	4851	exon27			GGCCACGTCGGTG	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5094C>T	9.37:g.139397707G>A		102	2		91	5	NM_017617	0	0	0	0	0	Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	CCDS43905.1																																																																																			G|0.465;A|0.535		0.632	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617	
GAGE2D	729408	hgsc.bcm.edu	37	X	49208323	49208323	+	Missense_Mutation	SNP	G	G	C	rs200761716		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chrX:49208323G>C	ENST00000404720.2	+	2	124	c.52G>C	c.(52-54)Gag>Cag	p.E18Q		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	18					cellular defense response (GO:0006968)												ACGCTACGTAGAGCCTCCTGA	0.443																																					p.E18Q		.											.	.	0			c.G52C						.																																			SO:0001583	missense	729447	exon2			TACGTAGAGCCTC			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.52G>C	X.37:g.49208323G>C	ENSP00000386110:p.Glu18Gln	24	0		38	2	NM_001127212	0	0	0	0	0	A6NG46|A6NNR8|B7ZL76|Q4V325	Missense_Mutation	SNP	ENST00000404720.2	37	CCDS43941.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.640177	0.00112	.	.	ENSG00000240257	ENST00000404720	T	0.08193	3.12	0.577	-0.505	0.11993	.	.	.	.	.	T	0.03178	0.0093	N	0.11927	0.2	0.09310	N	1	.	.	.	.	.	.	T	0.45629	-0.9248	6	0.06891	T	0.86	.	.	.	.	.	.	.	.	Q	18	ENSP00000386110:E18Q	ENSP00000365346:E18Q	E	+	1	0	GAGE2D	49095267	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.685000	0.05167	-0.279000	0.09167	0.263000	0.19301	GAG	.		0.443	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407	
RGAG1	57529	bcgsc.ca	37	X	109697443	109697443	+	Missense_Mutation	SNP	T	T	C	rs41306249	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chrX:109697443T>C	ENST00000465301.2	+	3	3844	c.3598T>C	c.(3598-3600)Tgg>Cgg	p.W1200R	RGAG1_ENST00000540313.1_Missense_Mutation_p.W1200R	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1200										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGCAGAGAGGTGGTTCATCTT	0.438													T|||	39	0.0103311	0.0008	0.0187	3775	,	,		17038	0.0		0.0249	False		,,,				2504	0.0				p.W1200R		.											.	RGAG1-132	0			c.T3598C						.	T	ARG/TRP	26,3809		0,21,5,1611,566	118.0	111.0	113.0		3598	4.3	1.0	X	dbSNP_127	113	286,6442		6,197,77,2225,1795	yes	missense	RGAG1	NM_020769.2	101	6,218,82,3836,2361	CC,CT,C,TT,T		4.2509,0.678,2.9537	probably-damaging	1200/1389	109697443	312,10251	2203	4300	6503	SO:0001583	missense	57529	exon3			GAGAGGTGGTTCA	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3598T>C	X.37:g.109697443T>C	ENSP00000419786:p.Trp1200Arg	111	0		159	6	NM_020769	0	0	0	0	0	Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	27	0.0162748643761302	1	0.0020325203252032522	5	0.014124293785310734	0	0.0	12	0.016042780748663103	T	14.78	2.636869	0.47049	0.00678	0.042509	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.69685	-0.42;-0.42	4.26	4.26	0.50523	.	0.203472	0.25060	N	0.033442	T	0.37404	0.1002	L	0.34521	1.04	0.34940	P	0.24976600000000004	D	0.71674	0.998	D	0.70935	0.971	T	0.65973	-0.6038	8	.	.	.	-0.4616	8.7451	0.34580	0.0:0.0:0.0:1.0	rs41306249;rs62595770	1200	Q8NET4	RGAG1_HUMAN	R	1200;1200;761	ENSP00000419786:W1200R;ENSP00000441452:W1200R	.	W	+	1	0	RGAG1	109584099	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.093000	0.50217	1.885000	0.54596	0.486000	0.48141	TGG	T|0.977;C|0.023		0.438	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769	
SOWAHD	347454	hgsc.bcm.edu	37	X	118892888	118892888	+	Silent	SNP	G	G	C	rs2782222	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chrX:118892888G>C	ENST00000343905.3	+	1	313	c.258G>C	c.(256-258)gcG>gcC	p.A86A		NM_001105576.2	NP_001099046.1	A6NJG2	SWAHD_HUMAN	sosondowah ankyrin repeat domain family member D	86																	CGGCTCCTGCGGGGTGGCTGT	0.751													c|||	2295	0.607947	0.4735	0.4841	3775	,	,		7549	0.372		0.495	False		,,,				2504	0.4703				p.A86A		.											.	.	0			c.G258C						.			1145,466		378,253,136,67,79	1.0	2.0	2.0		258	2.3	0.0	X	dbSNP_100	2	2545,1233		737,547,524,198,290	no	coding-synonymous	ANKRD58	NM_001105576.2		1115,800,660,265,369	CC,CG,C,GG,G		32.6363,28.9261,31.5272		86/316	118892888	3690,1699	913	2296	3209	SO:0001819	synonymous_variant	347454	exon1			TCCTGCGGGGTGG		CCDS43984.1	Xq24	2013-01-10	2012-01-12	2012-01-12	ENSG00000187808	ENSG00000187808		"""Ankyrin repeat domain containing"""	32960	protein-coding gene	gene with protein product			"""ankyrin repeat domain 58"""	ANKRD58		22234889	Standard	NM_001105576		Approved		uc010nql.3	A6NJG2	OTTHUMG00000159606	ENST00000343905.3:c.258G>C	X.37:g.118892888G>C		0	0		2	2	NM_001105576	0	0	0	0	0		Silent	SNP	ENST00000343905.3	37	CCDS43984.1																																																																																			G|0.401;C|0.599		0.751	SOWAHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356469.1	NM_001105576	
MAGEC1	9947	hgsc.bcm.edu	37	X	140994252	140994252	+	Missense_Mutation	SNP	C	C	A	rs145693793		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chrX:140994252C>A	ENST00000285879.4	+	4	1348	c.1062C>A	c.(1060-1062)ttC>ttA	p.F354L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	354										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTATTTTCCAGAGTTCTC	0.483										HNSCC(15;0.026)																											p.F354L		.											.	MAGEC1-133	0			c.C1062A						.						106.0	107.0	106.0					X																	140994252		2199	4292	6491	SO:0001583	missense	9947	exon4			TATTTTCCAGAGT	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1062C>A	X.37:g.140994252C>A	ENSP00000285879:p.Phe354Leu	30	1		75	5	NM_005462	0	0	0	0	0	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	3.616	-0.078650	0.07141	.	.	ENSG00000155495	ENST00000285879	T	0.02085	4.46	.	.	.	.	.	.	.	.	T	0.01765	0.0056	N	0.08118	0	0.32719	N	0.510521	P	0.43392	0.805	P	0.45506	0.483	T	0.52253	-0.8600	8	0.87932	D	0	.	5.9409	0.19192	0.0:0.9994:0.0:6.0E-4	.	354	O60732	MAGC1_HUMAN	L	354	ENSP00000285879:F354L	ENSP00000285879:F354L	F	+	3	2	MAGEC1	140821918	0.092000	0.21681	0.016000	0.15963	0.016000	0.09150	0.834000	0.27518	0.148000	0.19059	0.150000	0.16122	TTC	C|0.999;A|0.001		0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
IRAK1	3654	bcgsc.ca	37	X	153284483	153284483	+	Silent	SNP	G	G	A	rs1059701	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chrX:153284483G>A	ENST00000369980.3	-	4	650	c.483C>T	c.(481-483)gtC>gtT	p.V161V	IRAK1_ENST00000393687.2_Silent_p.V161V|MIR718_ENST00000390190.2_RNA|IRAK1_ENST00000369974.2_Silent_p.V161V|IRAK1_ENST00000477274.1_5'Flank|IRAK1_ENST00000393682.1_Silent_p.V187V|IRAK1_ENST00000429936.2_Silent_p.V187V	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	161	ProST region.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.V161V(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGGCTTGGGACCAGGCCGA	0.612													G|||	1537	0.407152	0.1808	0.366	3775	,	,		12467	0.1548		0.6213	False		,,,				2504	0.2689				p.V161V		.											.	IRAK1-1074	1	Substitution - coding silent(1)	stomach(1)	c.C483T						.	G	,,	1147,2686		161,679,146,792,423	49.0	52.0	51.0		483,483,483	1.1	0.0	X	dbSNP_86	51	5408,1319		1581,754,1492,93,379	no	coding-synonymous,coding-synonymous,coding-synonymous	IRAK1	NM_001025242.1,NM_001025243.1,NM_001569.3	,,	1742,1433,1638,885,802	AA,AG,A,GG,G		19.6076,29.9243,37.9261	,,	161/683,161/634,161/713	153284483	6555,4005	2201	4299	6500	SO:0001819	synonymous_variant	3654	exon4			GCTTGGGACCAGG	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.483C>T	X.37:g.153284483G>A		40	0		67	5	NM_001569	0	0	2	2	0	D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Silent	SNP	ENST00000369980.3	37	CCDS14740.1																																																																																			0|0.004;T|0.127;G|0.320;C|0.137;A|0.413		0.612	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3		
Unknown	0	bcgsc.ca	37	Y	21154569	21154569	+	IGR	SNP	A	A	G	rs17855271		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chrY:21154569A>G								TTTY14 (114455 upstream) : RNU6-255P (26299 downstream)																							GCCCCAGCCCAAGCCTGGCCA	0.612																																					p.L9L		.											.	.	0			c.T27C						.																																			SO:0001628	intergenic_variant	100133941	exon1			CAGCCCAAGCCTG																													Y.37:g.21154569A>G		38	1		27	14	NM_013230	0	0	0	0	0		Silent	SNP		37																																																																																				.	0	0.612								
KCNN3	3782	hgsc.bcm.edu;broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCTGCTGCTGCTGCTGCT	rs56352724|rs3831942|rs367921715|rs58327065		TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr1:154842199_154842200insGCTGCTGCTGCTGCTGCT	ENST00000271915.4	-	1	556_557	c.241_242insAGCAGCAGCAGCAGCAGC	c.(241-243)cca>cAGCAGCAGCAGCAGCAGCca	p.80_81insQQQQQQ	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Gln-rich.		Missing.		potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGGATGCGGTGgctgctgctgc	0.698																																					p.P81delinsQQQQQQP		.											.	KCNN3-91	2	Insertion - In frame(2)	prostate(2)	c.242_243insAGCAGCAGCAGCAGCAGC						.																																			SO:0001652	inframe_insertion	3782	exon1			TGCGGTGGCTGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.224_241dupAGCAGCAGCAGCAGCAGC	1.37:g.154842199_154842200insGCTGCTGCTGCTGCTGCT	ENSP00000271915:p.Gln75_Gln80dup	11	0		47	0	NM_001204087	0	0	0	0	0	B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Ins	INS	ENST00000271915.4	37	CCDS30880.1																																																																																			.		0.698	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249	
KRTAP4-5	85289	bcgsc.ca	37	17	39305775	39305776	+	In_Frame_Ins	INS	-	-	GGCAGCAGCTGGGGC	rs535144703|rs141265645|rs58117746|rs146438235	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr17:39305775_39305776insGGCAGCAGCTGGGGC	ENST00000343246.4	-	1	278_279	c.244_245insGCCCCAGCTGCTGCC	c.(244-246)cag>cGCCCCAGCTGCTGCCag	p.81_82insRPSCC		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	81	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcaggtggtctggcagcagcag	0.653														2119	0.423123	0.5401	0.4236	5008	,	,		17097	0.3065		0.3897	False		,,,				2504	0.4192				p.Q82delinsRPSCCQ		.											.	KRTAP4-5-90	0			c.245_246insGCCCCAGCTGCTGCC						.																																			SO:0001652	inframe_insertion	85289	exon1			GTGGTCTGGCAGC	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.244_245insGCCCCAGCTGCTGCC	17.37:g.39305775_39305776insGGCAGCAGCTGGGGC	ENSP00000340546:p.Cys81_Gln82insArgProSerCysCys	21	0		82	43	NM_033188	0	0	0	0	0		In_Frame_Ins	INS	ENST00000343246.4	37	CCDS32650.1																																																																																			.		0.653	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1		
AGAP3	116988	broad.mit.edu	37	7	150831565	150831566	+	Frame_Shift_Ins	INS	-	-	G			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr7:150831565_150831566insG	ENST00000463381.1	+	11	1217_1218	c.721_722insG	c.(721-723)cgafs	p.R241fs	AGAP3_ENST00000397238.2_Frame_Shift_Ins_p.R469fs	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	520	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.R469*(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCGCCTGCCCCGAGCCACACCT	0.663																																					p.R469fs		.											.	AGAP3-92	1	Substitution - Nonsense(1)	large_intestine(1)	c.1405_1406insG						.																																			SO:0001589	frameshift_variant	116988	exon11			CTGCCCCGAGCCA	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.722dupG	7.37:g.150831566_150831566dupG	ENSP00000418016:p.Arg241fs	97	0		361	8	NM_031946	0	0	0	0	0	B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Frame_Shift_Ins	INS	ENST00000463381.1	37																																																																																				.		0.663	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946	
KRTAP10-6	386674	hgsc.bcm.edu	37	21	46011708	46011709	+	Missense_Mutation	DNP	TG	TG	CA	rs587764742|rs200461683	byFrequency	TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr21:46011708_46011709TG>CA	ENST00000400368.1	-	1	677_678	c.657_658CA>TG	c.(655-660)tgCAcc>tgTGcc	p.T220A	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	220	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGGGAGGAGGTGCAGCAAGTTG	0.663																																					p.T220A		.											.	KRTAP10-6-90	0			c.C657T						.																																			SO:0001583	missense	386674	exon1			GGAGGTGCAGCAA	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.657_658delinsCA	21.37:g.46011708_46011709delinsCA	ENSP00000383219:p.Thr220Ala	97	0		336	0	NM_198688	0	0	0	0	0		Missense_Mutation	DNP	ENST00000400368.1	37	CCDS42959.1																																																																																			.		0.663	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688	
KRTAP10-7	386675	hgsc.bcm.edu	37	21	46020747	46020748	+	Missense_Mutation	DNP	AC	AC	GT			TCGA-OR-A5K3-01A-11D-A29I-10	TCGA-OR-A5K3-10A-01D-A29L-10	AC	AC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0dfae10a-d49c-4d1f-8923-63483f0a892b	79ef4688-1bab-492a-ae7f-64b94bff5c94	g.chr21:46020747_46020748AC>GT	ENST00000380102.2	+	1	251_252	c.226_227AC>GT	c.(226-228)ACc>GTc	p.T76V	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	76	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CTGCCCAGTGACCTGTGAGCCC	0.718																																					p.T76V		.											.	.	0			c.C212T						.																																			SO:0001583	missense	386675	exon2			CAGTGACCTGTGA	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	Exception_encountered	21.37:g.46020747_46020748delinsGT	ENSP00000369445:p.Thr76Val	24	0		108	0	NM_198689	0	0	0	0	0	Q0VDJ8|Q70LJ2	Missense_Mutation	DNP	ENST00000380102.2	37																																																																																				.		0.718	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
