#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
ARHGEF16	27237	ucsc.edu;bcgsc.ca	37	1	3395174	3395174	+	Silent	SNP	C	C	A	rs61734742	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:3395174C>A	ENST00000378378.4	+	12	2217	c.1812C>A	c.(1810-1812)tcC>tcA	p.S604S	ARHGEF16_ENST00000378373.1_Silent_p.S316S|ARHGEF16_ENST00000378371.2_Silent_p.S316S|ARHGEF16_ENST00000413250.2_Silent_p.S308S	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	604	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCTCGGACTCCGCGTAAGTGG	0.682													C|||	457	0.091254	0.0061	0.1427	5008	,	,		14942	0.1935		0.0577	False		,,,				2504	0.0992				p.S604S		.											.	ARHGEF16-228	0			c.C1812A						.	C		85,4283	64.7+/-102.0	1,83,2100	24.0	28.0	27.0		1812	-8.6	0.2	1	dbSNP_129	27	587,7971	147.1+/-202.6	20,547,3712	no	coding-synonymous	ARHGEF16	NM_014448.3		21,630,5812	AA,AC,CC		6.8591,1.946,5.1988		604/710	3395174	672,12254	2184	4279	6463	SO:0001819	synonymous_variant	27237	exon12			GGACTCCGCGTAA	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1812C>A	1.37:g.3395174C>A		72	0		64	7	NM_014448	0	0	0	0	0	Q86TF0|Q99434	Silent	SNP	ENST00000378378.4	37	CCDS46.2																																																																																			C|0.938;A|0.062		0.682	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448	
PEX14	5195	bcgsc.ca	37	1	10596341	10596341	+	Silent	SNP	C	C	T	rs12375	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:10596341C>T	ENST00000356607.4	+	3	236	c.156C>T	c.(154-156)ttC>ttT	p.F52F	PEX14_ENST00000538836.1_Intron|PEX14_ENST00000492696.1_3'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	52					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GGAGAGCATTCCTAAAGAAGA	0.562													C|||	1142	0.228035	0.0658	0.4265	5008	,	,		16571	0.2004		0.3141	False		,,,				2504	0.2464				p.F52F		.											.	PEX14-90	0			c.C156T						.	C		472,3934	220.7+/-238.1	30,412,1761	52.0	50.0	51.0		156	3.4	1.0	1	dbSNP_52	51	2770,5830	432.8+/-357.2	469,1832,1999	no	coding-synonymous	PEX14	NM_004565.2		499,2244,3760	TT,TC,CC		32.2093,10.7127,24.927		52/378	10596341	3242,9764	2203	4300	6503	SO:0001819	synonymous_variant	5195	exon3			AGCATTCCTAAAG	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.156C>T	1.37:g.10596341C>T		273	0		172	8	NM_004565	0	0	0	0	0	B2R7N1|B3KML6|B7Z1N2|Q8WX51	Silent	SNP	ENST00000356607.4	37	CCDS30582.1																																																																																			C|0.770;T|0.230		0.562	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1		
MTHFR	4524	bcgsc.ca	37	1	11850927	11850927	+	Missense_Mutation	SNP	C	C	T	rs2274976	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:11850927C>T	ENST00000376592.1	-	11	1909	c.1781G>A	c.(1780-1782)cGg>cAg	p.R594Q	MTHFR_ENST00000376590.3_Missense_Mutation_p.R594Q|MTHFR_ENST00000376585.1_Missense_Mutation_p.R635Q|MTHFR_ENST00000376583.3_Missense_Mutation_p.R635Q			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	594			R -> Q (in dbSNP:rs2274976). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}.		blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	CTTTCCCCACCGCTCAATCCA	0.557													C|||	373	0.0744808	0.0227	0.0418	5008	,	,		19254	0.1181		0.0338	False		,,,				2504	0.1646				p.R594Q		.											.	MTHFR-90	0			c.G1781A	GRCh37	CM056008	MTHFR	M	rs2274976	.	C	GLN/ARG	131,4275	95.3+/-134.0	1,129,2073	181.0	162.0	168.0		1781	3.0	1.0	1	dbSNP_100	168	397,8203	127.3+/-185.7	6,385,3909	yes	missense	MTHFR	NM_005957.4	43	7,514,5982	TT,TC,CC		4.6163,2.9732,4.0597	benign	594/657	11850927	528,12478	2203	4300	6503	SO:0001583	missense	4524	exon12			CCCCACCGCTCAA	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1781G>A	1.37:g.11850927C>T	ENSP00000365777:p.Arg594Gln	199	3		260	9	NM_005957	0	0	0	0	0	B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	CCDS137.1	112	0.05128205128205128	10	0.02032520325203252	16	0.04419889502762431	57	0.09965034965034965	29	0.03825857519788918	C	8.813	0.935719	0.18206	0.029732	0.046163	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	T;T;T;T	0.80909	-1.43;-1.42;-1.43;-1.42	5.31	2.99	0.34606	.	0.104915	0.64402	N	0.000002	T	0.01454	0.0047	N	0.00517	-1.405	0.42732	P	0.006286000000000014	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26326	-1.0106	9	0.02654	T	1	.	9.1481	0.36946	0.0:0.1498:0.0:0.8502	rs2274976;rs17854807;rs52829200;rs58316272;rs2274976	594;635	P42898;Q5SNW6	MTHR_HUMAN;.	Q	594;635;594;635	ENSP00000365777:R594Q;ENSP00000365767:R635Q;ENSP00000365775:R594Q;ENSP00000365770:R635Q	ENSP00000365767:R635Q	R	-	2	0	MTHFR	11773514	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.211000	0.51137	0.336000	0.23639	-0.415000	0.06103	CGG	C|0.949;T|0.051		0.557	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957	
HNRNPCL1	343069	ucsc.edu;bcgsc.ca	37	1	12907358	12907358	+	Missense_Mutation	SNP	T	T	C	rs74587302|rs559905244	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:12907358T>C	ENST00000317869.6	-	2	1010	c.785A>G	c.(784-786)cAg>cGg	p.Q262R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	262						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GTCATCCCCCTGATCTTCATT	0.498																																					p.Q262R		.											.	HNRNPCL1-68	0			c.A785G						.						143.0	157.0	152.0					1																	12907358		2203	4300	6503	SO:0001583	missense	343069	exon2			TCCCCCTGATCTT	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.785A>G	1.37:g.12907358T>C	ENSP00000365370:p.Gln262Arg	88	0		59	10	NM_001013631	0	0	0	0	0	B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.089806	0.00367	.	.	ENSG00000179172	ENST00000317869	T	0.09445	2.98	0.343	-0.686	0.11324	.	2.239460	0.02976	N	0.145045	T	0.04724	0.0128	N	0.02830	-0.485	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33650	-0.9860	10	0.33940	T	0.23	.	3.9448	0.09344	0.0:0.3889:0.0:0.6111	.	262	O60812	HNRCL_HUMAN	R	262	ENSP00000365370:Q262R	ENSP00000365370:Q262R	Q	-	2	0	HNRNPCL1	12829945	0.213000	0.23551	0.005000	0.12908	0.003000	0.03518	0.096000	0.15147	-0.605000	0.05753	-0.620000	0.04034	CAG	.		0.498	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631	
AGMAT	79814	ucsc.edu;bcgsc.ca	37	1	15909850	15909850	+	Missense_Mutation	SNP	C	C	G	rs6429757	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:15909850C>G	ENST00000375826.3	-	2	455	c.313G>C	c.(313-315)Ggg>Cgg	p.G105R	DNAJC16_ENST00000483270.1_Intron|RP4-680D5.2_ENST00000428945.1_RNA	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	105			G -> R (in dbSNP:rs6429757). {ECO:0000269|PubMed:11804860, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TTGACTGTCCCAAGCATCACT	0.527													G|||	3171	0.633187	0.9017	0.5274	5008	,	,		18672	0.6359		0.5288	False		,,,				2504	0.4499				p.G105R	NSCLC(126;1678 1780 25805 43508 49531)	.											.	AGMAT-91	0			c.G313C						.	G	ARG/GLY	3749,657	279.0+/-274.6	1598,553,52	63.0	57.0	59.0		313	-1.4	0.0	1	dbSNP_116	59	4755,3845	541.2+/-384.0	1338,2079,883	yes	missense	AGMAT	NM_024758.4	125	2936,2632,935	GG,GC,CC		44.7093,14.9115,34.6148	benign	105/353	15909850	8504,4502	2203	4300	6503	SO:0001583	missense	79814	exon2			CTGTCCCAAGCAT	AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.313G>C	1.37:g.15909850C>G	ENSP00000364986:p.Gly105Arg	74	0		70	7	NM_024758	0	0	0	0	0	Q5TDH1|Q9H5J3	Missense_Mutation	SNP	ENST00000375826.3	37	CCDS160.1	1383	0.6332417582417582	428	0.8699186991869918	193	0.5331491712707183	344	0.6013986013986014	418	0.5514511873350924	G	0.008	-1.909524	0.00508	0.850885	0.552907	ENSG00000116771	ENST00000375826	D	0.84800	-1.9	5.13	-1.41	0.08941	Ureohydrolase domain (1);	0.051023	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00405	-1.535	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.34900	-0.9810	9	0.02654	T	1	-8.5468	3.7841	0.08692	0.0764:0.1895:0.3075:0.4267	rs6429757;rs17856129;rs56615894;rs6429757	105	Q9BSE5	SPEB_HUMAN	R	105	ENSP00000364986:G105R	ENSP00000364986:G105R	G	-	1	0	AGMAT	15782437	0.997000	0.39634	0.010000	0.14722	0.138000	0.21146	0.598000	0.24074	-0.321000	0.08627	-0.986000	0.02555	GGG	C|0.348;G|0.652		0.527	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758	
WASF2	10163	broad.mit.edu;bcgsc.ca	37	1	27736665	27736665	+	Missense_Mutation	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:27736665G>A	ENST00000430629.2	-	8	1075	c.860C>T	c.(859-861)gCt>gTt	p.A287V	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	287					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TTTGGGTCCAGCCAAACCAGA	0.517																																					p.A287V		.											.	WASF2-228	0			c.C860T						.						50.0	51.0	50.0					1																	27736665		2203	4300	6503	SO:0001583	missense	10163	exon8			GGTCCAGCCAAAC	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.860C>T	1.37:g.27736665G>A	ENSP00000396211:p.Ala287Val	68	1		105	25	NM_006990	0	0	0	0	0	B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	37	CCDS304.1	.	.	.	.	.	.	.	.	.	.	g	14.36	2.512460	0.44660	.	.	ENSG00000158195	ENST00000430629	T	0.45276	0.9	4.16	3.25	0.37280	.	0.682031	0.13509	N	0.382617	T	0.28896	0.0717	L	0.39898	1.24	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08106	-1.0738	10	0.21014	T	0.42	-2.0245	4.6268	0.12482	0.2052:0.2493:0.5455:0.0	.	287	Q9Y6W5	WASF2_HUMAN	V	287	ENSP00000396211:A287V	ENSP00000396211:A287V	A	-	2	0	WASF2	27609252	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.209000	0.32357	0.971000	0.38288	0.443000	0.29094	GCT	.		0.517	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990	
OPRD1	4985	hgsc.bcm.edu	37	1	29138975	29138975	+	Missense_Mutation	SNP	G	G	T	rs1042114	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:29138975G>T	ENST00000234961.2	+	1	322	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	27			C -> F (improved maturation and increased expression at the cell surface; dbSNP:rs1042114). {ECO:0000269|PubMed:10982041, ECO:0000269|PubMed:8201839, ECO:0000269|Ref.4}.		adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCTAGCGCCTGCCCCAGCGCT	0.771													T|||	4730	0.944489	0.9796	0.9193	5008	,	,		9147	1.0		0.8678	False		,,,				2504	0.9366				p.C27F		.											.	OPRD1-69	0			c.G80T						.	T	PHE/CYS	3689,115		1788,113,1	4.0	6.0	5.0	http://www.ncbi.nlm.nih.gov/omim/103780,165195|http://omim.org/entry/165195|http://omim.org/entry/103780	80	2.9	1.0	1	dbSNP_86	5	6762,846		2982,798,24	no	missense	OPRD1	NM_000911.3	205	4770,911,25	TT,TG,GG		11.1199,3.0231,8.421	benign	27/373	29138975	10451,961	1902	3804	5706	SO:0001583	missense	4985	exon1			GCGCCTGCCCCAG	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.80G>T	1.37:g.29138975G>T	ENSP00000234961:p.Cys27Phe	0	0		16	16	NM_000911	0	0	0	0	0	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	2035	0.9317765567765568	474	0.9634146341463414	331	0.914364640883978	572	1.0	658	0.8680738786279684	T	0.016	-1.513433	0.00975	0.969769	0.888801	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.67698	-0.28	4.0	2.89	0.33648	.	1.802200	0.02327	N	0.073605	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41342	-0.9514	9	0.09338	T	0.73	.	3.8109	0.08796	0.0:0.1144:0.2238:0.6618	rs1042114;rs59349662;rs1042114	27	P41143	OPRD_HUMAN	F	27	ENSP00000234961:C27F	ENSP00000234961:C27F	C	+	2	0	OPRD1	29011562	0.002000	0.14202	0.992000	0.48379	0.116000	0.19942	0.521000	0.22893	0.713000	0.32060	-0.694000	0.03704	TGC	G|0.061;T|0.939		0.771	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911	
C1orf94	84970	broad.mit.edu	37	1	34666398	34666398	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:34666398delA	ENST00000488417.1	+	3	1155	c.1035delA	c.(1033-1035)ccafs	p.P345fs	C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	345										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCAAGGAGCCAAAAAAGGGTC	0.572																																					p.P345fs		.											.	C1orf94-90	0			c.1035delA						.						71.0	69.0	70.0					1																	34666398		2203	4300	6503	SO:0001589	frameshift_variant	84970	exon3			GGAGCCAAAAAAG	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1035delA	1.37:g.34666398delA	ENSP00000435634:p.Pro345fs	143	0		180	7	NM_001134734	0	0	0	0	0	B3KVT1|D3DPR3|E9PJ76|Q96IC8	Frame_Shift_Del	DEL	ENST00000488417.1	37	CCDS44108.1																																																																																			.		0.572	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884	
MACF1	23499	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	39920766	39920766	+	Missense_Mutation	SNP	T	T	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:39920766T>A	ENST00000372915.3	+	88	20856	c.20769T>A	c.(20767-20769)caT>caA	p.H6923Q	MACF1_ENST00000545844.1_Missense_Mutation_p.H4965Q|MACF1_ENST00000564288.1_Missense_Mutation_p.H7024Q|MACF1_ENST00000567887.1_Missense_Mutation_p.H7061Q|MACF1_ENST00000317713.7_Missense_Mutation_p.H4965Q|MACF1_ENST00000289893.4_Missense_Mutation_p.H5467Q|MACF1_ENST00000361689.2_Missense_Mutation_p.H4965Q|MACF1_ENST00000539005.1_Missense_Mutation_p.H4835Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6923					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCGCTGAGCATCAGGTATCTT	0.493																																					p.H4965Q		.											.	MACF1-165	0			c.T14895A						.						125.0	107.0	113.0					1																	39920766		2203	4300	6503	SO:0001583	missense	23499	exon86			TGAGCATCAGGTA	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.20769T>A	1.37:g.39920766T>A	ENSP00000362006:p.His6923Gln	110	0		115	8	NM_012090	0	0	0	0	0	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	21.6|21.6|21.6	4.168454|4.168454|4.168454	0.78339|0.78339|0.78339	.|.|.	.|.|.	ENSG00000127603|ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000360115|ENST00000372925	T;T;T;T;T;T|.|.	0.58940|.|.	0.95;0.95;0.95;0.3;0.95;0.95|.|.	5.63|5.63|5.63	2.0|2.0|2.0	0.26442|0.26442|0.26442	.|.|.	0.000000|.|.	0.64402|.|.	D|.|.	0.000006|.|.	T|T|T	0.73799|0.73799|0.73799	0.3633|0.3633|0.3633	M|M|M	0.86420|0.86420|0.86420	2.815|2.815|2.815	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.89917|.|.	0.999;1.0|.|.	D;D|.|.	0.91635|.|.	0.997;0.999|.|.	T|T|T	0.72697|0.72697|0.72697	-0.4215|-0.4215|-0.4215	10|5|5	0.87932|.|.	D|.|.	0|.|.	.|.|.	8.5531|8.5531|8.5531	0.33465|0.33465|0.33465	0.0:0.4224:0.0:0.5776|0.0:0.4224:0.0:0.5776|0.0:0.4224:0.0:0.5776	.|.|.	6923;4965|.|.	Q9UPN3;F8W8Q1|.|.	MACF1_HUMAN;.|.|.	Q|N|T	4965;6923;4965;4965;4835;5467|67|3969	ENSP00000439537:H4965Q;ENSP00000362006:H6923Q;ENSP00000354573:H4965Q;ENSP00000313438:H4965Q;ENSP00000444364:H4835Q;ENSP00000289893:H5467Q|.|.	ENSP00000289893:H5467Q|.|.	H|I|S	+|+|+	3|2|1	2|0|0	MACF1|MACF1|MACF1	39693353|39693353|39693353	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.938000|0.938000|0.938000	0.57974|0.57974|0.57974	1.204000|1.204000|1.204000	0.32296|0.32296|0.32296	0.423000|0.423000|0.423000	0.26033|0.26033|0.26033	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	CAT|ATC|TCA	.		0.493	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
KDM4A	9682	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	44134891	44134891	+	Silent	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:44134891G>A	ENST00000372396.3	+	10	1418	c.1284G>A	c.(1282-1284)acG>acA	p.T428T		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	428					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						ATGAGATGACGGAGTGCCCGG	0.542																																					p.T428T		.											.	KDM4A-227	0			c.G1284A						.						146.0	140.0	142.0					1																	44134891		2203	4300	6503	SO:0001819	synonymous_variant	9682	exon10			GATGACGGAGTGC	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1284G>A	1.37:g.44134891G>A		210	1		305	65	NM_014663	0	0	0	0	0	Q5VVB1	Silent	SNP	ENST00000372396.3	37	CCDS491.1																																																																																			.		0.542	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663	
FOXD2	2306	hgsc.bcm.edu	37	1	47904909	47904909	+	Missense_Mutation	SNP	G	G	C	rs2405913	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:47904909G>C	ENST00000334793.5	+	1	3221	c.1102G>C	c.(1102-1104)Gcg>Ccg	p.A368P		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	368	Ala-rich.|Gly-rich.		A -> P (in dbSNP:rs2405913). {ECO:0000269|PubMed:9403061}.		transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		AGCCTTCTACGCGGCGTCCCT	0.776													C|||	5006	0.999601	0.9985	1.0	5008	,	,		8227	1.0		1.0	False		,,,				2504	1.0				p.A368P		.											.	FOXD2-226	0			c.G1102C						.						2.0	3.0	2.0					1																	47904909		1345	2971	4316	SO:0001583	missense	2306	exon1			TTCTACGCGGCGT	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"""Forkhead boxes"""	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.1102G>C	1.37:g.47904909G>C	ENSP00000335493:p.Ala368Pro	0	0		4	4	NM_004474	0	0	0	0	0	Q5SVZ3	Missense_Mutation	SNP	ENST00000334793.5	37	CCDS30708.1	2181	0.9986263736263736	489	0.9939024390243902	362	1.0	572	1.0	758	1.0	C	0.800	-0.755720	0.03019	.	.	ENSG00000186564	ENST00000334793	D	0.93547	-3.24	4.4	3.48	0.39840	.	.	.	.	.	T	0.00012	0.0000	N	0.00210	-1.845	0.54753	P	1.7000000000044757E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.42515	-0.9447	8	0.02654	T	1	.	4.1889	0.10411	0.1624:0.5916:0.1573:0.0887	rs2405913;rs2405913	368	O60548	FOXD2_HUMAN	P	368	ENSP00000335493:A368P	ENSP00000335493:A368P	A	+	1	0	FOXD2	47677496	0.000000	0.05858	0.905000	0.35620	0.496000	0.33645	0.098000	0.15189	0.309000	0.22966	-0.978000	0.02582	GCG	G|0.835;C|0.165		0.776	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1	NM_004474	
ADAMTSL4	54507	bcgsc.ca	37	1	150526044	150526044	+	Missense_Mutation	SNP	G	G	C	rs41317515	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:150526044G>C	ENST00000369038.2	+	4	778	c.577G>C	c.(577-579)Gct>Cct	p.A193P	MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.A193P|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.A193P|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.A193P			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	193			A -> P (in dbSNP:rs41317515). {ECO:0000269|PubMed:15489334}.		apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	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;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AGGGGAAGAGGCTATTCCGTC	0.607													C|||	2646	0.528355	0.6074	0.4337	5008	,	,		15288	0.5675		0.5338	False		,,,				2504	0.4427				p.A193P		.											.	ADAMTSL4-92	0			c.G577C						.	C	PRO/ALA,PRO/ALA	2600,1806	530.3+/-372.9	787,1026,390	118.0	115.0	116.0		577,577	-4.6	0.0	1	dbSNP_127	116	4515,4085	561.1+/-387.7	1178,2159,963	yes	missense,missense	ADAMTSL4	NM_019032.4,NM_025008.3	27,27	1965,3185,1353	CC,CG,GG		47.5,40.9896,45.2945	benign,benign	193/1075,193/878	150526044	7115,5891	2203	4300	6503	SO:0001583	missense	54507	exon6			GAAGAGGCTATTC	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.577G>C	1.37:g.150526044G>C	ENSP00000358034:p.Ala193Pro	123	0		186	8	NM_019032	0	0	0	0	0	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	CCDS955.1	1217	0.5572344322344323	295	0.5995934959349594	177	0.4889502762430939	319	0.5576923076923077	426	0.5620052770448549	C	0.516	-0.864147	0.02590	0.590104	0.525	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.63255	0.05;-0.03;0.23;-0.03	3.65	-4.57	0.03421	.	.	.	.	.	T	0.12603	0.0306	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.11641	-1.0579	8	0.28530	T	0.3	.	3.1698	0.06549	0.1886:0.2054:0.4843:0.1217	rs41317515;rs59910312;rs61819441	193;193;193	F8WAD0;Q6UY14;Q6UY14-2	.;ATL4_HUMAN;.	P	193	ENSP00000358037:A193P;ENSP00000271643:A193P;ENSP00000358035:A193P;ENSP00000358034:A193P	ENSP00000271643:A193P	A	+	1	0	ADAMTSL4	148792668	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.494000	0.02296	-1.085000	0.03088	-1.087000	0.02190	GCT	G|0.456;C|0.544		0.607	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032	
FLG	2312	bcgsc.ca	37	1	152280782	152280782	+	Missense_Mutation	SNP	A	A	G	rs2184953	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:152280782A>G	ENST00000368799.1	-	3	6615	c.6580T>C	c.(6580-6582)Tat>Cat	p.Y2194H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2194	Ser-rich.		Y -> H (in dbSNP:rs2184953).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTTGTCATATGTTTTTCTG	0.547									Ichthyosis				-|||	2703	0.539736	0.7897	0.4683	5008	,	,		29126	0.6607		0.1759	False		,,,				2504	0.502				p.Y2194H		.											.	FLG-106	0			c.T6580C						.						483.0	407.0	432.0					1																	152280782		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGTCATATGTTTT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6580T>C	1.37:g.152280782A>G	ENSP00000357789:p.Tyr2194His	219	2		241	9	NM_002016	0	0	0	0	0	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	1006	0.4606227106227106	366	0.7439024390243902	142	0.39226519337016574	362	0.6328671328671329	136	0.17941952506596306	g	2.593	-0.294672	0.05568	.	.	ENSG00000143631	ENST00000368799	T	0.01665	4.7	2.99	-5.98	0.02220	.	.	.	.	.	T	0.00241	0.0007	N	0.02011	-0.69	0.80722	P	0.0	B	0.10296	0.003	B	0.04013	0.001	T	0.45673	-0.9245	8	0.45353	T	0.12	.	4.3415	0.11112	0.287:0.0:0.31:0.403	rs2184953;rs2184953	2194	P20930	FILA_HUMAN	H	2194	ENSP00000357789:Y2194H	ENSP00000357789:Y2194H	Y	-	1	0	FLG	150547406	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.749000	0.00793	-2.890000	0.00315	-2.627000	0.00155	TAT	A|0.532;G|0.468		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
LOR	4014	hgsc.bcm.edu	37	1	153233701	153233701	+	Silent	SNP	A	A	C	rs1143390	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:153233701A>C	ENST00000368742.3	+	2	333	c.276A>C	c.(274-276)ggA>ggC	p.G92G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	92					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTACTCcggaggcggcggct	0.786													a|||	1994	0.398163	0.416	0.3703	5008	,	,		4732	0.3562		0.3797	False		,,,				2504	0.456				p.G92G		.											.	LOR-90	0			c.A276C						.						1.0	1.0	1.0					1																	153233701		392	1110	1502	SO:0001819	synonymous_variant	4014	exon2			CTCCGGAGGCGGC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.276A>C	1.37:g.153233701A>C		0	0		5	5	NM_000427	0	0	0	0	0	Q5T869|Q5XKF8	Silent	SNP	ENST00000368742.3	37	CCDS30870.1																																																																																			A|0.594;C|0.406		0.786	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039107.1	NM_000427	
GATAD2B	57459	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	153800736	153800736	+	Nonsense_Mutation	SNP	T	T	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:153800736T>A	ENST00000368655.4	-	2	331	c.88A>T	c.(88-90)Aag>Tag	p.K30*		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	30					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTGAGTCGCTTTGCCAGGACA	0.473																																					p.K30X		.											.	GATAD2B-90	0			c.A88T						.						154.0	145.0	148.0					1																	153800736		2203	4300	6503	SO:0001587	stop_gained	57459	exon2			GTCGCTTTGCCAG	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.88A>T	1.37:g.153800736T>A	ENSP00000357644:p.Lys30*	25	0		51	17	NM_020699	0	0	0	0	0	D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Nonsense_Mutation	SNP	ENST00000368655.4	37	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	T	37	6.571382	0.97671	.	.	ENSG00000143614	ENST00000368655	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.3192	15.5757	0.76380	0.0:0.0:0.0:1.0	.	.	.	.	X	30	.	ENSP00000357644:K30X	K	-	1	0	GATAD2B	152067360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.616000	0.83018	2.320000	0.78422	0.528000	0.53228	AAG	.		0.473	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699	
NUP210L	91181	hgsc.bcm.edu	37	1	154067601	154067601	+	Missense_Mutation	SNP	G	G	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:154067601G>T	ENST00000368559.3	-	15	2068	c.1997C>A	c.(1996-1998)aCa>aAa	p.T666K	NUP210L_ENST00000271854.3_Missense_Mutation_p.T666K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	666					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGACTGCCATGTCACCAATGC	0.403																																					p.T666K		.											.	NUP210L-77	0			c.C1997A						.						77.0	73.0	74.0					1																	154067601		1844	4084	5928	SO:0001583	missense	91181	exon15			TGCCATGTCACCA	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1997C>A	1.37:g.154067601G>T	ENSP00000357547:p.Thr666Lys	36	0		56	4	NM_001159484	0	0	0	0	0	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600544	0.87055	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.23348	1.91;1.91	5.63	5.63	0.86233	.	0.095453	0.45867	D	0.000321	T	0.40222	0.1108	M	0.67397	2.05	0.38505	D	0.948312	D;D	0.69078	0.997;0.995	P;P	0.61874	0.895;0.82	T	0.28073	-1.0055	10	0.72032	D	0.01	-5.1911	17.4736	0.87653	0.0:0.0:1.0:0.0	.	666;666	E7EP56;Q5VU65	.;P210L_HUMAN	K	666	ENSP00000357547:T666K;ENSP00000271854:T666K	ENSP00000271854:T666K	T	-	2	0	NUP210L	152334225	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.870000	0.69620	2.657000	0.90304	0.555000	0.69702	ACA	.		0.403	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	
CADM3	57863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	159170626	159170626	+	Missense_Mutation	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:159170626G>A	ENST00000368125.4	+	9	1268	c.1111G>A	c.(1111-1113)Gac>Aac	p.D371N	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.D405N|CADM3_ENST00000497636.1_3'UTR|DARC_ENST00000537147.1_5'Flank|CTA-134P22.2_ENST00000609696.1_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	371					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.D405N(1)|p.D405H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AAAAGGCTCCGACGATGCTCC	0.572																																					p.D405N		.											.	CADM3-92	2	Substitution - Missense(2)	lung(1)|breast(1)	c.G1213A						.						94.0	87.0	90.0					1																	159170626		2203	4300	6503	SO:0001583	missense	57863	exon10			GGCTCCGACGATG	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.1111G>A	1.37:g.159170626G>A	ENSP00000357107:p.Asp371Asn	343	0		392	114	NM_021189	0	0	0	0	0	Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422049	0.62622	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	T;T	0.56776	0.44;0.45	3.81	3.81	0.43845	.	0.000000	0.64402	D	0.000001	T	0.66137	0.2759	M	0.83603	2.65	0.58432	D	0.999999	D;B	0.89917	1.0;0.14	D;B	0.71414	0.973;0.013	T	0.71813	-0.4479	10	0.59425	D	0.04	.	13.2211	0.59887	0.0:0.0:1.0:0.0	.	371;405	Q8N126;Q8N126-2	CADM3_HUMAN;.	N	405;371	ENSP00000357106:D405N;ENSP00000357107:D371N	ENSP00000357106:D405N	D	+	1	0	CADM3	157437250	1.000000	0.71417	0.976000	0.42696	0.857000	0.48899	7.173000	0.77612	1.965000	0.57142	0.591000	0.81541	GAC	.		0.572	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189	
DUSP27	92235	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	167095939	167095939	+	Missense_Mutation	SNP	G	G	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:167095939G>C	ENST00000361200.2	+	6	1737	c.1571G>C	c.(1570-1572)gGc>gCc	p.G524A	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.G524A|DUSP27_ENST00000271385.5_Missense_Mutation_p.G524A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	524					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GACAGCGTGGGCTCTGAGGCC	0.557																																					p.G524A		.											.	DUSP27-71	0			c.G1571C						.						81.0	76.0	77.0					1																	167095939		2203	4300	6503	SO:0001583	missense	92235	exon5			GCGTGGGCTCTGA	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1571G>C	1.37:g.167095939G>C	ENSP00000354483:p.Gly524Ala	397	0		477	28	NM_001080426	0	0	0	0	0	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.076859	0.00035	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.02737	4.18;4.18;4.18	5.09	0.923	0.19413	.	1.797320	0.03056	N	0.155306	T	0.00300	0.0009	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40040	-0.9584	10	0.02654	T	1	-0.0025	5.0098	0.14306	0.0:0.2868:0.3321:0.3812	.	524	Q5VZP5	DUS27_HUMAN	A	524	ENSP00000354483:G524A;ENSP00000271385:G524A;ENSP00000404874:G524A	ENSP00000271385:G524A	G	+	2	0	DUSP27	165362563	0.026000	0.19158	0.011000	0.14972	0.189000	0.23516	0.874000	0.28065	-0.096000	0.12329	-0.196000	0.12772	GGC	.		0.557	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426	
TNR	7143	broad.mit.edu	37	1	175375841	175375841	+	Missense_Mutation	SNP	C	C	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:175375841C>G	ENST00000367674.2	-	3	718	c.10G>C	c.(10-12)Gat>Cat	p.D4H	TNR_ENST00000263525.2_Missense_Mutation_p.D4H			Q92752	TENR_HUMAN	tenascin R	4					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTTTCCCCATCTGCCCCCATC	0.532																																					p.D4H		.											.	TNR-324	0			c.G10C						.						108.0	102.0	104.0					1																	175375841		2203	4300	6503	SO:0001583	missense	7143	exon3			CCCCATCTGCCCC	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.10G>C	1.37:g.175375841C>G	ENSP00000356646:p.Asp4His	100	0		113	4	NM_003285	0	0	0	0	0	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196899	0.58126	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.27557	1.66;1.66	5.56	5.56	0.83823	.	0.356365	0.29791	N	0.011182	T	0.36110	0.0955	L	0.27053	0.805	0.46499	D	0.99907	D;P	0.58620	0.983;0.778	P;B	0.51487	0.671;0.299	T	0.16070	-1.0415	10	0.87932	D	0	.	19.1256	0.93382	0.0:1.0:0.0:0.0	.	4;4	B4DIX8;Q92752	.;TENR_HUMAN	H	4	ENSP00000356646:D4H;ENSP00000263525:D4H	ENSP00000263525:D4H	D	-	1	0	TNR	173642464	0.996000	0.38824	0.397000	0.26308	0.997000	0.91878	3.983000	0.56916	2.609000	0.88269	0.561000	0.74099	GAT	.		0.532	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
IER5	51278	hgsc.bcm.edu	37	1	181058313	181058313	+	Missense_Mutation	SNP	G	G	A	rs3747955	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:181058313G>A	ENST00000367577.4	+	1	676	c.275G>A	c.(274-276)cGt>cAt	p.R92H	RP11-309G3.3_ENST00000606938.1_lincRNA	NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	92			R -> H (in dbSNP:rs3747955). {ECO:0000269|PubMed:15498874}.							lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						cccgccgcTCGTGCCTCTTGG	0.801													G|||	2220	0.443291	0.2489	0.4452	5008	,	,		6443	0.6002		0.3777	False		,,,				2504	0.6104				p.R92H		.											.	IER5-227	0			c.G275A						.	G	HIS/ARG	975,3037		142,691,1173	5.0	6.0	6.0		275	-1.2	0.0	1	dbSNP_107	6	2425,5403		398,1629,1887	no	missense	IER5	NM_016545.4	29	540,2320,3060	AA,AG,GG		30.9785,24.3021,28.7162	benign	92/328	181058313	3400,8440	2006	3914	5920	SO:0001583	missense	51278	exon1			CCGCTCGTGCCTC	BC000128	CCDS1343.1	1q25.3	2008-02-05			ENSG00000162783	ENSG00000162783			5393	protein-coding gene	gene with protein product		607177				10049588, 11102586	Standard	NM_016545		Approved		uc001got.4	Q5VY09	OTTHUMG00000035178	ENST00000367577.4:c.275G>A	1.37:g.181058313G>A	ENSP00000356549:p.Arg92His	0	0		20	20	NM_016545	0	0	0	0	0	B2RBV3|Q8WY68|Q9NY49|Q9NZP9	Missense_Mutation	SNP	ENST00000367577.4	37	CCDS1343.1	943	0.4317765567765568	134	0.27235772357723576	158	0.43646408839779005	358	0.6258741258741258	293	0.3865435356200528	G	2.870	-0.234111	0.05983	0.243021	0.309785	ENSG00000162783	ENST00000367577;ENST00000545568	T	0.10668	2.85	3.62	-1.18	0.09617	.	0.978663	0.08289	U	0.968738	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	B	0.15719	0.014	B	0.14578	0.011	T	0.36407	-0.9749	9	0.15066	T	0.55	.	7.4605	0.27291	0.1106:0.5642:0.3252:0.0	rs3747955	92	Q5VY09	IER5_HUMAN	H	92	ENSP00000356549:R92H	ENSP00000356549:R92H	R	+	2	0	IER5	179324936	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.173000	0.16724	-0.337000	0.08426	0.297000	0.19635	CGT	G|0.568;A|0.432		0.801	IER5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085142.1	NM_016545	
RGSL1	353299	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	182525184	182525184	+	Missense_Mutation	SNP	G	G	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:182525184G>C	ENST00000294854.8	+	21	3243	c.3223G>C	c.(3223-3225)Gag>Cag	p.E1075Q		NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1	1075					termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)				central_nervous_system(2)|skin(4)	6						CATCAAAAAAGAGAAGTAATC	0.393																																					p.E1075Q	Ovarian(71;11 616 11292 12944 18021 32289 33994 41738 46526)	.											.	RGSL1-226	0			c.G3223C						.						126.0	110.0	115.0					1																	182525184		692	1591	2283	SO:0001583	missense	353299	exon21			AAAAAAGAGAAGT	AF510428	CCDS58049.1	1q25	2013-04-02	2007-08-14		ENSG00000121446	ENSG00000121446			18636	protein-coding gene	gene with protein product		611012	"""regulator of G-protein signalling like 1"", ""regulator of G-protein signaling like 2"", ""regulator of G-protein signalling like 2"""	RGSL2		12801632	Standard	NM_001137669		Approved		uc009wxw.3	A5PLK6	OTTHUMG00000035217	ENST00000294854.8:c.3223G>C	1.37:g.182525184G>C	ENSP00000457748:p.Glu1075Gln	145	0		136	36	NM_001137669	0	0	0	0	0	A2A2Z0|A6PVM2|A6PVM3|Q0VAJ4|Q0VAJ5|Q6ZRL0|Q86UV0|Q9H084	Missense_Mutation	SNP	ENST00000294854.8	37	CCDS58049.1																																																																																			.		0.393	RGSL1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320710.3	NM_181572	
SLC26A9	115019	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	205890762	205890762	+	Missense_Mutation	SNP	G	G	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:205890762G>T	ENST00000367135.3	-	17	2100	c.1987C>A	c.(1987-1989)Cac>Aac	p.H663N	SLC26A9_ENST00000367134.2_Missense_Mutation_p.H663N|SLC26A9_ENST00000340781.4_Missense_Mutation_p.H663N	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	663	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			ATGAGGGTGTGGAAGGTGACG	0.642																																					p.H663N		.											.	SLC26A9-92	0			c.C1987A						.						49.0	39.0	42.0					1																	205890762		2203	4300	6503	SO:0001583	missense	115019	exon17			GGGTGTGGAAGGT	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1987C>A	1.37:g.205890762G>T	ENSP00000356103:p.His663Asn	62	0		85	26	NM_052934	0	0	0	0	0	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315908	0.81469	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.88431	-2.38;-2.38;-2.38	4.9	4.9	0.64082	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.114329	0.56097	D	0.000027	D	0.94598	0.8259	M	0.80422	2.495	0.54753	D	0.999981	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.992	D	0.95274	0.8380	10	0.87932	D	0	.	18.0403	0.89317	0.0:0.0:1.0:0.0	.	663;663	Q7LBE3;B1AVM8	S26A9_HUMAN;.	N	663	ENSP00000341682:H663N;ENSP00000356103:H663N;ENSP00000356102:H663N	ENSP00000341682:H663N	H	-	1	0	SLC26A9	204157385	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	9.064000	0.93933	2.429000	0.82318	0.655000	0.94253	CAC	.		0.642	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934	
KCTD3	51133	hgsc.bcm.edu	37	1	215741053	215741053	+	Missense_Mutation	SNP	T	T	G	rs2275768	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:215741053T>G	ENST00000259154.4	+	1	319	c.25T>G	c.(25-27)Ttc>Gtc	p.F9V		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	9			F -> V (in dbSNP:rs2275768). {ECO:0000269|PubMed:15489334}.		protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CTGCGGCAGCTTCCCCGCGGC	0.761													T|||	1459	0.291334	0.0605	0.2291	5008	,	,		8959	0.4276		0.2853	False		,,,				2504	0.5133				p.F9V		.											.	KCTD3-93	0			c.T25G						.	T	VAL/PHE	232,2814		17,198,1308	3.0	5.0	5.0		25	1.6	0.8	1	dbSNP_100	5	1189,4951		136,917,2017	no	missense	KCTD3	NM_016121.3	50	153,1115,3325	GG,GT,TT		19.3648,7.6165,15.4692	benign	9/816	215741053	1421,7765	1523	3070	4593	SO:0001583	missense	51133	exon1			GGCAGCTTCCCCG	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.25T>G	1.37:g.215741053T>G	ENSP00000259154:p.Phe9Val	2	0		57	14	NM_016121	0	0	0	0	0	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	CCDS1515.1	595	0.2724358974358974	34	0.06910569105691057	93	0.2569060773480663	249	0.4353146853146853	219	0.28891820580474936	T	10.24	1.294537	0.23564	0.076165	0.193648	ENSG00000136636	ENST00000259154;ENST00000366945	T	0.36520	1.25	2.8	1.63	0.23807	.	0.611401	0.14267	U	0.330439	T	0.00012	0.0000	L	0.27053	0.805	0.50813	P	1.0900000000002574E-4	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.001	T	0.48115	-0.9063	9	0.23891	T	0.37	-7.5445	6.7109	0.23276	0.0:0.2267:0.0:0.7733	rs2275768;rs17845401;rs17858259	9;9	Q9Y597-2;Q9Y597	.;KCTD3_HUMAN	V	9	ENSP00000259154:F9V	ENSP00000259154:F9V	F	+	1	0	KCTD3	213807676	0.045000	0.20229	0.833000	0.33012	0.447000	0.32167	0.628000	0.24522	0.293000	0.22520	0.254000	0.18369	TTC	T|0.721;G|0.279		0.761	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121	
TGFB2	7042	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	218609421	218609421	+	Silent	SNP	C	C	G	rs373646036		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:218609421C>G	ENST00000366930.4	+	5	1331	c.864C>G	c.(862-864)tcC>tcG	p.S288S	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366929.4_Silent_p.S316S	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	288					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TATTGCCCTCCTACAGACTTG	0.443																																					p.S316S		.											.	TGFB2-710	0			c.C948G						.	C	,	0,4406		0,0,2203	93.0	87.0	89.0		948,864	6.2	1.0	1		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TGFB2	NM_001135599.2,NM_003238.3	,	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	,	316/443,288/415	218609421	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7042	exon6			GCCCTCCTACAGA	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.864C>G	1.37:g.218609421C>G		317	0		291	36	NM_001135599	0	0	0	0	0	B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	CCDS1521.1																																																																																			.		0.443	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238	
LBR	3930	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	225600179	225600179	+	Missense_Mutation	SNP	T	T	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:225600179T>C	ENST00000338179.2	-	8	1186	c.1061A>G	c.(1060-1062)aAt>aGt	p.N354S	LBR_ENST00000272163.4_Missense_Mutation_p.N354S|AC092811.1_ENST00000366845.2_5'Flank	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	354					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		CGACAGGTCATTCCGGGGCGC	0.488																																					p.N354S		.											.	LBR-228	0			c.A1061G						.						72.0	73.0	73.0					1																	225600179		2203	4300	6503	SO:0001583	missense	3930	exon8			AGGTCATTCCGGG	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1061A>G	1.37:g.225600179T>C	ENSP00000339883:p.Asn354Ser	280	1		289	53	NM_194442	0	0	0	0	0	B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	T	7.997	0.754602	0.15778	.	.	ENSG00000143815	ENST00000272163;ENST00000338179	D;D	0.97870	-4.58;-4.58	6.06	-0.655	0.11439	.	1.033990	0.07598	N	0.923230	D	0.87877	0.6288	N	0.01202	-0.96	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.82131	-0.0609	10	0.08837	T	0.75	-0.5481	5.2239	0.15383	0.0:0.2146:0.2583:0.5271	.	354	Q14739	LBR_HUMAN	S	354	ENSP00000272163:N354S;ENSP00000339883:N354S	ENSP00000272163:N354S	N	-	2	0	LBR	223666802	0.023000	0.18921	0.000000	0.03702	0.188000	0.23474	1.763000	0.38461	-0.349000	0.08274	-0.417000	0.06048	AAT	.		0.488	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296	
H3F3A	3020	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	226253533	226253533	+	Intron	SNP	T	T	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:226253533T>G	ENST00000366813.1	+	2	657				H3F3A_ENST00000366815.3_Intron|H3F3A_ENST00000366816.1_Intron|H3F3A_ENST00000366814.3_Missense_Mutation_p.L102R			P84243	H33_HUMAN	H3 histone, family 3A						blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		GTGGGAAGACTCAGAGTTTGT	0.438			Mis		glioma																																.		.		Dom	yes		1	1q42.12	3020	"""H3 histone, family 3A"""		O	.	.	0			.						.						8.0	7.0	8.0					1																	226253533		2189	4212	6401	SO:0001627	intron_variant	440926	.			GAAGACTCAGAGT	BC029405	CCDS1550.1	1q42.12	2011-01-27			ENSG00000163041	ENSG00000163041		"""Histones / Replication-independent"""	4764	protein-coding gene	gene with protein product		601128		H3F3		3031613	Standard	NM_002107		Approved	H3.3A	uc001hpw.3	P84243	OTTHUMG00000037507	ENST00000366813.1:c.282+23T>G	1.37:g.226253533T>G		174	0		231	64	.	0	0	0	0	0	P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	RNA	SNP	ENST00000366813.1	37	CCDS1550.1	.	.	.	.	.	.	.	.	.	.	T	6.900	0.535646	0.13188	.	.	ENSG00000163041	ENST00000366814	T	0.35973	1.28	3.54	0.366	0.16136	.	.	.	.	.	T	0.19725	0.0474	.	.	.	0.09310	N	1	B	0.29716	0.255	B	0.27796	0.083	T	0.21075	-1.0256	7	.	.	.	.	5.3197	0.15874	0.0:0.3827:0.0:0.6173	.	102	B4DEB1	.	R	102	ENSP00000355779:L102R	.	L	+	2	0	H3F3A	224320156	0.008000	0.16893	0.000000	0.03702	0.103000	0.19146	0.024000	0.13555	0.055000	0.16094	0.454000	0.30748	CTC	.		0.438	H3F3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091324.1	NM_002107	
GJC2	57165	hgsc.bcm.edu	37	1	228346053	228346053	+	Silent	SNP	C	C	T	rs116557768	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:228346053C>T	ENST00000366714.2	+	2	769	c.594C>T	c.(592-594)caC>caT	p.H198H		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	198					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				CCGGGCAACACGATGGGCGGA	0.731													.|||	80	0.0159744	0.0015	0.013	5008	,	,		5629	0.0		0.0328	False		,,,				2504	0.0368				p.H198H		.											.	GJC2-68	0			c.C594T						.	C		46,4328		2,42,2143	13.0	16.0	15.0		594	-2.0	0.6	1	dbSNP_132	15	341,8201		6,329,3936	no	coding-synonymous	GJC2	NM_020435.3		8,371,6079	TT,TC,CC		3.992,1.0517,2.9963		198/440	228346053	387,12529	2187	4271	6458	SO:0001819	synonymous_variant	57165	exon2			GCAACACGATGGG	AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"""Ion channels / Gap junction proteins (connexins)"""	17494	protein-coding gene	gene with protein product	"""connexin 47"""	608803	"""gap junction protein, alpha 12, 47kDa"""	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.594C>T	1.37:g.228346053C>T		1	0		73	49	NM_020435	0	0	0	0	0	O43440|Q7Z7J2|Q8IWJ9	Silent	SNP	ENST00000366714.2	37	CCDS1569.1																																																																																			C|0.986;T|0.014		0.731	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	NM_020435	
GPRIN2	9721	ucsc.edu	37	10	46999601	46999601	+	Missense_Mutation	SNP	G	G	A	rs9422022	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr10:46999601G>A	ENST00000374317.1	+	3	994	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	GPRIN2_ENST00000374314.4_Missense_Mutation_p.V241M	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	241			V -> M (in dbSNP:rs9422022).	VR -> MREVG (in Ref. 1; BAA25440 and 3; AAH11672). {ECO:0000305}.						breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CATGAGGGAGGTGAGGGCTGG	0.632													G|||	32	0.00638978	0.0023	0.0014	5008	,	,		31210	0.0139		0.0109	False		,,,				2504	0.0031				p.V241M		.											.	GPRIN2-90	0			c.G721A						.						51.0	53.0	53.0					10																	46999601		2203	4299	6502	SO:0001583	missense	9721	exon3			AGGGAGGTGAGGG	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.721G>A	10.37:g.46999601G>A	ENSP00000363436:p.Val241Met	95	0		137	20	NM_014696	0	0	0	0	0	Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	CCDS31192.1	786	0.3598901098901099	179	0.3638211382113821	126	0.34806629834254144	219	0.38286713286713286	262	0.34564643799472294	G	3.183	-0.167470	0.06461	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03496	3.91;3.91	5.12	-1.64	0.08318	.	1.524420	0.04254	N	0.339078	T	0.00012	0.0000	L	0.34521	1.04	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.46978	-0.9152	10	0.27082	T	0.32	0.3266	1.758	0.02986	0.326:0.1295:0.4122:0.1323	rs9422022	241	O60269	GRIN2_HUMAN	M	241	ENSP00000363436:V241M;ENSP00000363433:V241M	ENSP00000363433:V241M	V	+	1	0	GPRIN2	46419607	0.099000	0.21834	0.004000	0.12327	0.003000	0.03518	0.140000	0.16056	-0.217000	0.10033	-0.498000	0.04607	GTG	G|0.639;A|0.361		0.632	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696	
GPRIN2	9721	hgsc.bcm.edu	37	10	47000217	47000217	+	Missense_Mutation	SNP	G	G	A	rs72780221	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr10:47000217G>A	ENST00000374317.1	+	3	1610	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H	GPRIN2_ENST00000374314.4_Missense_Mutation_p.R446H	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	446								p.R446H(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCCCTGCGGCGCCCCAGCTGC	0.716																																					p.R446H		.											.	GPRIN2-90	1	Substitution - Missense(1)	prostate(1)	c.G1337A						.						8.0	9.0	9.0					10																	47000217		2121	4098	6219	SO:0001583	missense	9721	exon3			TGCGGCGCCCCAG	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1337G>A	10.37:g.47000217G>A	ENSP00000363436:p.Arg446His	0	0		35	10	NM_014696	0	0	0	0	0	Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	CCDS31192.1	220	0.10073260073260074	86	0.17479674796747968	30	0.08287292817679558	25	0.043706293706293704	79	0.10422163588390501	G	13.52	2.261176	0.39995	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.26223	1.75;1.75	5.11	3.2	0.36748	.	0.744361	0.10758	N	0.637492	T	0.00073	0.0002	L	0.49350	1.555	0.09310	N	1	B	0.24533	0.105	B	0.17433	0.018	T	0.22243	-1.0222	10	0.34782	T	0.22	-0.7153	5.5226	0.16941	0.1777:0.1655:0.6568:0.0	.	446	O60269	GRIN2_HUMAN	H	446	ENSP00000363436:R446H;ENSP00000363433:R446H	ENSP00000363433:R446H	R	+	2	0	GPRIN2	46420223	0.000000	0.05858	0.420000	0.26596	0.986000	0.74619	0.143000	0.16115	0.639000	0.30564	0.561000	0.74099	CGC	G|0.901;A|0.099		0.716	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696	
ARHGAP22	58504	hgsc.bcm.edu	37	10	49659006	49659006	+	Missense_Mutation	SNP	G	G	A	rs80345791	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr10:49659006G>A	ENST00000249601.4	-	9	1462	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L	ARHGAP22_ENST00000417247.2_Missense_Mutation_p.P299L|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.P230L|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.P395L|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.P405L|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.P222L|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.P280L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	389					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGTGCGCGGGCAGGCCGGG	0.761													G|||	40	0.00798722	0.0008	0.0115	5008	,	,		12686	0.0		0.0288	False		,,,				2504	0.002				p.P405L		.											.	ARHGAP22-228	0			c.C1214T						.	G	LEU/PRO	9,4077		0,9,2034	5.0	6.0	6.0		1166	4.3	0.5	10	dbSNP_131	6	110,7946		2,106,3920	no	missense	ARHGAP22	NM_021226.2	98	2,115,5954	AA,AG,GG		1.3654,0.2203,0.9801	benign	389/699	49659006	119,12023	2043	4028	6071	SO:0001583	missense	58504	exon9			TGCGCGGGCAGGC	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.1166C>T	10.37:g.49659006G>A	ENSP00000249601:p.Pro389Leu	1	0		34	14	NM_001256024	0	0	0	0	0	A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	CCDS7227.1	29	0.013278388278388278	0	0.0	7	0.019337016574585635	0	0.0	22	0.029023746701846966	G	8.393	0.840164	0.16891	0.002203	0.013654	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000477708;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T;T;T	0.26518	2.87;2.54;1.73;2.13;2.53;2.83;2.88	5.2	4.3	0.51218	.	0.373141	0.31123	N	0.008203	T	0.10809	0.0264	M	0.72894	2.215	0.18873	N	0.999982	B;B;B;B;B;B	0.29188	0.001;0.001;0.037;0.002;0.002;0.236	B;B;B;B;B;B	0.30251	0.003;0.004;0.024;0.004;0.007;0.113	T	0.07501	-1.0769	10	0.35671	T	0.21	.	10.957	0.47364	0.0867:0.0:0.9133:0.0	.	395;389;405;389;299;222	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3;D6R9V6	.;.;.;RHG22_HUMAN;.;.	L	389;280;230;222;299;395;405	ENSP00000249601:P389L;ENSP00000363287:P280L;ENSP00000363285:P230L;ENSP00000422868:P222L;ENSP00000410054:P299L;ENSP00000416701:P395L;ENSP00000412461:P405L	ENSP00000249601:P389L	P	-	2	0	ARHGAP22	49329012	0.179000	0.23135	0.481000	0.27354	0.053000	0.15095	1.605000	0.36815	1.204000	0.43247	0.313000	0.20887	CCC	G|0.987;A|0.013		0.761	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226	
PCDH15	65217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	55582342	55582342	+	Missense_Mutation	SNP	C	C	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr10:55582342C>A	ENST00000320301.6	-	33	5538	c.5144G>T	c.(5143-5145)aGa>aTa	p.R1715I	PCDH15_ENST00000395430.1_Missense_Mutation_p.R1712I|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1717I|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1646I|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1675I|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1692I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1715					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.R1722K(1)|p.R1715K(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGGTGTCTCTCTCCTAGAGAG	0.413										HNSCC(58;0.16)																											p.R1722I		.											.	PCDH15-193	2	Substitution - Missense(2)	skin(2)	c.G5165T						.						77.0	77.0	77.0					10																	55582342		2203	4299	6502	SO:0001583	missense	65217	exon35			GTCTCTCTCCTAG	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5144G>T	10.37:g.55582342C>A	ENSP00000322604:p.Arg1715Ile	89	0		43	11	NM_001142763	0	0	0	0	0	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.008031	0.54361	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.57907	0.4;0.37;0.42;0.38;0.38;0.37	4.99	0.552	0.17230	.	.	.	.	.	T	0.48786	0.1519	L	0.29908	0.895	0.09310	N	1	B;P;P;P;D;P;P;P	0.56968	0.029;0.731;0.731;0.731;0.978;0.731;0.859;0.731	B;P;P;P;P;P;P;P	0.56788	0.02;0.451;0.451;0.451;0.806;0.451;0.451;0.451	T	0.35301	-0.9794	9	0.87932	D	0	.	3.8892	0.09111	0.2656:0.3257:0.0:0.4087	.	1692;1715;1717;1722;1646;1675;1712;1715	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	I	1675;1717;1692;1715;1712;1722;1646	ENSP00000378820:R1675I;ENSP00000354950:R1717I;ENSP00000378821:R1692I;ENSP00000322604:R1715I;ENSP00000378818:R1712I;ENSP00000412628:R1646I	ENSP00000322604:R1715I	R	-	2	0	PCDH15	55252348	0.917000	0.31117	0.006000	0.13384	0.031000	0.12232	0.371000	0.20450	0.165000	0.19558	0.655000	0.94253	AGA	.		0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
SPOCK2	9806	hgsc.bcm.edu	37	10	73848075	73848075	+	Silent	SNP	C	C	T	rs2306324	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr10:73848075C>T	ENST00000373109.2	-	1	456	c.12G>A	c.(10-12)ccG>ccA	p.P4P	SPOCK2_ENST00000536168.1_Silent_p.P4P|SPOCK2_ENST00000412663.1_Silent_p.P4P|SPOCK2_ENST00000317376.4_Silent_p.P4P	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	4					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCCCGCAGCCCGGGGCGCGCA	0.697													C|||	722	0.144169	0.2201	0.1585	5008	,	,		11692	0.1438		0.0437	False		,,,				2504	0.135				p.P4P		.											.	SPOCK2-90	0			c.G12A						.	C	,	759,3439		58,643,1398	6.0	8.0	7.0		12,12	0.9	0.9	10	dbSNP_100	7	414,7646		9,396,3625	yes	coding-synonymous,coding-synonymous	SPOCK2	NM_001134434.1,NM_014767.2	,	67,1039,5023	TT,TC,CC		5.1365,18.08,9.5693	,	4/78,4/425	73848075	1173,11085	2099	4030	6129	SO:0001819	synonymous_variant	9806	exon2			GCAGCCCGGGGCG	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.12G>A	10.37:g.73848075C>T		0	0		10	5	NM_001134434	0	0	0	0	0	C9J767|Q6UW87	Silent	SNP	ENST00000373109.2	37	CCDS7313.1																																																																																			C|0.870;T|0.130		0.697	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2		
OIT3	170392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	74684374	74684374	+	Missense_Mutation	SNP	G	G	A	rs139078371		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr10:74684374G>A	ENST00000334011.5	+	7	1557	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	447	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GATCGACGAGGTCCTGAAATA	0.552																																					p.V447I	Colon(7;19 345 13446 17537)	.											.	OIT3-70	0			c.G1339A						.	G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	60.0	52.0	55.0		1339	3.3	1.0	10	dbSNP_134	55	0,8600		0,0,4300	no	missense	OIT3	NM_152635.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	447/546	74684374	1,13005	2203	4300	6503	SO:0001583	missense	170392	exon7			GACGAGGTCCTGA		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1339G>A	10.37:g.74684374G>A	ENSP00000333900:p.Val447Ile	152	0		214	40	NM_152635	0	0	0	0	0	A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	G	9.484	1.098935	0.20552	2.27E-4	0.0	ENSG00000138315	ENST00000334011	D	0.82344	-1.6	5.59	3.29	0.37713	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.100063	0.41938	N	0.000794	T	0.49729	0.1574	N	0.00347	-1.61	0.23293	N	0.997965	B	0.02656	0.0	B	0.04013	0.001	T	0.48375	-0.9041	10	0.23302	T	0.38	-18.3649	8.4443	0.32833	0.7726:0.0:0.2274:0.0	.	447	Q8WWZ8	OIT3_HUMAN	I	447	ENSP00000333900:V447I	ENSP00000333900:V447I	V	+	1	0	OIT3	74354380	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.199000	0.51043	0.422000	0.26005	-0.471000	0.05019	GTC	G|1.000;A|0.000		0.552	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635	
C10orf11	83938	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	77542776	77542776	+	Nonsense_Mutation	SNP	A	A	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr10:77542776A>T	ENST00000372499.1	+	1	258	c.43A>T	c.(43-45)Aaa>Taa	p.K15*	C10orf11_ENST00000593699.1_Intron	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	15					melanocyte differentiation (GO:0030318)					endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					TTCTTCAAATAAAAGGTTAGC	0.413																																					p.K15X		.											.	C10orf11-90	0			c.A43T						.						84.0	77.0	80.0					10																	77542776		2203	4300	6503	SO:0001587	stop_gained	83938	exon1			TCAAATAAAAGGT	AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"""oculocutaneous albinism 7, autosomal recessive"""	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.43A>T	10.37:g.77542776A>T	ENSP00000361577:p.Lys15*	102	0		110	17	NM_032024	0	0	0	0	0	B1AVW6	Nonsense_Mutation	SNP	ENST00000372499.1	37	CCDS7351.1	.	.	.	.	.	.	.	.	.	.	A	40	8.003587	0.98605	.	.	ENSG00000148655	ENST00000372499	.	.	.	5.69	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	10.0166	0.42018	0.9162:0.0:0.0838:0.0	.	.	.	.	X	15	.	ENSP00000361577:K15X	K	+	1	0	C10orf11	77212782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.618000	0.54188	0.985000	0.38656	0.533000	0.62120	AAA	.		0.413	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048839.1	NM_032024	
TBC1D12	23232	hgsc.bcm.edu	37	10	96163039	96163039	+	Silent	SNP	C	C	G	rs2477534	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	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	0		33	17	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		
LZTS2	84445	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	102766836	102766836	+	Missense_Mutation	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr10:102766836G>A	ENST00000370220.1	+	4	4984	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	LZTS2_ENST00000370223.3_Missense_Mutation_p.E641K					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GCTCAGCCTGGAGCTGGAGGC	0.642																																					p.E641K	Esophageal Squamous(8;38 437 13604 19902 37640)	.											.	LZTS2-155	0			c.G1921A						.						23.0	18.0	20.0					10																	102766836		2187	4258	6445	SO:0001583	missense	84445	exon5			AGCCTGGAGCTGG	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1921G>A	10.37:g.102766836G>A	ENSP00000359240:p.Glu641Lys	84	1		247	44	NM_032429	0	0	0	0	0		Missense_Mutation	SNP	ENST00000370220.1	37	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017145	0.93404	.	.	ENSG00000107816	ENST00000370223;ENST00000370220	T;T	0.37915	1.17;1.17	4.72	4.72	0.59763	.	0.114043	0.56097	D	0.000022	T	0.35219	0.0924	N	0.08118	0	0.58432	D	0.999999	D	0.61080	0.989	P	0.60473	0.875	T	0.30995	-0.9959	10	0.38643	T	0.18	-25.4741	14.4763	0.67548	0.0:0.1479:0.8521:0.0	.	641	Q9BRK4	LZTS2_HUMAN	K	641	ENSP00000359243:E641K;ENSP00000359240:E641K	ENSP00000359240:E641K	E	+	1	0	LZTS2	102756826	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.030000	0.70903	2.321000	0.78463	0.462000	0.41574	GAG	.		0.642	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743	
NFKB2	4791	hgsc.bcm.edu	37	10	104159196	104159196	+	Silent	SNP	A	A	G	rs4919633	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr10:104159196A>G	ENST00000369966.3	+	13	1519	c.1269A>G	c.(1267-1269)ccA>ccG	p.P423P	NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000189444.6_Silent_p.P423P|NFKB2_ENST00000428099.1_Silent_p.P423P	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	423					extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CCGCGGAGCCAAGCGCCCCCT	0.786			T	IGH@	B-NHL								G|||	4942	0.986821	0.9539	0.9942	5008	,	,		10589	1.0		0.999	False		,,,				2504	1.0				p.P423P		.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2-522	0			c.A1269G						.	G	,,	2876,76		1401,74,1	3.0	5.0	4.0		1269,1269,1269	-4.9	0.0	10	dbSNP_111	4	6622,2		3310,2,0	no	coding-synonymous,coding-synonymous,coding-synonymous	NFKB2	NM_001077493.1,NM_001077494.1,NM_002502.3	,,	4711,76,1	GG,GA,AA		0.0302,2.5745,0.8145	,,	423/900,423/901,423/900	104159196	9498,78	1476	3312	4788	SO:0001819	synonymous_variant	4791	exon13			GGAGCCAAGCGCC	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.1269A>G	10.37:g.104159196A>G		0	0		16	16	NM_001077494	0	0	0	0	0	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	CCDS41564.1																																																																																			A|0.009;G|0.991		0.786	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2		
CDHR5	53841	broad.mit.edu;bcgsc.ca	37	11	624261	624263	+	Splice_Site	DEL	CTC	CTC	-			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:624261_624263delCTC	ENST00000358353.3	-	4	584_586	c.262_264delGAG	c.(262-264)gagdel	p.E88del	CDHR5_ENST00000397542.2_Splice_Site_p.E88del|CDHR5_ENST00000529337.1_5'UTR|CDHR5_ENST00000349570.7_Splice_Site_p.E88del			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	88	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						gcagtgacttctcctgtggatgt	0.665																																					p.88_88del		.											.	CDHR5-90	0			c.262_264del						.																																			SO:0001630	splice_region_variant	53841	exon3			TGACTTCTCCTGT	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.262-1GAG>-	11.37:g.624261_624263delCTC		121	0		340	38	NM_031264	0	0	0	0	0	C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	In_Frame_Del	DEL	ENST00000358353.3	37	CCDS7707.1																																																																																			.		0.665	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924	In_Frame_Del
MUC2	4583	broad.mit.edu	37	11	1092947	1092947	+	Missense_Mutation	SNP	C	C	A	rs111219026		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:1092947C>A	ENST00000441003.2	+	30	4793	c.4766C>A	c.(4765-4767)aCc>aAc	p.T1589N	MUC2_ENST00000359061.5_Missense_Mutation_p.T1590N|MUC2_ENST00000333592.6_5'Flank|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.T1589N(2)|p.T1590N(2)|p.T1590I(2)|p.T1589I(2)		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)	atcaccaccaccactacggtg	0.627																																					p.T1589N		.											.	MUC2-90	8	Substitution - Missense(8)	endometrium(8)	c.C4766A						.						58.0	93.0	81.0					11																	1092947		1850	3386	5236	SO:0001583	missense	4583	exon30			CCACCACCACTAC	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.4766C>A	11.37:g.1092947C>A	ENSP00000415183:p.Thr1589Asn	114	1		186	5	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	6.043	0.376346	0.11466	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.14516	2.5;2.84	1.75	1.75	0.24633	.	1.843980	0.03632	U	0.238018	T	0.07863	0.0197	.	.	.	0.09310	N	1	P	0.45986	0.87	B	0.31101	0.124	T	0.33189	-0.9878	9	0.27082	T	0.32	.	8.7142	0.34401	0.0:1.0:0.0:0.0	.	1589	E7EUV1	.	N	1589;1590	ENSP00000415183:T1589N;ENSP00000351956:T1590N	ENSP00000351956:T1590N	T	+	2	0	MUC2	1082947	0.034000	0.19679	0.006000	0.13384	0.170000	0.22686	1.835000	0.39181	1.016000	0.39470	0.121000	0.15741	ACC	.		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
OR52D1	390066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	5510738	5510738	+	Missense_Mutation	SNP	G	G	C	rs542670667		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:5510738G>C	ENST00000322641.5	+	1	824	c.802G>C	c.(802-804)Ggt>Cgt	p.G268R	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	268					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACCGCTTTGGTCACCACGA	0.507													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21824	0.0		0.0	False		,,,				2504	0.0				p.G268R		.											.	OR52D1-68	0			c.G802C						.						153.0	136.0	142.0					11																	5510738		2201	4297	6498	SO:0001583	missense	390066	exon1			CGCTTTGGTCACC	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.802G>C	11.37:g.5510738G>C	ENSP00000326232:p.Gly268Arg	122	0		123	27	NM_001005163	0	0	0	0	0	B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851027	0.71719	.	.	ENSG00000181609	ENST00000322641	T	0.37752	1.18	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.67841	0.2936	M	0.88377	2.95	0.39511	D	0.968367	D	0.89917	1.0	D	0.97110	1.0	T	0.73780	-0.3875	10	0.72032	D	0.01	.	18.3106	0.90199	0.0:0.0:1.0:0.0	.	268	Q9H346	O52D1_HUMAN	R	268	ENSP00000326232:G268R	ENSP00000326232:G268R	G	+	1	0	OR52D1	5467314	0.999000	0.42202	1.000000	0.80357	0.942000	0.58702	2.168000	0.42424	2.906000	0.99361	0.655000	0.94253	GGT	.		0.507	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163	
DNHD1	144132	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	6579406	6579406	+	Missense_Mutation	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:6579406G>A	ENST00000527990.2	+	23	8881	c.8881G>A	c.(8881-8883)Gca>Aca	p.A2961T	DNHD1_ENST00000254579.6_Missense_Mutation_p.A2961T			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2961					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTGGCCCTGGCAACCTCAGG	0.552																																					p.A2961T		.											.	DNHD1-24	0			c.G8881A						.						70.0	59.0	63.0					11																	6579406		692	1591	2283	SO:0001583	missense	144132	exon25			GCCCTGGCAACCT	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.8881G>A	11.37:g.6579406G>A	ENSP00000436180:p.Ala2961Thr	144	1		242	45	NM_144666	0	0	0	0	0	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848009	0.32699	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000534210;ENST00000524401	T;T	0.26373	1.74;1.74	5.19	5.19	0.71726	.	.	.	.	.	T	0.26521	0.0648	N	0.14661	0.345	0.28056	N	0.933172	D;D	0.60160	0.987;0.979	P;P	0.56865	0.808;0.801	T	0.06092	-1.0846	9	0.41790	T	0.15	.	10.174	0.42927	0.0917:0.0:0.9083:0.0	.	2961;708	Q96M86;E9PHZ7	DNHD1_HUMAN;.	T	2961;2961;708;26	ENSP00000254579:A2961T;ENSP00000436180:A2961T	ENSP00000254579:A2961T	A	+	1	0	DNHD1	6535982	0.984000	0.35163	1.000000	0.80357	0.954000	0.61252	2.609000	0.46317	2.569000	0.86673	0.650000	0.86243	GCA	.		0.552	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
FANCF	2188	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	22646416	22646416	+	Missense_Mutation	SNP	A	A	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:22646416A>G	ENST00000327470.3	-	1	971	c.941T>C	c.(940-942)cTc>cCc	p.L314P	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	314					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GGCCTGACAGAGGCTTTGAAA	0.498			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L314P		.	yes	Rec		Fanconi anaemia F	11	11p15	2188	"""Fanconi anemia, complementation group F"""		L	.	FANCF-1083	0			c.T941C						.						95.0	101.0	99.0					11																	22646416		2203	4300	6503	SO:0001583	missense	2188	exon1	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	TGACAGAGGCTTT		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.941T>C	11.37:g.22646416A>G	ENSP00000330875:p.Leu314Pro	93	0	757	96	10	NM_022725	0	0	0	0	0	Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.364059	0.82353	.	.	ENSG00000183161	ENST00000327470	T	0.50001	0.76	5.51	5.51	0.81932	.	0.000000	0.64402	U	0.000014	T	0.65933	0.2739	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68868	-0.5295	10	0.87932	D	0	-13.9608	14.3548	0.66730	1.0:0.0:0.0:0.0	.	314	Q9NPI8	FANCF_HUMAN	P	314	ENSP00000330875:L314P	ENSP00000330875:L314P	L	-	2	0	FANCF	22602992	0.999000	0.42202	0.995000	0.50966	0.979000	0.70002	5.406000	0.66357	2.317000	0.78254	0.459000	0.35465	CTC	.		0.498	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725	
PRDM11	56981	broad.mit.edu	37	11	45204461	45204461	+	Silent	SNP	C	C	A	rs374034058		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:45204461C>A	ENST00000530656.1	+	4	375	c.375C>A	c.(373-375)ggC>ggA	p.G125G	PRDM11_ENST00000263765.4_Silent_p.G125G|PRDM11_ENST00000424263.2_Silent_p.G91G			Q9NQV5	PRD11_HUMAN	PR domain containing 11	125							methyltransferase activity (GO:0008168)	p.G125G(1)		endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CAAACCATGGCCCCCCGGTGT	0.607																																					p.G91G	NSCLC(118;1511 1736 6472 36603 43224)	.											.	PRDM11-91	1	Substitution - coding silent(1)	endometrium(1)	c.C273A						.						71.0	73.0	72.0					11																	45204461		2203	4299	6502	SO:0001819	synonymous_variant	56981	exon4			CCATGGCCCCCCG	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.375C>A	11.37:g.45204461C>A		80	0		113	5	NM_001256695	0	0	0	0	0	Q8N9F1	Silent	SNP	ENST00000530656.1	37																																																																																				.		0.607	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229	
DGKZ	8525	hgsc.bcm.edu	37	11	46387868	46387868	+	Missense_Mutation	SNP	A	A	G	rs1317826	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:46387868A>G	ENST00000454345.1	+	2	187	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	21			Q -> R (in dbSNP:rs1317826). {ECO:0000269|PubMed:9159104}.		blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GAGGGGCAGCAGCGGCCCAGC	0.701													G|||	2181	0.435503	0.9107	0.2493	5008	,	,		13838	0.1458		0.3111	False		,,,				2504	0.3517				p.Q21R		.											.	DGKZ-676	0			c.A62G						.	G	ARG/GLN,,,,,,	2682,930		1027,628,151	8.0	9.0	9.0		62,,,,,,	4.5	1.0	11	dbSNP_88	9	2229,5713		386,1457,2128	yes	missense,intron,intron,intron,intron,intron,intron	DGKZ	NM_001105540.1,NM_001199266.1,NM_001199267.1,NM_001199268.1,NM_003646.3,NM_201532.2,NM_201533.3	43,,,,,,	1413,2085,2279	GG,GA,AA		28.066,25.7475,42.5048	benign,,,,,,	21/1118,,,,,,	46387868	4911,6643	1806	3971	5777	SO:0001583	missense	8525	exon2			GGCAGCAGCGGCC	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.62A>G	11.37:g.46387868A>G	ENSP00000412178:p.Gln21Arg	0	0		4	4	NM_001105540	0	0	0	0	0	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	872	0.3992673992673993	446	0.9065040650406504	95	0.26243093922651933	97	0.16958041958041958	234	0.3087071240105541	G	2.360	-0.346808	0.05208	0.742525	0.28066	ENSG00000149091	ENST00000454345	T	0.64260	-0.09	4.53	4.53	0.55603	.	0.291635	0.22594	N	0.058046	T	0.00012	0.0000	N	0.02916	-0.46	0.09310	P	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40961	-0.9535	9	0.02654	T	1	.	13.0604	0.59003	0.0784:0.0:0.9216:0.0	rs1317826	21	Q13574	DGKZ_HUMAN	R	21	ENSP00000412178:Q21R	ENSP00000412178:Q21R	Q	+	2	0	DGKZ	46344444	1.000000	0.71417	0.991000	0.47740	0.097000	0.18754	3.832000	0.55783	1.049000	0.40321	-0.213000	0.12676	CAG	A|0.608;G|0.392		0.701	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540	
DGKZ	8525	hgsc.bcm.edu	37	11	46387906	46387906	+	Missense_Mutation	SNP	C	C	T	rs376052908	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:46387906C>T	ENST00000454345.1	+	2	225	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	34					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		AGGCAAGGCCCGGCGTCGCTC	0.711													C|||	7	0.00139776	0.0	0.0	5008	,	,		12225	0.0		0.0	False		,,,				2504	0.0072				p.R34W		.											.	DGKZ-676	0			c.C100T						.	C	TRP/ARG,,,,,,	0,3652		0,0,1826	5.0	6.0	6.0		100,,,,,,	3.6	1.0	11		6	2,7962		0,2,3980	no	missense,intron,intron,intron,intron,intron,intron	DGKZ	NM_001105540.1,NM_001199266.1,NM_001199267.1,NM_001199268.1,NM_003646.3,NM_201532.2,NM_201533.3	101,,,,,,	0,2,5806	TT,TC,CC		0.0251,0.0,0.0172	probably-damaging,,,,,,	34/1118,,,,,,	46387906	2,11614	1826	3982	5808	SO:0001583	missense	8525	exon2			AAGGCCCGGCGTC	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.100C>T	11.37:g.46387906C>T	ENSP00000412178:p.Arg34Trp	0	0		5	5	NM_001105540	0	0	0	0	0	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747226	0.49257	0.0	2.51E-4	ENSG00000149091	ENST00000454345	T	0.79749	-1.3	4.53	3.59	0.41128	.	1.558090	0.04229	N	0.334954	T	0.81475	0.4830	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	P	0.50231	0.635	T	0.69643	-0.5090	10	0.87932	D	0	.	13.1739	0.59615	0.3773:0.6227:0.0:0.0	.	34	Q13574	DGKZ_HUMAN	W	34	ENSP00000412178:R34W	ENSP00000412178:R34W	R	+	1	2	DGKZ	46344482	0.977000	0.34250	0.996000	0.52242	0.444000	0.32077	1.008000	0.29872	0.989000	0.38761	0.563000	0.77884	CGG	.		0.711	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540	
DDB2	1643	broad.mit.edu	37	11	47256376	47256376	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:47256376delC	ENST00000256996.4	+	6	966	c.771delC	c.(769-771)ttcfs	p.F257fs	DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378601.3_Intron|DDB2_ENST00000378603.3_Frame_Shift_Del_p.F193fs	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	257					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						GTGATTGGTTCCTGGCCACAG	0.537			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.F257fs		.	yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	damage-specific DNA binding protein 2		E	.	DDB2-971	0			c.771delC						.						53.0	51.0	51.0					11																	47256376		2201	4298	6499	SO:0001589	frameshift_variant	1643	exon6	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	TTGGTTCCTGGCC		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.771delC	11.37:g.47256376delC	ENSP00000256996:p.Phe257fs	107	0		232	21	NM_000107	0	0	0	0	0	B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Frame_Shift_Del	DEL	ENST00000256996.4	37	CCDS7927.1																																																																																			.		0.537	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107	
OR5M1	390168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	56380625	56380625	+	Missense_Mutation	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:56380625C>T	ENST00000526538.1	-	1	353	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GATCCAATGCCATTGAAGCAA	0.468																																					p.M118I		.											.	OR5M1-94	0			c.G354A						.						165.0	149.0	154.0					11																	56380625		1995	4174	6169	SO:0001583	missense	390168	exon1			CAATGCCATTGAA	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.354G>A	11.37:g.56380625C>T	ENSP00000435416:p.Met118Ile	350	0		362	74	NM_001004740	0	0	0	0	0	Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855826	0.71834	.	.	ENSG00000255012	ENST00000526538	T	0.01126	5.3	3.71	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000187	T	0.06325	0.0163	H	0.95402	3.665	0.38861	D	0.956479	P	0.50943	0.94	P	0.48454	0.578	T	0.11397	-1.0589	10	0.87932	D	0	-98.617	14.3562	0.66740	0.0:1.0:0.0:0.0	.	118	Q8NGP8	OR5M1_HUMAN	I	118	ENSP00000435416:M118I	ENSP00000435416:M118I	M	-	3	0	OR5M1	56137201	1.000000	0.71417	0.933000	0.37362	0.942000	0.58702	5.477000	0.66799	1.949000	0.56562	0.280000	0.19369	ATG	.		0.468	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740	
OR10Q1	219960	broad.mit.edu;bcgsc.ca	37	11	57995729	57995729	+	Missense_Mutation	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:57995729C>T	ENST00000316770.2	-	1	661	c.619G>A	c.(619-621)Gtg>Atg	p.V207M		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AGGATGCTCACGACATAGAGG	0.627																																					p.V207M		.											.	OR10Q1-70	0			c.G619A						.						79.0	67.0	71.0					11																	57995729		2201	4295	6496	SO:0001583	missense	219960	exon1			TGCTCACGACATA	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.619G>A	11.37:g.57995729C>T	ENSP00000314324:p.Val207Met	276	0		277	12	NM_001004471	0	0	0	0	0	Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	9.269	1.045112	0.19748	.	.	ENSG00000180475	ENST00000316770	T	0.00211	8.54	4.55	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.192597	0.25194	N	0.032434	T	0.00241	0.0007	L	0.45470	1.425	0.25967	N	0.982545	P	0.49447	0.924	B	0.43990	0.438	T	0.63251	-0.6679	10	0.52906	T	0.07	.	14.9035	0.70699	0.0:1.0:0.0:0.0	.	207	Q8NGQ4	O10Q1_HUMAN	M	207	ENSP00000314324:V207M	ENSP00000314324:V207M	V	-	1	0	OR10Q1	57752305	0.000000	0.05858	0.941000	0.38009	0.020000	0.10135	0.162000	0.16501	2.368000	0.80403	0.580000	0.79431	GTG	.		0.627	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471	
PPP1R32	220004	bcgsc.ca	37	11	61249383	61249383	+	Silent	SNP	C	C	A	rs3019200	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:61249383C>A	ENST00000338608.2	+	2	227	c.102C>A	c.(100-102)acC>acA	p.T34T	PPP1R32_ENST00000432063.2_Silent_p.T34T|RP11-286N22.8_ENST00000544880.1_Intron|RP11-286N22.8_ENST00000543044.1_3'UTR	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	34							phosphatase binding (GO:0019902)										GCTACTGCACCGCCTACGGTG	0.617													A|||	3884	0.775559	0.5008	0.8458	5008	,	,		19122	0.9732		0.826	False		,,,				2504	0.8415				p.T34T		.											.	.	0			c.C102A						.	A	,	2354,2050	558.9+/-380.1	639,1076,487	35.0	34.0	34.0		102,102	-0.7	0.8	11	dbSNP_101	34	7027,1571	286.2+/-297.6	2878,1271,150	no	coding-synonymous,coding-synonymous	C11orf66	NM_001170753.1,NM_145017.2	,	3517,2347,637	AA,AC,CC		18.2717,46.5486,27.8496	,	34/406,34/426	61249383	9381,3621	2202	4299	6501	SO:0001819	synonymous_variant	220004	exon2			CTGCACCGCCTAC	AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28869	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 66"""	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.102C>A	11.37:g.61249383C>A		44	0		61	5	NM_001170753	0	0	0	0	0	Q4G0P4|Q96M77	Silent	SNP	ENST00000338608.2	37	CCDS8008.1																																																																																			C|0.251;A|0.749		0.617	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017	
SYT7	9066	broad.mit.edu;bcgsc.ca	37	11	61291923	61291923	+	Missense_Mutation	SNP	A	A	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:61291923A>G	ENST00000263846.4	-	6	1031	c.704T>C	c.(703-705)aTt>aCt	p.I235T	SYT7_ENST00000540677.1_Missense_Mutation_p.I310T|SYT7_ENST00000535826.1_Missense_Mutation_p.I354T|SYT7_ENST00000542836.1_Missense_Mutation_p.I279T|SYT7_ENST00000539008.1_Missense_Mutation_p.I518T|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542670.1_Missense_Mutation_p.I443T	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	235	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACCTCCCCAATGGGGTCGTT	0.557																																					p.I310T		.											.	SYT7-94	0			c.T929C						.						87.0	81.0	83.0					11																	61291923		2202	4299	6501	SO:0001583	missense	9066	exon7			TCCCCAATGGGGT	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.704T>C	11.37:g.61291923A>G	ENSP00000263846:p.Ile235Thr	169	0		272	11	NM_001252065	0	0	0	0	0	F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109635	0.77096	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73	4.69	4.69	0.59074	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	M	0.89214	3.015	0.80722	D	1	D;D	0.67145	0.996;0.994	D;D	0.91635	0.999;0.999	T	0.54536	-0.8279	10	0.87932	D	0	.	14.4328	0.67261	1.0:0.0:0.0:0.0	.	310;235	F5GZU9;O43581	.;SYT7_HUMAN	T	235;310;518;279;443;354	ENSP00000263846:I235T;ENSP00000444201:I310T;ENSP00000439694:I518T;ENSP00000444568:I279T;ENSP00000444019:I443T;ENSP00000437720:I354T	ENSP00000263846:I235T	I	-	2	0	SYT7	61048499	1.000000	0.71417	0.954000	0.39281	0.968000	0.65278	9.229000	0.95273	1.855000	0.53841	0.379000	0.24179	ATT	.		0.557	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200	
INCENP	3619	hgsc.bcm.edu	37	11	61914282	61914282	+	Silent	SNP	G	G	A	rs113981632	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:61914282G>A	ENST00000394818.3	+	15	2314	c.2112G>A	c.(2110-2112)gaG>gaA	p.E704E	INCENP_ENST00000278849.4_Silent_p.E700E	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	704					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						agcggcgcgagcaggagcggc	0.751													G|||	148	0.0295527	0.0439	0.0303	5008	,	,		10530	0.002		0.0507	False		,,,				2504	0.0164				p.E704E		.											.	INCENP-227	0			c.G2112A						.	G	,	138,3434		2,134,1650	3.0	5.0	4.0		2112,2100	0.2	0.0	11	dbSNP_132	4	293,6883		6,281,3301	no	coding-synonymous,coding-synonymous	INCENP	NM_001040694.1,NM_020238.2	,	8,415,4951	AA,AG,GG		4.0831,3.8634,4.01	,	704/919,700/915	61914282	431,10317	1786	3588	5374	SO:0001819	synonymous_variant	3619	exon15			GCGCGAGCAGGAG	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2112G>A	11.37:g.61914282G>A		1	0		9	5	NM_001040694	0	0	0	0	0	A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	CCDS44624.1																																																																																			A|0.035;G|0.965		0.751	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238	
TM7SF2	7108	hgsc.bcm.edu	37	11	64880090	64880090	+	Silent	SNP	G	G	C	rs4930284	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:64880090G>C	ENST00000279263.7	+	2	318	c.156G>C	c.(154-156)ccG>ccC	p.P52P	TM7SF2_ENST00000540748.1_5'UTR|TM7SF2_ENST00000345348.5_Silent_p.P52P|AP003068.9_ENST00000528887.1_RNA	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	52					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTCCCTGCCGGGGCTGGAGG	0.756													C|||	4990	0.996406	0.9879	0.9986	5008	,	,		10438	1.0		0.999	False		,,,				2504	1.0				p.P52P		.											.	TM7SF2-91	0			c.G156C						.	C		2924,8		1458,8,0	2.0	2.0	2.0		156	-9.8	0.0	11	dbSNP_111	2	6426,0		3213,0,0	no	coding-synonymous	TM7SF2	NM_003273.2		4671,8,0	CC,CG,GG		0.0,0.2729,0.0855		52/419	64880090	9350,8	1466	3213	4679	SO:0001819	synonymous_variant	7108	exon2			CCTGCCGGGGCTG	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.156G>C	11.37:g.64880090G>C		0	0		6	6	NM_003273	0	0	0	0	0	A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Silent	SNP	ENST00000279263.7	37	CCDS41669.1																																																																																			G|0.005;C|0.995		0.756	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273	
PCNXL3	399909	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	65386303	65386303	+	Silent	SNP	G	G	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:65386303G>C	ENST00000355703.3	+	6	2009	c.1470G>C	c.(1468-1470)cgG>cgC	p.R490R		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	490						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGACCCAGCGGACGCCTAGTA	0.687																																					p.R490R		.											.	PCNXL3-46	0			c.G1470C						.						23.0	26.0	25.0					11																	65386303		1925	4123	6048	SO:0001819	synonymous_variant	399909	exon6			CCAGCGGACGCCT	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.1470G>C	11.37:g.65386303G>C		18	0		34	12	NM_032223	0	0	0	0	0	Q6MZN8	Silent	SNP	ENST00000355703.3	37	CCDS44650.1																																																																																			.		0.687	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223	
SPTBN2	6712	broad.mit.edu	37	11	66461607	66461608	+	Splice_Site	DEL	CA	CA	-			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:66461607_66461608delCA	ENST00000533211.1	-	22	4835		c.e22+1		SPTBN2_ENST00000529997.1_Splice_Site|SPTBN2_ENST00000309996.2_Splice_Site			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2						actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCAGTGACTCACAATCTCATC	0.629																																					.		.											.	SPTBN2-155	0			.						.																																			SO:0001630	splice_region_variant	6712	.			GTGACTCACAATC	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4503+1TG>-	11.37:g.66461609_66461610delCA		11	0		18	8	.	0	0	0	0	0	O14872|O14873	Splice_Site	DEL	ENST00000533211.1	37	CCDS8150.1																																																																																			.		0.629	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946	Intron
LRRC32	2615	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	76370747	76370747	+	Silent	SNP	G	G	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:76370747G>T	ENST00000407242.2	-	3	2132	c.1890C>A	c.(1888-1890)atC>atA	p.I630I	LRRC32_ENST00000404995.1_Silent_p.I630I|RP11-672A2.4_ENST00000531511.1_lincRNA|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.I630I	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	630					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGGTGAGGATGATGATGAGGT	0.567																																					p.I630I		.											.	LRRC32-90	0			c.C1890A						.						158.0	147.0	151.0					11																	76370747		2200	4292	6492	SO:0001819	synonymous_variant	2615	exon3			GAGGATGATGATG	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1890C>A	11.37:g.76370747G>T		95	0		108	16	NM_005512	0	0	0	0	0	Q86V06	Silent	SNP	ENST00000407242.2	37	CCDS8245.1																																																																																			.		0.567	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512	
B3GNT6	192134	hgsc.bcm.edu	37	11	76751585	76751604	+	Frame_Shift_Del	DEL	TGGCCCTTCGGCGTGCAGCT	TGGCCCTTCGGCGTGCAGCT	-	rs200788398|rs34153015|rs11292200|rs201940118|rs11292199	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	TGGCCCTTCGGCGTGCAGCT	TGGCCCTTCGGCGTGCAGCT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:76751585_76751604delTGGCCCTTCGGCGTGCAGCT	ENST00000533140.1	+	2	1128_1147	c.990_1009delTGGCCCTTCGGCGTGCAGCT	c.(988-1011)cctggcccttcggcgtgcagcttgfs	p.GPSACSL331fs	B3GNT6_ENST00000354301.5_Splice_Site_p.WPFGVQL330fs|B3GNT6_ENST00000421061.1_Splice_Site_p.IGPSACS209fs			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GAGGGCATCCTGGCCCTTCGGCGTGCAGCTTGCCTGGCGC	0.686																																					p.330_336del		.											.	.	0			c.989_1006del						.																																			SO:0001589	frameshift_variant	192134	exon4			GCATCCTGGCCCT	AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"""Beta 3-glycosyltransferases"""	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.990_1009delTGGCCCTTCGGCGTGCAGCT	11.37:g.76751585_76751604delTGGCCCTTCGGCGTGCAGCT	ENSP00000435352:p.Gly331fs	1	0		32	0	NM_138706	0	0	0	0	0	Q4TTN0	In_Frame_Del	DEL	ENST00000533140.1	37	CCDS53681.1																																																																																			.		0.686	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706	
TENM4	26011	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	78369696	78369696	+	Missense_Mutation	SNP	C	C	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:78369696C>A	ENST00000278550.7	-	34	8179	c.7717G>T	c.(7717-7719)Gcc>Tcc	p.A2573S		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2573					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TCCTTCAAGGCAAACTTGACC	0.542																																					p.A2573S		.											.	.	0			c.G7717T						.						45.0	47.0	46.0					11																	78369696		2054	4196	6250	SO:0001583	missense	26011	exon34			TCAAGGCAAACTT	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7717G>T	11.37:g.78369696C>A	ENSP00000278550:p.Ala2573Ser	114	0		114	11	NM_001098816	0	0	0	0	0	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656471	0.67586	.	.	ENSG00000149256	ENST00000278550	D	0.88277	-2.36	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.92609	0.7652	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.90787	0.4683	9	.	.	.	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	2573	Q6N022	TEN4_HUMAN	S	2573	ENSP00000278550:A2573S	.	A	-	1	0	ODZ4	78047344	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.875000	0.69660	2.941000	0.99782	0.655000	0.94253	GCC	.		0.542	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		
TMEM135	65084	broad.mit.edu	37	11	86749164	86749164	+	Missense_Mutation	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:86749164C>T	ENST00000305494.5	+	1	116	c.77C>T	c.(76-78)tCc>tTc	p.S26F	TMEM135_ENST00000340353.7_Missense_Mutation_p.S26F|TMEM135_ENST00000535167.1_5'UTR|TMEM135_ENST00000355734.4_Missense_Mutation_p.S26F|TMEM135_ENST00000532959.1_Intron	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	26					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGCCGGGTCTCCTTCCTGCAG	0.612																																					p.S26F		.											.	TMEM135-514	0			c.C77T						.						75.0	71.0	72.0					11																	86749164		2201	4299	6500	SO:0001583	missense	65084	exon1			GGGTCTCCTTCCT	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.77C>T	11.37:g.86749164C>T	ENSP00000306344:p.Ser26Phe	98	1		98	5	NM_022918	0	0	0	0	0	Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	ENST00000305494.5	37	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918116	0.92249	.	.	ENSG00000166575	ENST00000340353;ENST00000526733;ENST00000525018;ENST00000355734;ENST00000305494	T;T;T	0.51071	0.87;0.72;0.85	5.13	4.21	0.49690	.	0.192224	0.46442	D	0.000291	T	0.54208	0.1844	L	0.50333	1.59	0.80722	D	1	P;P;D	0.61080	0.874;0.937;0.989	P;P;P	0.54312	0.568;0.735;0.748	T	0.53961	-0.8364	9	.	.	.	-10.0636	14.4255	0.67212	0.0:0.8515:0.1485:0.0	.	26;26;26	Q86UB9-2;Q86UB9;Q8N605	.;TM135_HUMAN;.	F	26	ENSP00000345513:S26F;ENSP00000433927:S26F;ENSP00000306344:S26F	.	S	+	2	0	TMEM135	86426812	0.991000	0.36638	0.999000	0.59377	0.994000	0.84299	5.107000	0.64603	1.367000	0.46095	0.563000	0.77884	TCC	.		0.612	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918	
FAT3	120114	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	92624186	92624186	+	Missense_Mutation	SNP	A	A	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:92624186A>T	ENST00000298047.6	+	27	13694	c.13677A>T	c.(13675-13677)gaA>gaT	p.E4559D	FAT3_ENST00000525166.1_Missense_Mutation_p.E4409D|FAT3_ENST00000409404.2_Missense_Mutation_p.E4527D|FAT3_ENST00000533797.1_Missense_Mutation_p.E862D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4559					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACGATTCCGAAGTAGCCATGA	0.557										TCGA Ovarian(4;0.039)																											p.E4527D		.											.	FAT3-73	0			c.A13581T						.						38.0	40.0	40.0					11																	92624186		2069	4205	6274	SO:0001583	missense	120114	exon25			TTCCGAAGTAGCC	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.13677A>T	11.37:g.92624186A>T	ENSP00000298047:p.Glu4559Asp	150	2		145	40	NM_001008781	0	0	0	0	0	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	A	16.20	3.056200	0.55325	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	D;T;D;D	0.89123	-1.67;-1.48;-1.63;-2.47	5.41	0.47	0.16747	.	.	.	.	.	D	0.85682	0.5753	M	0.76574	2.34	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.78565	-0.2155	9	0.87932	D	0	.	5.7508	0.18146	0.5788:0.1328:0.2884:0.0	.	4527;4559	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	D	4559;4527;4409;862	ENSP00000298047:E4559D;ENSP00000387040:E4527D;ENSP00000432586:E4409D;ENSP00000436399:E862D	ENSP00000298047:E4559D	E	+	3	2	FAT3	92263834	0.316000	0.24580	0.940000	0.37924	0.793000	0.44817	0.116000	0.15561	0.042000	0.15717	0.533000	0.62120	GAA	.		0.557	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
BACE1	23621	hgsc.bcm.edu	37	11	117186506	117186506	+	Silent	SNP	G	G	A	rs28917234	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:117186506G>A	ENST00000313005.6	-	1	466	c.6C>T	c.(4-6)gcC>gcT	p.A2A	BACE1_ENST00000513780.1_Silent_p.A2A|BACE1_ENST00000445823.2_Silent_p.A2A|AP000892.4_ENST00000504906.1_RNA|BACE1_ENST00000428381.2_Silent_p.A2A|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000528053.1_Silent_p.A2A	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	2					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		GCAGGGCTTGGGCCATGGTGG	0.746													G|||	92	0.0183706	0.0023	0.0159	5008	,	,		10280	0.0		0.0378	False		,,,				2504	0.0409				p.A2A		.											.	BACE1-91	0			c.C6T						.	G	,,,	14,2658		0,14,1322	2.0	3.0	3.0		6,6,6,6	0.6	0.9	11	dbSNP_125	3	131,5129		1,129,2500	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BACE1	NM_012104.4,NM_138971.3,NM_138972.3,NM_138973.3	,,,	1,143,3822	AA,AG,GG		2.4905,0.524,1.828	,,,	2/502,2/458,2/477,2/433	117186506	145,7787	1336	2630	3966	SO:0001819	synonymous_variant	23621	exon1			GGCTTGGGCCATG	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.6C>T	11.37:g.117186506G>A		0	0		16	6	NM_138972	0	0	0	0	0	A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Silent	SNP	ENST00000313005.6	37	CCDS8383.1																																																																																			G|0.979;A|0.021		0.746	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1		
PDZD3	79849	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	119057343	119057343	+	Nonsense_Mutation	SNP	G	G	T	rs141570563		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:119057343G>T	ENST00000531114.1	+	2	1021	c.472G>T	c.(472-474)Gga>Tga	p.G158*	PDZD3_ENST00000392817.2_Nonsense_Mutation_p.G158*|PDZD3_ENST00000322712.4_Nonsense_Mutation_p.G92*|PDZD3_ENST00000525131.1_Nonsense_Mutation_p.G79*|PDZD3_ENST00000355547.5_Nonsense_Mutation_p.G92*			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	158	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		TCTTCAGGAAGGAGACAGGAT	0.592																																					p.G92X		.											.	PDZD3-153	0			c.G274T						.						64.0	43.0	50.0					11																	119057343		2200	4295	6495	SO:0001587	stop_gained	79849	exon4			CAGGAAGGAGACA	AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"""PDZ domain containing 2"""	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.472G>T	11.37:g.119057343G>T	ENSP00000431164:p.Gly158*	130	0		210	57	NM_001168468	0	0	0	0	0	Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Nonsense_Mutation	SNP	ENST00000531114.1	37		.	.	.	.	.	.	.	.	.	.	G	35	5.428937	0.96131	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	.	.	.	5.28	5.28	0.74379	.	0.062187	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.0891	19.0957	0.93249	0.0:0.0:1.0:0.0	.	.	.	.	X	79;158;92;92;92;158	.	ENSP00000327107:G92X	G	+	1	0	PDZD3	118562553	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	5.518000	0.67068	2.755000	0.94549	0.655000	0.94253	GGA	G|1.000;A|0.000		0.592	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791	
B3GAT1	27087	hgsc.bcm.edu	37	11	134253805	134253805	+	Silent	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:134253805G>A	ENST00000524765.1	-	3	4934	c.390C>T	c.(388-390)acC>acT	p.T130T	B3GAT1_ENST00000312527.4_Silent_p.T130T|B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000537389.1_Silent_p.T143T|B3GAT1_ENST00000392580.1_Silent_p.T130T			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	130					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GCAGGCGCGCGGTCAGCGGCG	0.706																																					p.T130T		.											.	B3GAT1-91	0			c.C390T						.						24.0	23.0	23.0					11																	134253805		2172	4207	6379	SO:0001819	synonymous_variant	27087	exon3			GCGCGCGGTCAGC	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.390C>T	11.37:g.134253805G>A		1	0		21	9	NM_054025	0	0	0	0	0	Q96FS7	Silent	SNP	ENST00000524765.1	37	CCDS8500.1																																																																																			.		0.706	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644	
FKBP4	2288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	2912330	2912330	+	Missense_Mutation	SNP	C	C	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:2912330C>G	ENST00000001008.4	+	10	1473	c.1286C>G	c.(1285-1287)gCt>gGt	p.A429G	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547794.1_RNA|RP4-816N1.6_ENST00000552469.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	429					androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			AAGGCAGAGGCTTCCTCAGGA	0.522																																					p.A429G		.											.	FKBP4-226	0			c.C1286G						.						62.0	53.0	56.0					12																	2912330		2203	4300	6503	SO:0001583	missense	2288	exon10			CAGAGGCTTCCTC	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.1286C>G	12.37:g.2912330C>G	ENSP00000001008:p.Ala429Gly	36	0		64	17	NM_002014	0	0	0	0	0	D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	ENST00000001008.4	37	CCDS8512.1	.	.	.	.	.	.	.	.	.	.	C	0.513	-0.865603	0.02590	.	.	ENSG00000004478	ENST00000001008	D	0.82344	-1.6	4.07	0.383	0.16239	.	1.908060	0.02348	N	0.075576	T	0.71492	0.3346	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53746	-0.8395	10	0.22706	T	0.39	-1.2012	5.6755	0.17745	0.0:0.4395:0.0:0.5605	.	429	Q02790	FKBP4_HUMAN	G	429	ENSP00000001008:A429G	ENSP00000001008:A429G	A	+	2	0	FKBP4	2782591	0.000000	0.05858	0.033000	0.17914	0.257000	0.26127	-0.143000	0.10296	0.178000	0.19917	-0.367000	0.07326	GCT	.		0.522	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1		
C1S	716	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	7177252	7177252	+	Missense_Mutation	SNP	T	T	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:7177252T>A	ENST00000406697.1	+	15	1992	c.1364T>A	c.(1363-1365)tTt>tAt	p.F455Y	C1S_ENST00000328916.3_Missense_Mutation_p.F455Y|C1S_ENST00000402681.3_Missense_Mutation_p.F288Y|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Missense_Mutation_p.F455Y			P09871	C1S_HUMAN	complement component 1, s subcomponent	455	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CAAGTCTTCTTTGACAACCCA	0.488																																					p.F455Y	GBM(156;750 1943 12971 24779 31015)	.											.	C1S-91	0			c.T1364A						.						62.0	64.0	63.0					12																	7177252		2203	4300	6503	SO:0001583	missense	716	exon12			TCTTCTTTGACAA		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1364T>A	12.37:g.7177252T>A	ENSP00000385035:p.Phe455Tyr	84	0		100	23	NM_201442	0	0	0	0	0	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.131372	0.56828	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	5.03	5.03	0.67393	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43416	D	0.000564	D	0.84579	0.5503	N	0.20685	0.6	0.28760	N	0.90098	B	0.30634	0.288	B	0.39590	0.304	T	0.81033	-0.1116	10	0.48119	T	0.1	.	14.9297	0.70906	0.0:0.0:0.0:1.0	.	455	P09871	C1S_HUMAN	Y	455;455;455;449;288	ENSP00000385035:F455Y;ENSP00000328173:F455Y;ENSP00000354057:F455Y;ENSP00000384171:F288Y	ENSP00000328173:F455Y	F	+	2	0	C1S	7047513	0.980000	0.34600	0.831000	0.32960	0.103000	0.19146	3.373000	0.52394	2.107000	0.64212	0.379000	0.24179	TTT	.		0.488	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734	
IPO8	10526	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	30783824	30783824	+	Missense_Mutation	SNP	A	A	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:30783824A>T	ENST00000256079.4	-	25	3422	c.3084T>A	c.(3082-3084)ttT>ttA	p.F1028L	IPO8_ENST00000544829.1_Missense_Mutation_p.F823L	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	1028					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCCCAAAATTAAATGCGGAGA	0.428																																					p.F1028L		.											.	IPO8-227	0			c.T3084A						.						105.0	103.0	103.0					12																	30783824		2203	4300	6503	SO:0001583	missense	10526	exon25			AAAATTAAATGCG	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.3084T>A	12.37:g.30783824A>T	ENSP00000256079:p.Phe1028Leu	116	0		87	21	NM_006390	0	0	0	0	0	B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.547127	0.86022	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.58060	1.31;0.36	4.37	3.19	0.36642	.	0.000000	0.49916	D	0.000129	T	0.61874	0.2382	M	0.66297	2.02	0.36653	D	0.877523	D;D	0.61080	0.98;0.989	P;P	0.58721	0.844;0.718	T	0.70410	-0.4879	10	0.72032	D	0.01	-17.3008	8.7239	0.34458	0.9101:0.0:0.0899:0.0	.	823;1028	B7Z7M3;O15397	.;IPO8_HUMAN	L	1028;504;823	ENSP00000256079:F1028L;ENSP00000444520:F823L	ENSP00000256079:F1028L	F	-	3	2	IPO8	30675091	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.178000	0.50879	1.812000	0.52913	0.460000	0.39030	TTT	.		0.428	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390	
CNTN1	1272	broad.mit.edu	37	12	41419057	41419057	+	Missense_Mutation	SNP	T	T	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:41419057T>G	ENST00000551295.2	+	21	2746	c.2629T>G	c.(2629-2631)Tat>Gat	p.Y877D	CNTN1_ENST00000347616.1_Missense_Mutation_p.Y877D|CNTN1_ENST00000348761.2_Missense_Mutation_p.Y866D|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	877	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGACACCCAGTATTTTATAGA	0.502																																					p.Y877D		.											.	CNTN1-1149	0			c.T2629G						.						167.0	186.0	179.0					12																	41419057		2203	4300	6503	SO:0001583	missense	1272	exon21			ACCCAGTATTTTA	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2629T>G	12.37:g.41419057T>G	ENSP00000447006:p.Tyr877Asp	110	1		70	4	NM_001843	0	0	0	0	0	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978343	0.74360	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	D;D;D	0.89343	-2.5;-2.5;-2.5	4.88	4.88	0.63580	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95921	0.8672	H	0.94345	3.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97056	0.9767	10	0.72032	D	0.01	.	15.2111	0.73225	0.0:0.0:0.0:1.0	.	866;877	Q12860-2;Q12860	.;CNTN1_HUMAN	D	877;877;866	ENSP00000447006:Y877D;ENSP00000325660:Y877D;ENSP00000261160:Y866D	ENSP00000325660:Y877D	Y	+	1	0	CNTN1	39705324	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	7.375000	0.79646	2.127000	0.65507	0.533000	0.62120	TAT	.		0.502	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	
LETMD1	25875	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	51451824	51451824	+	Missense_Mutation	SNP	C	C	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:51451824C>G	ENST00000262055.4	+	8	964	c.925C>G	c.(925-927)Ctc>Gtc	p.L309V	LETMD1_ENST00000550929.1_Missense_Mutation_p.L253V|LETMD1_ENST00000547008.1_Missense_Mutation_p.L185V|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000418425.2_Missense_Mutation_p.L322V|LETMD1_ENST00000552739.1_Missense_Mutation_p.L192V	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	309	LETM1.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GGCTTGTTATCTCCGTGGCCT	0.408																																					p.L322V		.											.	LETMD1-90	0			c.C964G						.						157.0	141.0	146.0					12																	51451824		2203	4300	6503	SO:0001583	missense	25875	exon8			TGTTATCTCCGTG	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.925C>G	12.37:g.51451824C>G	ENSP00000262055:p.Leu309Val	73	0		118	23	NM_001243689	0	0	0	0	0	A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	CCDS8806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.89|10.89	1.478723|1.478723	0.26511|0.26511	.|.	.|.	ENSG00000050426|ENSG00000050426	ENST00000551931|ENST00000551477;ENST00000550929;ENST00000262055;ENST00000549340;ENST00000550814;ENST00000547660;ENST00000418425;ENST00000547008;ENST00000552739	.|T;T;T;T;T;T;T;T;T	.|0.61158	.|0.91;0.91;0.91;0.91;0.13;0.91;0.91;0.91;0.91	5.21|5.21	5.21|5.21	0.72293|0.72293	.|LETM1-like (1);	.|0.267040	.|0.36482	.|N	.|0.002561	T|T	0.49184|0.49184	0.1542|0.1542	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.47841	.|0.775;0.901;0.607;0.775	.|B;P;B;B	.|0.49085	.|0.306;0.6;0.12;0.306	T|T	0.26395|0.26395	-1.0104|-1.0104	5|10	.|0.17832	.|T	.|0.49	-13.1303|-13.1303	11.4497|11.4497	0.50145|0.50145	0.2761:0.7239:0.0:0.0|0.2761:0.7239:0.0:0.0	.|.	.|322;185;192;309	.|B3KXK7;F8W1Z2;F8VP71;Q6P1Q0	.|.;.;.;LTMD1_HUMAN	M|V	92|276;253;309;259;117;64;322;185;192	.|ENSP00000446862:L276V;ENSP00000450163:L253V;ENSP00000262055:L309V;ENSP00000449896:L259V;ENSP00000448222:L117V;ENSP00000450391:L64V;ENSP00000389903:L322V;ENSP00000447419:L185V;ENSP00000450333:L192V	.|ENSP00000262055:L309V	I|L	+|+	3|1	3|0	LETMD1|LETMD1	49738091|49738091	0.650000|0.650000	0.27331|0.27331	0.995000|0.995000	0.50966|0.50966	0.961000|0.961000	0.63080|0.63080	0.714000|0.714000	0.25808|0.25808	2.871000|2.871000	0.98454|0.98454	0.655000|0.655000	0.94253|0.94253	ATC|CTC	.		0.408	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416	
KRT8	3856	broad.mit.edu	37	12	53298675	53298675	+	Missense_Mutation	SNP	A	A	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:53298675A>C	ENST00000552551.1	-	2	523	c.91T>G	c.(91-93)Tcc>Gcc	p.S31A	KRT8_ENST00000293308.6_Missense_Mutation_p.S31A|KRT8_ENST00000546897.1_Missense_Mutation_p.S31A|KRT8_ENST00000552150.1_Missense_Mutation_p.S59A			P05787	K2C8_HUMAN	keratin 8	31	Head.|Ser-rich.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)	p.S31A(4)		endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	CTGATGCGGGAACCGGGCCCA	0.662																																					p.S59A		.											.	KRT8-92	4	Substitution - Missense(4)	endometrium(2)|prostate(1)|liver(1)	c.T175G						.						12.0	14.0	13.0					12																	53298675		2120	4158	6278	SO:0001583	missense	3856	exon2			TGCGGGAACCGGG	BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.91T>G	12.37:g.53298675A>C	ENSP00000447566:p.Ser31Ala	40	0		108	7	NM_001256282	0	0	0	0	0	A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Missense_Mutation	SNP	ENST00000552551.1	37	CCDS8841.1	.	.	.	.	.	.	.	.	.	.	-	0.012	-1.651707	0.00785	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000547916;ENST00000546897;ENST00000552150;ENST00000546826;ENST00000548998;ENST00000547413;ENST00000546542	T;T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	4.05	-8.11	0.01082	.	0.706613	0.13676	N	0.370518	T	0.40619	0.1124	N	0.01197	-0.965	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.43589	-0.9382	10	0.05351	T	0.99	.	6.5956	0.22672	0.4212:0.312:0.0:0.2668	.	59;31;31	F8VXB4;F8VU64;P05787	.;.;K2C8_HUMAN	A	31;31;31;31;59;31;71;31;109	ENSP00000447566:S31A;ENSP00000293308:S31A;ENSP00000447402:S31A;ENSP00000449404:S59A;ENSP00000447881:S31A;ENSP00000447040:S71A;ENSP00000448681:S31A;ENSP00000450228:S109A	ENSP00000293308:S31A	S	-	1	0	KRT8	51584942	0.005000	0.15991	0.000000	0.03702	0.065000	0.16274	-0.018000	0.12568	-3.264000	0.00201	-0.290000	0.09829	TCC	.		0.662	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1	NM_002273	
LRP1	4035	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	57594933	57594933	+	Missense_Mutation	SNP	T	T	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:57594933T>A	ENST00000243077.3	+	65	10808	c.10342T>A	c.(10342-10344)Tgc>Agc	p.C3448S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3448	LDL-receptor class A 23. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGAGAGGGACTGCCGTGAGTG	0.582																																					p.C3448S		.											.	LRP1-596	0			c.T10342A						.						186.0	161.0	169.0					12																	57594933		2203	4300	6503	SO:0001583	missense	4035	exon65			AGGGACTGCCGTG	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10342T>A	12.37:g.57594933T>A	ENSP00000243077:p.Cys3448Ser	82	0		148	12	NM_002332	0	0	0	0	0	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	T	33	5.204228	0.95033	.	.	ENSG00000123384	ENST00000243077;ENST00000555124	D;T	0.99919	-8.0;0.18	5.38	5.38	0.77491	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99937	0.9972	H	0.95850	3.73	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.96020	0.9008	10	0.62326	D	0.03	.	14.5525	0.68078	0.0:0.0:0.0:1.0	.	3448	Q07954	LRP1_HUMAN	S	3448;15	ENSP00000243077:C3448S;ENSP00000451012:C15S	ENSP00000243077:C3448S	C	+	1	0	LRP1	55881200	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	7.771000	0.85420	2.276000	0.75962	0.454000	0.30748	TGC	.		0.582	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
SLC26A10	65012	broad.mit.edu	37	12	58015619	58015619	+	Silent	SNP	C	C	T	rs184174469	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:58015619C>T	ENST00000320442.4	+	4	1013	c.702C>T	c.(700-702)gtC>gtT	p.V234V	SLC26A10_ENST00000379218.2_Silent_p.V234V|AC025165.8_ENST00000593846.1_RNA	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	234						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CGGGGGAAGTCGTCTTGGTGA	0.687											OREG0021948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	18	0.00359425	0.0	0.0	5008	,	,		15370	0.0179		0.0	False		,,,				2504	0.0				p.V234V		.											.	SLC26A10-531	0			c.C702T						.						19.0	22.0	21.0					12																	58015619		2194	4293	6487	SO:0001819	synonymous_variant	65012	exon4			GGAAGTCGTCTTG		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.702C>T	12.37:g.58015619C>T		58	0	1027	213	4	NM_133489	0	0	0	0	0	A6NMJ2|B6ZDQ3|Q6ZWI7	Silent	SNP	ENST00000320442.4	37	CCDS8949.2																																																																																			C|0.994;T|0.006		0.687	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2		
CAND1	55832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	67691276	67691276	+	Missense_Mutation	SNP	G	G	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:67691276G>C	ENST00000545606.1	+	5	1018	c.581G>C	c.(580-582)aGa>aCa	p.R194T		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	194					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GTGAGGAAAAGAACCATTATC	0.393																																					p.R194T		.											.	CAND1-516	0			c.G581C						.						154.0	151.0	152.0					12																	67691276		2203	4300	6503	SO:0001583	missense	55832	exon5			GGAAAAGAACCAT		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.581G>C	12.37:g.67691276G>C	ENSP00000442318:p.Arg194Thr	112	0		102	20	NM_018448	0	0	0	0	0	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885143	0.91814	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047	T	0.34472	1.36	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70011	0.3175	M	0.92923	3.36	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.77175	-0.2684	9	.	.	.	-14.6833	19.6379	0.95744	0.0:0.0:1.0:0.0	.	194	Q86VP6	CAND1_HUMAN	T	194;194;36	ENSP00000442318:R194T	.	R	+	2	0	CAND1	65977543	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.827000	0.99397	2.657000	0.90304	0.655000	0.94253	AGA	.		0.393	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448	
CCER1	196477	broad.mit.edu	37	12	91347423	91347423	+	Missense_Mutation	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:91347423G>A	ENST00000358859.2	-	1	1530	c.1097C>T	c.(1096-1098)tCa>tTa	p.S366L	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	366	Glu-rich.																TACGAAGATTGATAAAGGCAT	0.473																																					p.S366L		.											.	.	0			c.C1097T						.						149.0	143.0	145.0					12																	91347423		2203	4300	6503	SO:0001583	missense	196477	exon1			AAGATTGATAAAG	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.1097C>T	12.37:g.91347423G>A	ENSP00000351727:p.Ser366Leu	132	0		111	4	NM_152638	0	0	0	0	0	Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.468875	0.26335	.	.	ENSG00000197651	ENST00000358859	T	0.24908	1.83	4.97	4.97	0.65823	.	0.000000	0.28730	N	0.014336	T	0.35422	0.0931	L	0.27053	0.805	0.09310	N	1	D	0.67145	0.996	D	0.64776	0.929	T	0.11275	-1.0594	10	0.72032	D	0.01	-6.9436	13.9755	0.64271	0.0:0.0:1.0:0.0	.	366	Q8TC90	CL012_HUMAN	L	366	ENSP00000351727:S366L	ENSP00000351727:S366L	S	-	2	0	C12orf12	89871554	0.745000	0.28261	0.266000	0.24541	0.123000	0.20343	2.725000	0.47294	2.746000	0.94184	0.585000	0.79938	TCA	.		0.473	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638	
AMDHD1	144193	hgsc.bcm.edu	37	12	96337183	96337183	+	Missense_Mutation	SNP	A	A	G	rs7955450	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:96337183A>G	ENST00000266736.2	+	1	113	c.7A>G	c.(7-9)Agc>Ggc	p.S3G	CCDC38_ENST00000546386.1_5'Flank|CCDC38_ENST00000344280.3_5'Flank|CCDC38_ENST00000549752.1_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	3			S -> G (in dbSNP:rs7955450). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15221005, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16541075}.		cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CGACATGGCAAGCGGCCACAG	0.736													G|||	3598	0.71845	0.702	0.6888	5008	,	,		10480	0.9554		0.6004	False		,,,				2504	0.6391				p.S3G		.											.	AMDHD1-90	0			c.A7G						.						2.0	3.0	3.0					12																	96337183		1177	2379	3556	SO:0001583	missense	144193	exon1			ATGGCAAGCGGCC	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.7A>G	12.37:g.96337183A>G	ENSP00000266736:p.Ser3Gly	0	0		13	13	NM_152435	0	0	0	0	0	A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	CCDS9057.1	1561	0.7147435897435898	348	0.7073170731707317	233	0.643646408839779	540	0.9440559440559441	440	0.5804749340369393	G	5.553	0.286982	0.10513	.	.	ENSG00000139344	ENST00000266736	T	0.30714	1.52	4.39	-8.69	0.00855	.	0.734274	0.13810	N	0.361153	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	0.28427	-1.0044	9	0.21540	T	0.41	.	1.8829	0.03231	0.44:0.0902:0.1959:0.2739	rs7955450;rs17856824;rs58541549;rs7955450	3	Q96NU7	HUTI_HUMAN	G	3	ENSP00000266736:S3G	ENSP00000266736:S3G	S	+	1	0	AMDHD1	94861314	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.592000	0.05747	-2.316000	0.00645	-1.140000	0.01884	AGC	A|0.273;G|0.727		0.736	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435	
AMDHD1	144193	hgsc.bcm.edu	37	12	96337225	96337225	+	Silent	SNP	C	C	T	rs1436121	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:96337225C>T	ENST00000266736.2	+	1	155	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	CCDC38_ENST00000546386.1_5'Flank|CCDC38_ENST00000344280.3_5'Flank|CCDC38_ENST00000549752.1_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	17					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GCAAGTGGTGCTGGTGTGCGC	0.741													C|||	1276	0.254792	0.09	0.1297	5008	,	,		11076	0.4732		0.2445	False		,,,				2504	0.3517				p.L17L		.											.	AMDHD1-90	0			c.C49T						.	C		259,2703		9,241,1231	3.0	4.0	4.0		49	1.4	1.0	12	dbSNP_88	4	983,4553		75,833,1860	no	coding-synonymous	AMDHD1	NM_152435.2		84,1074,3091	TT,TC,CC		17.7565,8.7441,14.6152		17/427	96337225	1242,7256	1481	2768	4249	SO:0001819	synonymous_variant	144193	exon1			GTGGTGCTGGTGT	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.49C>T	12.37:g.96337225C>T		0	0		21	18	NM_152435	0	0	0	0	0	A8K463|Q68CI8	Silent	SNP	ENST00000266736.2	37	CCDS9057.1																																																																																			C|0.752;T|0.248		0.741	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435	
PAH	5053	broad.mit.edu;bcgsc.ca	37	12	103306614	103306614	+	Silent	SNP	G	G	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:103306614G>T	ENST00000553106.1	-	2	595	c.123C>A	c.(121-123)ctC>ctA	p.L41L	PAH_ENST00000307000.2_Silent_p.L36L|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	41	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.		L -> F (in PKU).|L -> P (in PKU; mild).		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTTCTTCTTTGAGTGAGAAGA	0.378																																					p.L41L		.											.	PAH-72	0			c.C123A						.						227.0	194.0	205.0					12																	103306614		2203	4300	6503	SO:0001819	synonymous_variant	5053	exon2			TTCTTTGAGTGAG	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.123C>A	12.37:g.103306614G>T		230	3		232	10	NM_000277	0	0	0	0	0	Q16717|Q8TC14	Silent	SNP	ENST00000553106.1	37	CCDS9092.1																																																																																			.		0.378	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1		
FAM109A	144717	hgsc.bcm.edu	37	12	111800570	111800570	+	Missense_Mutation	SNP	A	A	G	rs564558968		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:111800570A>G	ENST00000547838.2	-	2	759	c.662T>C	c.(661-663)aTg>aCg	p.M221T	FAM109A_ENST00000450786.2_Missense_Mutation_p.W202R|FAM109A_ENST00000548163.1_Missense_Mutation_p.M221T|FAM109A_ENST00000392658.5_Missense_Mutation_p.M221T|FAM109A_ENST00000361483.3_Missense_Mutation_p.M234T			Q8N4B1	SESQ1_HUMAN	family with sequence similarity 109, member A	221	Pro-rich.				endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|lung(1)|ovary(1)	4						GAAGGGGGCCATGTCCAGGGG	0.741													A|||	1	0.000199681	0.0	0.0	5008	,	,		11754	0.0		0.001	False		,,,				2504	0.0				p.M234T		.											.	FAM109A-90	0			c.T701C						.																																			SO:0001583	missense	144717	exon4			GGGGCCATGTCCA	BC034809	CCDS9152.1, CCDS53833.1	12q24.12	2013-01-10			ENSG00000198324	ENSG00000198324		"""Pleckstrin homology (PH) domain containing"""	26509	protein-coding gene	gene with protein product		614239				12477932	Standard	NM_144671		Approved	FLJ32356	uc009zvu.3	Q8N4B1	OTTHUMG00000169547	ENST00000547838.2:c.662T>C	12.37:g.111800570A>G	ENSP00000447353:p.Met221Thr	1	0		23	10	NM_001177996	0	0	0	0	0	J3KP50|Q6PJL9|Q96MH8	Missense_Mutation	SNP	ENST00000547838.2	37	CCDS9152.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.024|0.024	-1.392076|-1.392076	0.01185|0.01185	.|.	.|.	ENSG00000198324|ENSG00000198324	ENST00000547838;ENST00000361483;ENST00000392658;ENST00000548163|ENST00000450786	T;T;T;T|.	0.26518|.	1.73;1.75;1.73;1.73|.	4.14|4.14	1.07|1.07	0.20283|0.20283	.|.	.|.	.|.	.|.	.|.	T|T	0.17577|0.17577	0.0422|0.0422	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|B	0.02656|0.02656	0.0;0.0|0.0	B;B|B	0.01281|0.04013	0.0;0.0|0.001	T|T	0.20739|0.20739	-1.0266|-1.0266	9|8	0.02654|0.87932	T|D	1|0	.|.	5.0701|5.0701	0.14602|0.14602	0.2642:0.1502:0.5856:0.0|0.2642:0.1502:0.5856:0.0	.|.	221;218|202	Q8N4B1;B4DRN3|G3V0F1	SESQ1_HUMAN;.|.	T|R	221;234;221;221|202	ENSP00000447353:M221T;ENSP00000354461:M234T;ENSP00000376426:M221T;ENSP00000449994:M221T|.	ENSP00000354461:M234T|ENSP00000390552:W202R	M|W	-|-	2|1	0|0	FAM109A|FAM109A	110284953|110284953	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.107000|0.107000	0.19398|0.19398	-0.507000|-0.507000	0.06352|0.06352	-0.099000|-0.099000	0.12263|0.12263	-0.366000|-0.366000	0.07423|0.07423	ATG|TGG	.		0.741	FAM109A-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404768.2	NM_144671	
RNFT2	84900	hgsc.bcm.edu	37	12	117187907	117187907	+	Silent	SNP	T	T	C	rs111256849	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:117187907T>C	ENST00000257575.4	+	4	578	c.345T>C	c.(343-345)caT>caC	p.H115H	RNFT2_ENST00000407967.3_Silent_p.H115H|RNFT2_ENST00000319176.7_Silent_p.H115H|RNFT2_ENST00000392549.2_Silent_p.H115H			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	115	His-rich.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CCCACCACCATTTCCACCATG	0.746													C|||	1284	0.25639	0.4826	0.1326	5008	,	,		12011	0.1786		0.166	False		,,,				2504	0.2117				p.H115H		.											.	.	0			c.T345C						.	C	,	1295,2539		234,827,856	3.0	4.0	4.0		345,345	3.2	1.0	12	dbSNP_132	4	888,6786		67,754,3016	no	coding-synonymous,coding-synonymous	RNFT2	NM_001109903.1,NM_032814.3	,	301,1581,3872	CC,CT,TT		11.5715,33.7767,18.9694	,	115/445,115/421	117187907	2183,9325	1917	3837	5754	SO:0001819	synonymous_variant	84900	exon4			CCACCATTTCCAC	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"""RING-type (C3HC4) zinc fingers"""	25905	protein-coding gene	gene with protein product			"""transmembrane protein 118"""	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.345T>C	12.37:g.117187907T>C		1	0		19	14	NM_001109903	0	0	0	0	0	E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	CCDS44987.1																																																																																			T|0.767;C|0.233		0.746	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814	
RFC5	5985	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	118454660	118454660	+	Missense_Mutation	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:118454660G>A	ENST00000454402.2	+	1	146	c.28G>A	c.(28-30)Gag>Aag	p.E10K	RFC5_ENST00000229043.3_5'UTR|RFC5_ENST00000392542.2_5'UTR	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	10					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAAGCAGCAGGAGCAGCCCGC	0.701																																					p.E10K		.											.	RFC5-227	0			c.G28A						.						24.0	25.0	25.0					12																	118454660		2196	4298	6494	SO:0001583	missense	5985	exon1			CAGCAGGAGCAGC		CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.28G>A	12.37:g.118454660G>A	ENSP00000408295:p.Glu10Lys	103	1		176	43	NM_007370	0	0	0	0	0	A8MZ62|B3KSX8	Missense_Mutation	SNP	ENST00000454402.2	37	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	G	9.981	1.228043	0.22542	.	.	ENSG00000111445	ENST00000454402	T	0.13901	2.55	4.05	2.17	0.27698	.	0.977578	0.08358	N	0.958171	T	0.07098	0.0180	N	0.08118	0	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.007	T	0.26916	-1.0089	10	0.06236	T	0.91	17.0228	12.1044	0.53803	0.0:0.4806:0.5194:0.0	.	24;10	Q59GW7;P40937	.;RFC5_HUMAN	K	10	ENSP00000408295:E10K	ENSP00000408295:E10K	E	+	1	0	RFC5	116939043	0.997000	0.39634	0.679000	0.29978	0.217000	0.24651	0.963000	0.29293	0.458000	0.26988	-0.304000	0.09214	GAG	.		0.701	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370	
STX2	2054	broad.mit.edu	37	12	131285773	131285773	+	Silent	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:131285773G>A	ENST00000392373.2	-	8	694	c.600C>T	c.(598-600)gaC>gaT	p.D200D	STX2_ENST00000261653.6_Silent_p.D200D	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	200	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		GCTTCATGATGTCCTTGTGAC	0.378																																					p.D200D		.											.	STX2-90	0			c.C600T						.						138.0	118.0	125.0					12																	131285773		2203	4300	6503	SO:0001819	synonymous_variant	2054	exon8			CATGATGTCCTTG	D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"""epimorphin"""	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.600C>T	12.37:g.131285773G>A		100	0		141	5	NM_194356	0	0	0	0	0	Q86VW8	Silent	SNP	ENST00000392373.2	37	CCDS9270.1																																																																																			.		0.378	STX2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399455.2	NM_194356	
FBRSL1	57666	hgsc.bcm.edu	37	12	133159733	133159733	+	Missense_Mutation	SNP	C	C	T	rs11550079	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:133159733C>T	ENST00000434748.2	+	17	3527	c.2507C>T	c.(2506-2508)gCc>gTc	p.A836V	FBRSL1_ENST00000261673.6_Missense_Mutation_p.A763V	NM_001142641.1	NP_001136113.1	Q9HCM7	FBSL_HUMAN	fibrosin-like 1	836				A -> V (in Ref. 3; BAB13371). {ECO:0000305}.			poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(1)|stomach(1)	4						AAGGAGGAGGCCGCCAAGATG	0.761													C|||	2725	0.544129	0.4939	0.6225	5008	,	,		5355	0.7113		0.4026	False		,,,				2504	0.5297				p.A836V		.											.	FBRSL1-70	0			c.C2507T						.						2.0	6.0	5.0					12																	133159733		475	1282	1757	SO:0001583	missense	57666	exon17			AGGAGGCCGCCAA		CCDS45010.1	12q24.33	2008-12-09			ENSG00000112787	ENSG00000112787			29308	protein-coding gene	gene with protein product						10997877	Standard	NM_001142641		Approved	KIAA1545	uc001ukf.3	Q9HCM7	OTTHUMG00000167991	ENST00000434748.2:c.2507C>T	12.37:g.133159733C>T	ENSP00000396160:p.Ala836Val	0	0		9	4	NM_001142641	0	0	0	0	0	Q86XQ1	Missense_Mutation	SNP	ENST00000434748.2	37	CCDS45010.1	1159	0.5306776556776557	248	0.5040650406504065	211	0.5828729281767956	393	0.6870629370629371	307	0.4050131926121372	c	9.709	1.156573	0.21454	.	.	ENSG00000112787	ENST00000434748;ENST00000261673	T;T	0.31769	1.48;1.49	3.17	-0.242	0.13039	.	0.664906	0.15256	U	0.272063	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	P	0.44627	0.839	B	0.40134	0.32	T	0.26677	-1.0096	9	0.45353	T	0.12	-3.3224	5.7681	0.18237	0.1838:0.5714:0.2447:0.0	rs11550079	836	Q9HCM7	FBSL_HUMAN	V	836;763	ENSP00000396160:A836V;ENSP00000261673:A763V	ENSP00000261673:A763V	A	+	2	0	FBRSL1	131669806	0.317000	0.24589	0.004000	0.12327	0.011000	0.07611	0.750000	0.26334	0.431000	0.26258	-0.720000	0.03607	GCC	C|0.470;T|0.530		0.761	FBRSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397404.2		
MTUS2	23281	bcgsc.ca	37	13	29599410	29599410	+	Missense_Mutation	SNP	C	C	T	rs116224145	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr13:29599410C>T	ENST00000431530.3	+	1	663	c.605C>T	c.(604-606)cCg>cTg	p.P202L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	192						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.P202L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCCTGACTCCGCAGCATCCA	0.582													C|||	157	0.0313498	0.0265	0.0159	5008	,	,		15906	0.0675		0.0278	False		,,,				2504	0.0153				p.P202L		.											.	MTUS2-218	1	Substitution - Missense(1)	NS(1)	c.C605T						.	C	LEU/PRO	116,4124		1,114,2005	36.0	42.0	40.0		605	-10.2	0.0	13	dbSNP_132	40	142,8334		1,140,4097	yes	missense	MTUS2	NM_001033602.2	98	2,254,6102	TT,TC,CC		1.6753,2.7358,2.0289	benign	202/1380	29599410	258,12458	2120	4238	6358	SO:0001583	missense	23281	exon1			TGACTCCGCAGCA	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.605C>T	13.37:g.29599410C>T	ENSP00000392057:p.Pro202Leu	137	0		98	5	NM_001033602	0	0	0	0	0	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	67	0.030677655677655676	12	0.024390243902439025	8	0.022099447513812154	25	0.043706293706293704	22	0.029023746701846966	c	4.445	0.082414	0.08533	0.027358	0.016753	ENSG00000132938	ENST00000431530	T	0.11169	2.8	5.18	-10.2	0.00374	.	2.838500	0.01252	N	0.008901	T	0.00967	0.0032	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29336	-1.0015	9	.	.	.	.	2.181	0.03874	0.3365:0.2554:0.3043:0.1038	.	192	Q5JR59	MTUS2_HUMAN	L	202	ENSP00000392057:P202L	.	P	+	2	0	MTUS2	28497410	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.786000	0.04623	-1.796000	0.01253	-1.633000	0.00780	CCG	C|0.972;T|0.028		0.582	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
ERICH6B	220081	hgsc.bcm.edu	37	13	46170726	46170726	+	Missense_Mutation	SNP	A	A	G	rs28548352|rs142875900|rs375947127	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr13:46170726A>G	ENST00000298738.2	-	3	579	c.415T>C	c.(415-417)Tat>Cat	p.Y139H		NM_182542.2	NP_872348.2	Q5W0A0	ERI6B_HUMAN		139	Glu-rich.									breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)	5						TTCCCCAGATActcttcctcc	0.488																																					p.Y139H		.											.	FAM194B-68	0			c.T415C						.						134.0	79.0	95.0					13																	46170726		692	1566	2258	SO:0001583	missense	220081	exon3			CCAGATACTCTTC																												ENST00000298738.2:c.415T>C	13.37:g.46170726A>G	ENSP00000298738:p.Tyr139His	80	0		40	6	NM_182542	0	0	0	0	0	Q96MB5	Missense_Mutation	SNP	ENST00000298738.2	37	CCDS45045.1	.	.	.	.	.	.	.	.	.	.	A	3.562	-0.089484	0.07053	.	.	ENSG00000165837	ENST00000298738	T	0.06294	3.32	2.4	-0.599	0.11645	.	.	.	.	.	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B;B	0.27594	0.182;0.071	B;B	0.26310	0.068;0.009	T	0.43925	-0.9361	9	0.87932	D	0	0.4727	0.1132	0.00058	0.3431:0.2385:0.1823:0.236	rs28548352	139;139	A2VDI6;Q5W0A0	.;F194B_HUMAN	H	139	ENSP00000298738:Y139H	ENSP00000298738:Y139H	Y	-	1	0	FAM194B	45068727	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-6.553000	0.00061	0.160000	0.19432	0.358000	0.22013	TAT	.		0.488	FAM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044781.3		
ERICH6B	220081	hgsc.bcm.edu	37	13	46170735	46170735	+	Missense_Mutation	SNP	C	C	T	rs142875900|rs28460344|rs375947127	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr13:46170735C>T	ENST00000298738.2	-	3	570	c.406G>A	c.(406-408)Gag>Aag	p.E136K		NM_182542.2	NP_872348.2	Q5W0A0	ERI6B_HUMAN		136	Glu-rich.									breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)	5						TActcttcctcctccagatgc	0.483													C|||	1385	0.276558	0.1362	0.4308	5008	,	,		19628	0.1627		0.494	False		,,,				2504	0.2505				p.E136K		.											.	FAM194B-68	0			c.G406A						.						134.0	78.0	95.0					13																	46170735		692	1565	2257	SO:0001583	missense	220081	exon3			CTTCCTCCTCCAG																												ENST00000298738.2:c.406G>A	13.37:g.46170735C>T	ENSP00000298738:p.Glu136Lys	79	0		41	7	NM_182542	0	0	0	0	0	Q96MB5	Missense_Mutation	SNP	ENST00000298738.2	37	CCDS45045.1	.	.	.	.	.	.	.	.	.	.	C	8.526	0.869929	0.17322	.	.	ENSG00000165837	ENST00000298738	T	0.06142	3.34	2.1	0.141	0.14811	.	.	.	.	.	T	0.02571	0.0078	N	0.02539	-0.55	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.002;0.001	T	0.43015	-0.9417	9	0.87932	D	0	-1.9096	5.6342	0.17528	0.0:0.5396:0.0:0.4604	rs28460344	136;136	A2VDI6;Q5W0A0	.;F194B_HUMAN	K	136	ENSP00000298738:E136K	ENSP00000298738:E136K	E	-	1	0	FAM194B	45068736	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.079000	0.14782	-0.180000	0.10637	-1.380000	0.01176	GAG	.		0.483	FAM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044781.3		
ERICH6B	220081	hgsc.bcm.edu	37	13	46170737	46170737	+	Missense_Mutation	SNP	T	T	C	rs142875900|rs375947127|rs117004691	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr13:46170737T>C	ENST00000298738.2	-	3	568	c.404A>G	c.(403-405)gAg>gGg	p.E135G		NM_182542.2	NP_872348.2	Q5W0A0	ERI6B_HUMAN		135	Glu-rich.									breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)	5						ctcttcctcctccagatgctc	0.493													T|||	1383	0.276158	0.1362	0.4308	5008	,	,		19669	0.1607		0.494	False		,,,				2504	0.2505				p.E135G		.											.	FAM194B-68	0			c.A404G						.						133.0	77.0	94.0					13																	46170737		692	1565	2257	SO:0001583	missense	220081	exon3			TCCTCCTCCAGAT																												ENST00000298738.2:c.404A>G	13.37:g.46170737T>C	ENSP00000298738:p.Glu135Gly	78	0		42	7	NM_182542	0	0	0	0	0	Q96MB5	Missense_Mutation	SNP	ENST00000298738.2	37	CCDS45045.1	.	.	.	.	.	.	.	.	.	.	T	8.448	0.852491	0.17106	.	.	ENSG00000165837	ENST00000298738	T	0.06608	3.28	2.24	-2.01	0.07410	.	.	.	.	.	T	0.04137	0.0115	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40534	-0.9558	9	0.87932	D	0	-2.345	6.5075	0.22204	0.0:0.4358:0.0:0.5642	.	135;135	A2VDI6;Q5W0A0	.;F194B_HUMAN	G	135	ENSP00000298738:E135G	ENSP00000298738:E135G	E	-	2	0	FAM194B	45068738	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.707000	0.05041	-0.286000	0.09076	-1.636000	0.00776	GAG	.		0.493	FAM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044781.3		
DLEU7	220107	hgsc.bcm.edu	37	13	51417535	51417535	+	Missense_Mutation	SNP	G	G	A	rs898861	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr13:51417535G>A	ENST00000504404.1	-	1	297	c.248C>T	c.(247-249)gCg>gTg	p.A83V	DLEU7-AS1_ENST00000413510.2_RNA|DLEU7_ENST00000400393.3_Missense_Mutation_p.A83V			Q6UYE1	LEU7_HUMAN	deleted in lymphocytic leukemia, 7	83			A -> V (in dbSNP:rs898861). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.										Acute lymphoblastic leukemia(7;1.03e-07)|Lung NSC(96;0.000818)|Breast(56;0.00122)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.25e-08)		TGGGGAGTTCGCCCGCGCCGC	0.811													G|||	885	0.176717	0.0968	0.1888	5008	,	,		8444	0.2917		0.1988	False		,,,				2504	0.135				p.A83V		.											.	.	0			c.C248T						.	G	VAL/ALA	212,2568		7,198,1185	2.0	3.0	3.0		248	1.8	0.0	13	dbSNP_86	3	970,5336		43,884,2226	yes	missense	DLEU7	NM_198989.2	64	50,1082,3411	AA,AG,GG		15.3822,7.6259,13.009	possibly-damaging	83/161	51417535	1182,7904	1390	3153	4543	SO:0001583	missense	220107	exon1			GAGTTCGCCCGCG	AK126830	CCDS53869.1	13q14.3	2005-02-22			ENSG00000186047	ENSG00000186047			17567	protein-coding gene	gene with protein product						14706829	Standard	NM_198989		Approved	FLJ44882	uc001vex.2	Q6UYE1	OTTHUMG00000016936	ENST00000504404.1:c.248C>T	13.37:g.51417535G>A	ENSP00000427177:p.Ala83Val	0	0		7	6	NM_198989	0	0	0	0	0	Q2M2E4|Q6ZT82	Missense_Mutation	SNP	ENST00000504404.1	37		458	0.2097069597069597	57	0.11585365853658537	67	0.1850828729281768	188	0.32867132867132864	146	0.19261213720316622	G	11.22	1.574237	0.28092	0.076259	0.153822	ENSG00000186047	ENST00000400393;ENST00000504404;ENST00000335465	T;T	0.49139	0.79;0.82	2.72	1.81	0.25067	.	0.342483	0.19746	U	0.107012	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	B;B	0.28026	0.198;0.198	B;B	0.25506	0.061;0.061	T	0.32587	-0.9901	9	0.07175	T	0.84	.	5.0335	0.14423	0.0:0.2383:0.5179:0.2437	rs898861;rs12869977	83;83	Q6UYE1;Q6UYE1-2	LEU7_HUMAN;.	V	83;83;36	ENSP00000420976:A83V;ENSP00000427177:A83V	ENSP00000439677:A36V	A	-	2	0	DLEU7	50315536	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.065000	0.14466	0.650000	0.30769	0.491000	0.48974	GCG	G|0.789;A|0.211		0.811	DLEU7-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000045005.2	NM_198989	
SLITRK6	84189	hgsc.bcm.edu	37	13	86369481	86369481	+	Missense_Mutation	SNP	G	G	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr13:86369481G>T	ENST00000400286.2	-	2	1761	c.1163C>A	c.(1162-1164)aCt>aAt	p.T388N		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	388					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CATTTCCAAAGTGAAATATTC	0.358																																					p.T388N		.											.	SLITRK6-137	0			c.C1163A						.						71.0	65.0	67.0					13																	86369481		1839	4089	5928	SO:0001583	missense	84189	exon2			TCCAAAGTGAAAT	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1163C>A	13.37:g.86369481G>T	ENSP00000383143:p.Thr388Asn	126	0		68	4	NM_032229	0	0	0	0	0	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	8.884	0.952271	0.18431	.	.	ENSG00000184564	ENST00000400286	T	0.01947	4.54	5.76	4.9	0.64082	.	0.231644	0.33040	U	0.005341	T	0.00845	0.0028	N	0.00569	-1.365	0.32608	N	0.52502	B	0.02656	0.0	B	0.09377	0.004	T	0.31420	-0.9944	10	0.21014	T	0.42	-9.0543	9.0828	0.36563	0.0:0.1422:0.5641:0.2937	.	388	Q9H5Y7	SLIK6_HUMAN	N	388	ENSP00000383143:T388N	ENSP00000383143:T388N	T	-	2	0	SLITRK6	85267482	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.237000	0.51344	1.396000	0.46663	0.585000	0.79938	ACT	.		0.358	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229	
CCDC168	643677	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	103389045	103389045	+	Missense_Mutation	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr13:103389045C>T	ENST00000322527.2	-	1	114	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	39																	ACCTGCAGTTCCTTTGTTTTT	0.398																																					p.E4668K		.											.	.	0			c.G14002A						.						320.0	249.0	270.0					13																	103389045		692	1591	2283	SO:0001583	missense	643677	exon4			GCAGTTCCTTTGT		CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.115G>A	13.37:g.103389045C>T	ENSP00000320232:p.Glu39Lys	35	0		24	6	NM_001146197	0	0	0	0	0	Q8N800	Missense_Mutation	SNP	ENST00000322527.2	37		.	.	.	.	.	.	.	.	.	.	C	0.578	-0.838339	0.02692	.	.	ENSG00000175820	ENST00000322527	T	0.03468	3.92	4.1	-3.59	0.04583	.	1.555830	0.04046	N	0.303976	T	0.01387	0.0045	N	0.01267	-0.92	0.09310	N	1	B	0.12630	0.006	B	0.15484	0.013	T	0.47018	-0.9149	10	0.05525	T	0.97	.	10.1611	0.42853	0.0:0.5899:0.0:0.4101	.	39	Q8NDH2	CC168_HUMAN	K	39	ENSP00000320232:E39K	ENSP00000320232:E39K	E	-	1	0	CCDC168	102187046	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.615000	0.05597	-0.593000	0.05844	-0.471000	0.05019	GAA	.		0.398	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001146197	
LINC00283	100874057	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	13	103397964	103397964	+	RNA	SNP	G	G	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr13:103397964G>T	ENST00000430111.1	+	0	3894									long intergenic non-protein coding RNA 283																		TCTGAAAATTGTTTTAAGTTT	0.393																																					p.Q1695K		.											.	.	0			c.C5083A						.						119.0	103.0	108.0					13																	103397964		692	1590	2282			643677	exon4			AAAATTGTTTTAA			13q33.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000231633	ENSG00000231633		"""Long non-coding RNAs"""	38809	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 283"""	NCRNA00283			Standard			Approved				OTTHUMG00000017311		13.37:g.103397964G>T		94	0		23	7	NM_001146197	0	0	0	0	0		Missense_Mutation	SNP	ENST00000430111.1	37																																																																																				.		0.393	LINC00283-001	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000045714.1		
COL4A2	1284	bcgsc.ca	37	13	111111173	111111173	+	Silent	SNP	G	G	A	rs7990214	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr13:111111173G>A	ENST00000360467.5	+	22	1794	c.1488G>A	c.(1486-1488)ccG>ccA	p.P496P	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	496	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AAGGTCTTCCGGGACTGCCAG	0.627													G|||	2461	0.491414	0.6505	0.4942	5008	,	,		18334	0.2232		0.5974	False		,,,				2504	0.4417				p.P496P		.											.	COL4A2-95	0			c.G1488A						.	G		2619,1419		871,877,271	95.0	100.0	99.0		1488	-10.7	0.0	13	dbSNP_116	99	5076,3278		1549,1978,650	no	coding-synonymous	COL4A2	NM_001846.2		2420,2855,921	AA,AG,GG		39.2387,35.1412,37.9035		496/1713	111111173	7695,4697	2019	4177	6196	SO:0001819	synonymous_variant	1284	exon22			TCTTCCGGGACTG	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1488G>A	13.37:g.111111173G>A		183	1		183	7	NM_001846	0	0	0	0	0	Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	CCDS41907.1																																																																																			G|0.463;A|0.537		0.627	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	
COL4A2	1284	bcgsc.ca	37	13	111111235	111111235	+	Missense_Mutation	SNP	G	G	A	rs7990383	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr13:111111235G>A	ENST00000360467.5	+	22	1856	c.1550G>A	c.(1549-1551)aGa>aAa	p.R517K	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	517	Triple-helical region.		R -> K (in dbSNP:rs7990383). {ECO:0000269|PubMed:21527998, ECO:0000269|PubMed:22209247, ECO:0000269|PubMed:3345760}.		angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AAAGGGGACAGAGGAGACCCC	0.607													A|||	2550	0.509185	0.7171	0.5	5008	,	,		18731	0.2232		0.5964	False		,,,				2504	0.4397				p.R517K		.											.	COL4A2-95	0			c.G1550A						.	A	LYS/ARG	2674,1178		945,784,197	41.0	46.0	45.0		1550	-10.1	0.0	13	dbSNP_116	45	5007,3245		1519,1969,638	yes	missense	COL4A2	NM_001846.2	26	2464,2753,835	AA,AG,GG		39.3238,30.5815,36.5416	benign	517/1713	111111235	7681,4423	1926	4126	6052	SO:0001583	missense	1284	exon22			GGGACAGAGGAGA	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1550G>A	13.37:g.111111235G>A	ENSP00000353654:p.Arg517Lys	168	1		163	7	NM_001846	0	0	0	0	0	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	CCDS41907.1	1126	0.5155677655677655	355	0.7215447154471545	203	0.5607734806629834	117	0.20454545454545456	451	0.5949868073878628	A	4.997	0.185066	0.09495	0.694185	0.606762	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.95885	-3.84	5.37	-10.1	0.00402	.	1.354980	0.04859	N	0.443815	T	0.00012	0.0000	N	0.11000	0.08	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.43360	-0.9396	9	0.02654	T	1	.	3.0355	0.06121	0.2229:0.42:0.1878:0.1693	rs7990383;rs17457824;rs52809886;rs7990383	517	P08572	CO4A2_HUMAN	K	517	ENSP00000353654:R517K	ENSP00000257309:R517K	R	+	2	0	COL4A2	109909236	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-1.295000	0.02764	-1.566000	0.01673	-2.620000	0.00156	AGA	G|0.479;A|0.521		0.607	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	
MCF2L	23263	broad.mit.edu	37	13	113719264	113719264	+	Silent	SNP	C	C	T	rs199810332	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr13:113719264C>T	ENST00000375608.3	+	8	769	c.711C>T	c.(709-711)ttC>ttT	p.F237F	MCF2L_ENST00000375604.2_Silent_p.F264F|MCF2L_ENST00000442652.2_Silent_p.F237F|MCF2L_ENST00000423482.2_Silent_p.F205F|MCF2L_ENST00000375601.3_Silent_p.F211F|MCF2L_ENST00000375597.4_Silent_p.F205F|MCF2L_ENST00000421756.1_Silent_p.F211F|MCF2L_ENST00000434480.2_Silent_p.F213F|MCF2L_ENST00000535094.2_Silent_p.F207F|MCF2L_ENST00000397030.1_Silent_p.F240F			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	237					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F211F(2)|p.F264F(2)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCGAAAGTTTCGCCCTCATGG	0.577													C|||	5	0.000998403	0.0	0.0	5008	,	,		20712	0.005		0.0	False		,,,				2504	0.0				p.F207F		.											.	MCF2L-228	4	Substitution - coding silent(4)	lung(4)	c.C621T						.	C	,	1,4405	2.1+/-5.4	0,1,2202	94.0	74.0	81.0		621,615	-4.2	0.1	13		81	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MCF2L	NM_001112732.2,NM_024979.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	207/1126,205/1124	113719264	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23263	exon7			AAGTTTCGCCCTC	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.711C>T	13.37:g.113719264C>T		144	2		187	4	NM_001112732	0	0	0	0	0	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37																																																																																				C|0.999;T|0.001		0.577	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4		
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																					p.L91L		.											.	UPF3A-91	8	Substitution - coding silent(8)	lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)	c.C271T						.						4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110	exon2			CGCCCGCTGCCAG	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T		12	0		59	6	NM_080687	0	0	0	0	0	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	CCDS9543.1																																																																																			.		0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2		
TRIM9	114088	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	51561207	51561207	+	Missense_Mutation	SNP	G	G	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr14:51561207G>T	ENST00000298355.3	-	1	1572	c.451C>A	c.(451-453)Ctg>Atg	p.L151M	TRIM9_ENST00000338969.5_Missense_Mutation_p.L151M|TRIM9_ENST00000360392.4_Missense_Mutation_p.L151M	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	151					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					ACCCCTTCCAGTACGCGATTC	0.647																																					p.L151M		.											.	TRIM9-227	0			c.C451A						.						21.0	23.0	22.0					14																	51561207		2203	4298	6501	SO:0001583	missense	114088	exon1			CTTCCAGTACGCG	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.451C>A	14.37:g.51561207G>T	ENSP00000298355:p.Leu151Met	71	0		136	9	NM_015163	0	0	0	0	0	D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	ENST00000298355.3	37	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139718	0.37728	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.60672	1.84;1.84;0.17	5.14	2.28	0.28536	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.64402	D	0.000005	T	0.63721	0.2535	L	0.45137	1.4	0.36048	D	0.840555	D;D;P	0.89917	1.0;1.0;0.897	D;D;P	0.97110	1.0;1.0;0.593	T	0.65717	-0.6100	10	0.36615	T	0.2	.	8.9189	0.35599	0.2562:0.0:0.7438:0.0	.	151;151;151	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	M	151	ENSP00000298355:L151M;ENSP00000342970:L151M;ENSP00000353561:L151M	ENSP00000298355:L151M	L	-	1	2	TRIM9	50630957	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.588000	0.53964	0.567000	0.29293	0.561000	0.74099	CTG	.		0.647	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163	
LGALS3	3958	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	55611906	55611906	+	Missense_Mutation	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr14:55611906C>T	ENST00000254301.9	+	6	931	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W		NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3	224	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				eosinophil chemotaxis (GO:0048245)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|mononuclear cell migration (GO:0071674)|mRNA processing (GO:0006397)|negative regulation of endocytosis (GO:0045806)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of immunological synapse formation (GO:2000521)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell receptor signaling pathway (GO:0050860)|neutrophil chemotaxis (GO:0030593)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of mononuclear cell migration (GO:0071677)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of T cell apoptotic process (GO:0070232)|regulation of T cell proliferation (GO:0042129)|RNA splicing (GO:0008380)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)	carbohydrate binding (GO:0030246)|chemoattractant activity (GO:0042056)|IgE binding (GO:0019863)|laminin binding (GO:0043236)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|prostate(1)	3						GTACAATCATCGGGTTAAAAA	0.393																																					p.R224W		.											.	LGALS3-514	0			c.C670T						.						131.0	127.0	128.0					14																	55611906		1884	4113	5997	SO:0001583	missense	3958	exon6			AATCATCGGGTTA	M64303	CCDS41956.1	14q22.3	2014-03-19	2007-02-01		ENSG00000131981	ENSG00000131981		"""Lectins, galactoside-binding"", ""Endogenous ligands"""	6563	protein-coding gene	gene with protein product	"""galectin 3"""	153619		LGALS2		2009535, 8063692	Standard	NR_003225		Approved	MAC-2, GALIG	uc001xbr.3	P17931	OTTHUMG00000171030	ENST00000254301.9:c.670C>T	14.37:g.55611906C>T	ENSP00000254301:p.Arg224Trp	113	0		141	39	NM_002306	0	0	0	0	0	B2RC38|Q16005|Q6IBA7|Q96J47	Missense_Mutation	SNP	ENST00000254301.9	37	CCDS41956.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829725	0.50845	.	.	ENSG00000131981	ENST00000254301	T	0.13089	2.62	5.9	5.02	0.67125	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.051183	0.85682	D	0.000000	T	0.51686	0.1689	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65290	-0.6204	10	0.87932	D	0	-6.8355	8.9733	0.35919	0.1474:0.7773:0.0:0.0753	.	224	P17931	LEG3_HUMAN	W	224	ENSP00000254301:R224W	ENSP00000254301:R224W	R	+	1	2	LGALS3	54681659	1.000000	0.71417	0.997000	0.53966	0.233000	0.25261	3.321000	0.51999	1.519000	0.48950	-0.136000	0.14681	CGG	.		0.393	LGALS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411309.1	NM_002306	
CEP128	145508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	81259439	81259439	+	Missense_Mutation	SNP	G	G	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr14:81259439G>C	ENST00000555265.1	-	14	1600	c.1225C>G	c.(1225-1227)Ctg>Gtg	p.L409V	CEP128_ENST00000281129.3_Missense_Mutation_p.L409V			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	409						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CCATTCTCCAGTTCACGTGTT	0.403																																					p.L409V		.											.	CEP128-91	0			c.C1225G						.						123.0	115.0	118.0					14																	81259439		2203	4300	6503	SO:0001583	missense	145508	exon13			TCTCCAGTTCACG	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1225C>G	14.37:g.81259439G>C	ENSP00000451162:p.Leu409Val	78	0		85	20	NM_152446	0	0	0	0	0	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	G	7.704	0.693798	0.15039	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.47177	0.85;0.85	5.51	1.91	0.25777	.	0.101366	0.39687	N	0.001300	T	0.55609	0.1931	L	0.60455	1.87	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	T	0.50355	-0.8838	10	0.45353	T	0.12	.	4.8203	0.13387	0.5443:0.0:0.3216:0.134	.	409	Q6ZU80	CE128_HUMAN	V	409	ENSP00000281129:L409V;ENSP00000451162:L409V	ENSP00000281129:L409V	L	-	1	2	CEP128	80329192	0.998000	0.40836	0.448000	0.26945	0.027000	0.11550	1.595000	0.36708	0.078000	0.16900	-0.806000	0.03193	CTG	.		0.403	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446	
UNC79	57578	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	93962775	93962775	+	Missense_Mutation	SNP	T	T	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr14:93962775T>A	ENST00000393151.2	+	6	731	c.731T>A	c.(730-732)cTg>cAg	p.L244Q	UNC79_ENST00000555664.1_Missense_Mutation_p.L244Q|UNC79_ENST00000256339.4_Missense_Mutation_p.L67Q|UNC79_ENST00000553484.1_Missense_Mutation_p.L244Q			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	244					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGTCAATTACTGGAATGCCTC	0.274																																					p.L67Q		.											.	.	0			c.T200A						.						79.0	81.0	81.0					14																	93962775		2202	4287	6489	SO:0001583	missense	57578	exon6			AATTACTGGAATG	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.731T>A	14.37:g.93962775T>A	ENSP00000376858:p.Leu244Gln	312	0		258	16	NM_020818	0	0	0	0	0	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	T	22.3	4.267251	0.80469	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.27557	1.66;1.67;1.67;1.67	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000006	T	0.51041	0.1651	L	0.52573	1.65	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.52586	-0.8556	10	0.87932	D	0	-12.9559	15.8222	0.78662	0.0:0.0:0.0:1.0	.	244	C9JQL1	.	Q	67;244;244;244;244	ENSP00000256339:L67Q;ENSP00000450868:L244Q;ENSP00000451360:L244Q;ENSP00000376858:L244Q	ENSP00000256339:L67Q	L	+	2	0	KIAA1409	93032528	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.639000	0.83342	2.123000	0.65237	0.460000	0.39030	CTG	.		0.274	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
OTUB2	78990	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	94510351	94510353	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	CTT	CTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr14:94510351_94510353delCTT	ENST00000203664.5	+	4	462_464	c.253_255delCTT	c.(253-255)cttdel	p.L86del		NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 2	86	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		CCCAAATGACCTTCTGGCTGCTG	0.527																																					p.85_85del		.											.	OTUB2-500	0			c.253_255del						.																																			SO:0001651	inframe_deletion	78990	exon4			AATGACCTTCTGG	AF318378	CCDS9917.1	14q32.13-q32.2	2014-02-24	2014-02-24	2004-05-28		ENSG00000089723		"""OTU domain containing"""	20351	protein-coding gene	gene with protein product		608338	"""chromosome 14 open reading frame 137"", ""OTU domain, ubiquitin aldehyde binding 2"""	C14orf137		12704427, 19996094	Standard	NM_023112		Approved	FLJ21916, MGC3102	uc001ych.4	Q96DC9		ENST00000203664.5:c.253_255delCTT	14.37:g.94510351_94510353delCTT	ENSP00000203664:p.Leu86del	220	0		251	57	NM_023112	0	0	0	0	0	Q6IA10|Q9H6T1	In_Frame_Del	DEL	ENST00000203664.5	37	CCDS9917.1																																																																																			.		0.527	OTUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412855.1		
EML1	2009	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	100404174	100404174	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr14:100404174C>T	ENST00000262233.6	+	20	2255	c.2116C>T	c.(2116-2118)Caa>Taa	p.Q706*	EML1_ENST00000334192.4_Nonsense_Mutation_p.Q725*|EML1_ENST00000327921.9_Nonsense_Mutation_p.Q694*	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	706	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGCCTGTAAGCAAGTCGTAAG	0.502																																					p.Q725X		.											.	EML1-138	0			c.C2173T						.						240.0	206.0	217.0					14																	100404174		2203	4300	6503	SO:0001587	stop_gained	2009	exon21			TGTAAGCAAGTCG	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2116C>T	14.37:g.100404174C>T	ENSP00000262233:p.Gln706*	125	1		173	34	NM_001008707	0	0	0	0	0	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Nonsense_Mutation	SNP	ENST00000262233.6	37	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	C	41	8.854017	0.98978	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-18.2741	18.1469	0.89661	0.0:1.0:0.0:0.0	.	.	.	.	X	694;706;725;725	.	ENSP00000262233:Q706X	Q	+	1	0	EML1	99473927	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.455000	0.80726	2.364000	0.80123	0.561000	0.74099	CAA	.		0.502	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707	
CKB	1152	hgsc.bcm.edu	37	14	103988180	103988180	+	Silent	SNP	G	G	T	rs1136165	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr14:103988180G>T	ENST00000348956.2	-	4	813	c.456C>A	c.(454-456)cgC>cgA	p.R152R		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	152	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	TCTCGATGGCGCGGCGCTCCC	0.756													G|||	3294	0.657748	0.5416	0.7349	5008	,	,		7060	0.8264		0.6233	False		,,,				2504	0.6217				p.R152R	Esophageal Squamous(186;2492 2823 49929 50127)	.											.	CKB-115	0			c.C456A						.	G		1738,1164		574,590,287	3.0	4.0	3.0		456	-0.0	1.0	14	dbSNP_86	3	4002,2154		1387,1228,463	no	coding-synonymous	CKB	NM_001823.3		1961,1818,750	TT,TG,GG		34.9903,40.1103,36.6306		152/382	103988180	5740,3318	1451	3078	4529	SO:0001819	synonymous_variant	1152	exon4			GATGGCGCGGCGC		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.456C>A	14.37:g.103988180G>T		0	0		10	10	NM_001823	0	0	0	0	0	A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Silent	SNP	ENST00000348956.2	37	CCDS9981.1	1462	0.6694139194139194	285	0.5792682926829268	250	0.6906077348066298	460	0.8041958041958042	467	0.6160949868073878	G	13.11	2.138272	0.37728	0.598897	0.650097	ENSG00000166165	ENST00000428256	.	.	.	4.64	-0.0349	0.13894	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999624	.	.	.	.	.	.	T	0.17592	-1.0364	5	0.41790	T	0.15	-18.9304	4.9837	0.14180	0.3841:0.2745:0.3414:0.0	rs1136165;rs2227867;rs2765044;rs3179077;rs3199393;rs17366340;rs17423634;rs17849441;rs17850309;rs17850603;rs17851735;rs17851741;rs17857802	.	.	.	S	118	.	ENSP00000395515:R118S	R	-	1	0	CKB	103057933	0.001000	0.12720	0.999000	0.59377	0.996000	0.88848	-2.081000	0.01367	0.066000	0.16515	0.449000	0.29647	CGC	G|0.327;T|0.673		0.756	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1		
KIF26A	26153	hgsc.bcm.edu	37	14	104644984	104644984	+	Silent	SNP	G	G	T	rs375841914	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr14:104644984G>T	ENST00000423312.2	+	13	5208	c.5208G>T	c.(5206-5208)ccG>ccT	p.P1736P	KIF26A_ENST00000315264.7_Silent_p.P1597P	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1736					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ACCTGCCCCCGCCCCTGGCTG	0.721																																					p.P1736P		.											.	KIF26A-24	0			c.G5208T						.						4.0	5.0	5.0					14																	104644984		1722	3898	5620	SO:0001819	synonymous_variant	26153	exon13			GCCCCCGCCCCTG	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.5208G>T	14.37:g.104644984G>T		12	0		58	12	NM_015656	0	0	0	0	0	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			.		0.721	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1		
NPAP1	23742	hgsc.bcm.edu	37	15	24921115	24921115	+	Missense_Mutation	SNP	C	C	A	rs35022251	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	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	0	0		13	8	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	
NPAP1	23742	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	24921967	24921967	+	Missense_Mutation	SNP	C	C	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr15:24921967C>A	ENST00000329468.2	+	1	1427	c.953C>A	c.(952-954)cCc>cAc	p.P318H		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	318	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GCTGCTCCTCCCAGAGCTGCC	0.587																																					p.P318H		.											.	.	0			c.C953A						.						48.0	48.0	48.0					15																	24921967		2203	4300	6503	SO:0001583	missense	23742	exon1			CTCCTCCCAGAGC	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.953C>A	15.37:g.24921967C>A	ENSP00000333735:p.Pro318His	39	0		43	15	NM_018958	0	0	0	0	0		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	13.07	2.128145	0.37533	.	.	ENSG00000185823	ENST00000329468	T	0.14266	2.52	1.82	-0.18	0.13295	.	1.079520	0.07366	N	0.884993	T	0.25082	0.0609	L	0.46157	1.445	0.09310	N	1	D	0.71674	0.998	D	0.72338	0.977	T	0.19063	-1.0317	10	0.56958	D	0.05	.	4.1173	0.10088	0.0:0.5985:0.0:0.4015	.	318	Q9NZP6	CO002_HUMAN	H	318	ENSP00000333735:P318H	ENSP00000333735:P318H	P	+	2	0	C15orf2	22473060	0.000000	0.05858	0.000000	0.03702	0.321000	0.28281	-0.385000	0.07379	-0.050000	0.13356	0.205000	0.17691	CCC	.		0.587	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
DUOX1	53905	hgsc.bcm.edu	37	15	45453135	45453135	+	Missense_Mutation	SNP	T	T	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr15:45453135T>A	ENST00000321429.4	+	30	4210	c.3803T>A	c.(3802-3804)cTg>cAg	p.L1268Q	DUOX1_ENST00000561166.1_Missense_Mutation_p.L914Q|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.L1268Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1268	Ferric oxidoreductase.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTGGTGAGCCTGAGCCGGAAG	0.587																																					p.L1268Q		.											.	DUOX1-142	0			c.T3803A						.						128.0	109.0	115.0					15																	45453135		2198	4298	6496	SO:0001583	missense	53905	exon30			TGAGCCTGAGCCG	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3803T>A	15.37:g.45453135T>A	ENSP00000317997:p.Leu1268Gln	147	0		163	15	NM_017434	0	0	0	0	0	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.277630	0.80692	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.87412	-2.25;-2.25	3.47	3.47	0.39725	.	0.072010	0.56097	D	0.000025	D	0.92535	0.7629	M	0.89287	3.02	0.80722	D	1	D	0.67145	0.996	P	0.61800	0.894	D	0.93014	0.6434	10	0.72032	D	0.01	-8.3023	10.2086	0.43128	0.0:0.0:0.0:1.0	.	1268	Q9NRD9	DUOX1_HUMAN	Q	1268	ENSP00000317997:L1268Q;ENSP00000373689:L1268Q	ENSP00000317997:L1268Q	L	+	2	0	DUOX1	43240427	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.771000	0.85420	1.563000	0.49615	0.379000	0.24179	CTG	.		0.587	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434	
UNC13C	440279	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	54542551	54542551	+	Missense_Mutation	SNP	G	G	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr15:54542551G>T	ENST00000260323.11	+	7	3357	c.3357G>T	c.(3355-3357)tgG>tgT	p.W1119C	UNC13C_ENST00000545554.1_Missense_Mutation_p.W1119C|UNC13C_ENST00000537900.1_Missense_Mutation_p.W1117C	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1119					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGCTCCTGTGGGGCATTGCAA	0.512																																					p.W1119C		.											.	UNC13C-51	0			c.G3357T						.						100.0	98.0	99.0					15																	54542551		2140	4279	6419	SO:0001583	missense	440279	exon6			CCTGTGGGGCATT	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3357G>T	15.37:g.54542551G>T	ENSP00000260323:p.Trp1119Cys	261	0		190	47	NM_001080534	0	0	0	0	0	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283466	0.80803	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.93547	-3.24;-3.24;-3.24	5.56	5.56	0.83823	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.97914	0.9314	H	0.96861	3.895	0.80722	D	1	D	0.55172	0.97	D	0.65684	0.937	D	0.98997	1.0810	10	0.87932	D	0	.	18.5213	0.90954	0.0:0.0:1.0:0.0	.	1119	Q8NB66	UN13C_HUMAN	C	1119;1119;1117	ENSP00000260323:W1119C;ENSP00000438156:W1119C;ENSP00000442569:W1117C	ENSP00000260323:W1119C	W	+	3	0	UNC13C	52329843	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.856000	0.99531	2.626000	0.88956	0.650000	0.86243	TGG	.		0.512	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
ISLR	3671	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	74467204	74467204	+	Missense_Mutation	SNP	A	A	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr15:74467204A>G	ENST00000249842.3	+	2	362	c.5A>G	c.(4-6)cAg>cGg	p.Q2R	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.Q2R	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	2					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GGCACCATGCAGGAGCTGCAT	0.622																																					p.Q2R		.											.	ISLR-155	0			c.A5G						.						28.0	27.0	28.0					15																	74467204		2198	4297	6495	SO:0001583	missense	3671	exon2			CCATGCAGGAGCT	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.5A>G	15.37:g.74467204A>G	ENSP00000249842:p.Gln2Arg	39	0		41	14	NM_201526	0	0	0	0	0		Missense_Mutation	SNP	ENST00000249842.3	37	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	A	5.245	0.230686	0.09969	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.61040	0.14;0.14	3.91	-7.83	0.01201	.	1.239000	0.06120	N	0.668731	T	0.29458	0.0734	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14200	-1.0481	10	0.15066	T	0.55	.	1.9418	0.03348	0.1934:0.3915:0.2203:0.1948	.	2	O14498	ISLR_HUMAN	R	2	ENSP00000249842:Q2R;ENSP00000378550:Q2R	ENSP00000249842:Q2R	Q	+	2	0	ISLR	72254257	0.000000	0.05858	0.001000	0.08648	0.441000	0.31987	-1.712000	0.01885	-3.201000	0.00217	-0.736000	0.03550	CAG	.		0.622	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545	
PTPN9	5780	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	75809664	75809665	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	AT	AT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr15:75809664_75809665delAT	ENST00000306726.2	-	5	975_976	c.463_464delAT	c.(463-465)atgfs	p.M155fs		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	155	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGAACCACACATGTCATAGATA	0.416																																					p.155_155del		.											.	PTPN9-226	0			c.463_464del						.																																			SO:0001589	frameshift_variant	5780	exon5			CCACACATGTCAT		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.463_464delAT	15.37:g.75809664_75809665delAT	ENSP00000303554:p.Met155fs	103	0		92	29	NM_002833	0	0	0	0	0	Q53XR9	Frame_Shift_Del	DEL	ENST00000306726.2	37	CCDS10280.1																																																																																			.		0.416	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1		
MESP2	145873	hgsc.bcm.edu	37	15	90319773	90319773	+	Missense_Mutation	SNP	G	G	A	rs566641514	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr15:90319773G>A	ENST00000341735.3	+	1	185	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	62					mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			TGCAGCTCCCGAGCCGCAGAG	0.746													G|||	2	0.000399361	0.0	0.0	5008	,	,		12077	0.0		0.002	False		,,,				2504	0.0				p.R62Q		.											.	MESP2-68	0			c.G185A						.						1.0	2.0	2.0					15																	90319773		1189	2703	3892	SO:0001583	missense	145873	exon1			GCTCCCGAGCCGC		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.185G>A	15.37:g.90319773G>A	ENSP00000342392:p.Arg62Gln	0	0		9	5	NM_001039958	0	0	0	0	0	Q7RTU2	Missense_Mutation	SNP	ENST00000341735.3	37	CCDS42078.1	.	.	.	.	.	.	.	.	.	.	G	3.019	-0.202264	0.06219	.	.	ENSG00000188095	ENST00000341735	T	0.78924	-1.22	2.11	-1.41	0.08941	.	.	.	.	.	T	0.52419	0.1733	N	0.12182	0.205	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.30090	-0.9990	9	0.23891	T	0.37	.	2.8229	0.05477	0.3425:0.2461:0.4114:0.0	.	62	Q0VG99	MESP2_HUMAN	Q	62	ENSP00000342392:R62Q	ENSP00000342392:R62Q	R	+	2	0	MESP2	88120777	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-2.613000	0.00883	-0.185000	0.10550	-0.680000	0.03767	CGA	.		0.746	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261	
UNKL	64718	broad.mit.edu	37	16	1417283	1417283	+	Missense_Mutation	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:1417283C>T	ENST00000389221.4	-	14	1846	c.1847G>A	c.(1846-1848)cGg>cAg	p.R616Q	UNKL_ENST00000508903.2_Missense_Mutation_p.R619Q|UNKL_ENST00000248104.7_Missense_Mutation_p.R115Q|UNKL_ENST00000397464.1_Missense_Mutation_p.R118Q|UNKL_ENST00000391893.2_Missense_Mutation_p.R115Q|UNKL_ENST00000403703.1_Missense_Mutation_p.R118Q|UNKL_ENST00000402641.2_Missense_Mutation_p.R118Q	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	616					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				CGCCAGCTGCCGGTCGCTATC	0.692																																					p.R619Q		.											.	UNKL-90	0			c.G1856A						.						14.0	11.0	12.0					16																	1417283		2162	4209	6371	SO:0001583	missense	64718	exon14			AGCTGCCGGTCGC	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.1847G>A	16.37:g.1417283C>T	ENSP00000373873:p.Arg616Gln	15	0		118	10	NM_001193388	0	0	0	0	0	B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	ENST00000389221.4	37	CCDS53981.1	.	.	.	.	.	.	.	.	.	.	c	15.30	2.792428	0.50102	.	.	ENSG00000059145	ENST00000248104;ENST00000389221;ENST00000403703;ENST00000391893;ENST00000397464;ENST00000402641;ENST00000508903	T;T;T;T;T;T	0.77750	-1.12;-0.2;-1.12;-1.12;-0.29;-1.12	5.38	2.02	0.26589	.	.	.	.	.	T	0.79335	0.4428	M	0.64997	1.995	0.80722	D	1	P;D;P	0.76494	0.954;0.999;0.783	B;P;B	0.56751	0.336;0.805;0.084	T	0.74352	-0.3693	9	0.29301	T	0.29	.	7.3001	0.26415	0.0:0.6476:0.0:0.3524	.	616;115;619	Q9H9P5;Q9H9P5-3;E9PDK2	UNKL_HUMAN;.;.	Q	115;616;118;115;118;118;619	ENSP00000248104:R115Q;ENSP00000373873:R616Q;ENSP00000385895:R118Q;ENSP00000375763:R115Q;ENSP00000380606:R118Q;ENSP00000384850:R118Q	ENSP00000248104:R115Q	R	-	2	0	UNKL	1357284	0.929000	0.31497	1.000000	0.80357	0.356000	0.29392	1.399000	0.34566	0.669000	0.31146	0.444000	0.29173	CGG	.		0.692	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001037125	
CLCN7	1186	bcgsc.ca	37	16	1503879	1503879	+	Silent	SNP	T	T	A	rs2235579	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:1503879T>A	ENST00000382745.4	-	14	1775	c.1170A>T	c.(1168-1170)gcA>gcT	p.A390A	CLCN7_ENST00000262318.8_Silent_p.A366A|LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000448525.1_Silent_p.A366A	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	390					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CATTGAACACTGCTCCAAGCA	0.602													A|||	2784	0.555911	0.5197	0.5346	5008	,	,		16225	0.6895		0.4861	False		,,,				2504	0.5542				p.A390A		.											.	CLCN7-92	0			c.A1170T						.	A	,	2308,2090	571.5+/-383.1	614,1080,505	111.0	85.0	94.0		1098,1170	-8.3	0.7	16	dbSNP_98	94	4312,4288	575.4+/-390.2	1060,2192,1048	no	coding-synonymous,coding-synonymous	CLCN7	NM_001114331.1,NM_001287.4	,	1674,3272,1553	AA,AT,TT		49.8605,47.5216,49.0691	,	366/782,390/806	1503879	6620,6378	2199	4300	6499	SO:0001819	synonymous_variant	1186	exon14			GAACACTGCTCCA	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1170A>T	16.37:g.1503879T>A		124	1		216	9	NM_001287	0	0	0	0	0	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	CCDS32361.1																																																																																			T|0.472;A|0.528		0.602	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287	
SYNGR3	9143	hgsc.bcm.edu	37	16	2042139	2042139	+	Silent	SNP	C	C	A	rs12922682	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:2042139C>A	ENST00000248121.2	+	2	422	c.264C>A	c.(262-264)ctC>ctA	p.L88L	SYNGR3_ENST00000562045.1_5'UTR	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	88	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				positive regulation of transporter activity (GO:0032411)|substantia nigra development (GO:0021762)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|synaptic vesicle (GO:0008021)				endometrium(1)|lung(2)	3						TCCTGCTGCTCGATGTGCGCT	0.736													c|||	14	0.00279553	0.0023	0.0029	5008	,	,		8836	0.0		0.008	False		,,,				2504	0.001				p.L88L		.											.	SYNGR3-90	0			c.C264A						.	T		2,4148		0,2,2073	4.0	5.0	5.0		264	-1.4	0.9	16	dbSNP_121	5	65,8143		0,65,4039	no	coding-synonymous	SYNGR3	NM_004209.5		0,67,6112	AA,AC,CC		0.7919,0.0482,0.5422		88/230	2042139	67,12291	2075	4104	6179	SO:0001819	synonymous_variant	9143	exon2			GCTGCTCGATGTG	AJ002309	CCDS10456.1	16p13.3	2008-05-19			ENSG00000127561	ENSG00000127561			11501	protein-coding gene	gene with protein product		603927				9760194	Standard	NM_004209		Approved		uc002cod.3	O43761	OTTHUMG00000128711	ENST00000248121.2:c.264C>A	16.37:g.2042139C>A		0	0		50	33	NM_004209	0	0	0	0	0	B2R9S0	Silent	SNP	ENST00000248121.2	37	CCDS10456.1																																																																																			C|0.996;A|0.004		0.736	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250616.1		
ZNF598	90850	hgsc.bcm.edu	37	16	2059674	2059674	+	Missense_Mutation	SNP	T	T	C	rs71384660		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:2059674T>C	ENST00000431526.1	-	2	88	c.74A>G	c.(73-75)gAa>gGa	p.E25G	ZNF598_ENST00000563630.1_5'UTR|ZNF598_ENST00000562103.1_5'UTR	NM_178167.2	NP_835461.2	Q86UK7	ZN598_HUMAN	zinc finger protein 598	25							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GCTCCCGCCTTCCCGCTCAGG	0.766													C|||	5008	1.0	1.0	1.0	5008	,	,		5162	1.0		1.0	False		,,,				2504	1.0				p.E25G		.											.	ZNF598-432	0			c.A74G						.						1.0	2.0	2.0					16																	2059674		1089	2314	3403	SO:0001583	missense	90850	exon2			CCGCCTTCCCGCT	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000431526.1:c.74A>G	16.37:g.2059674T>C	ENSP00000411409:p.Glu25Gly	0	0		8	8	NM_178167	0	0	0	0	0	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000431526.1	37		2168	0.9926739926739927	487	0.9898373983739838	361	0.9972375690607734	568	0.993006993006993	752	0.9920844327176781	N	1.560	-0.537056	0.04082	.	.	ENSG00000167962	ENST00000431526	T	0.77098	-1.07	3.3	3.3	0.37823	.	0.415485	0.23105	N	0.051871	T	0.00012	0.0000	.	.	.	0.48696	P	3.1000000000003247E-4	.	.	.	.	.	.	T	0.34650	-0.9820	6	0.22706	T	0.39	-7.8624	8.393	0.32540	0.0:0.8796:0.0:0.1204	.	.	.	.	G	25	ENSP00000411409:E25G	ENSP00000411409:E25G	E	-	2	0	ZNF598	1999675	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	0.911000	0.28584	0.691000	0.31592	-0.642000	0.03964	GAA	T|0.007;C|0.993		0.766	ZNF598-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178167	
MEFV	4210	hgsc.bcm.edu	37	16	3304463	3304463	+	Missense_Mutation	SNP	C	C	T	rs224222	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:3304463C>T	ENST00000219596.1	-	2	644	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_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		16	9	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	
DNASE1	1773	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	3705910	3705910	+	Missense_Mutation	SNP	G	G	C	rs571444570		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:3705910G>C	ENST00000246949.5	+	3	3417	c.208G>C	c.(208-210)Gtg>Ctg	p.V70L	DNASE1_ENST00000407479.1_Missense_Mutation_p.V70L|DNASE1_ENST00000414110.2_Intron	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	70					apoptotic process (GO:0006915)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	deoxyribonuclease I activity (GO:0004530)			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)		CCTGACTGCCGTGGGGAAGCT	0.627																																					p.V70L		.											.	DNASE1-90	0			c.G208C						.						103.0	85.0	91.0					16																	3705910		2197	4300	6497	SO:0001583	missense	1773	exon3			ACTGCCGTGGGGA		CCDS10507.1	16p13.3	2008-02-05			ENSG00000213918	ENSG00000213918	3.1.21.1		2956	protein-coding gene	gene with protein product		125505		DNL1		2349940	Standard	XM_005255148		Approved		uc002cvr.3	P24855	OTTHUMG00000129426	ENST00000246949.5:c.208G>C	16.37:g.3705910G>C	ENSP00000246949:p.Val70Leu	126	0		204	50	NM_005223	0	0	0	0	0	B4DV35|Q14UU9|Q14UV0	Missense_Mutation	SNP	ENST00000246949.5	37	CCDS10507.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143810	0.77888	.	.	ENSG00000213918	ENST00000407479;ENST00000246949	T;T	0.50548	0.74;0.74	4.96	4.96	0.65561	Endonuclease/exonuclease/phosphatase (2);	0.122227	0.56097	D	0.000029	T	0.50497	0.1619	M	0.64676	1.99	0.80722	D	1	P	0.44659	0.84	P	0.46659	0.523	T	0.51616	-0.8683	10	0.46703	T	0.11	-1.5672	11.1052	0.48199	0.0852:0.0:0.9148:0.0	.	70	P24855	DNAS1_HUMAN	L	70	ENSP00000385905:V70L;ENSP00000246949:V70L	ENSP00000246949:V70L	V	+	1	0	DNASE1	3645911	0.999000	0.42202	0.949000	0.38748	0.995000	0.86356	3.480000	0.53172	2.474000	0.83562	0.462000	0.41574	GTG	G|1.000;T|0.000		0.627	DNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251585.2		
RRN3	54700	broad.mit.edu	37	16	15168670	15168670	+	Missense_Mutation	SNP	G	G	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:15168670G>T	ENST00000198767.6	-	11	990	c.907C>A	c.(907-909)Ctc>Atc	p.L303I	RRN3_ENST00000563559.1_Missense_Mutation_p.L303I|RRN3_ENST00000429751.2_Missense_Mutation_p.L273I|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000327307.7_Missense_Mutation_p.L270I|RRN3_ENST00000540462.1_Missense_Mutation_p.L121I	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	303					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						ATCTGGTCGAGCCGTTCAGGA	0.413																																					p.L303I		.											.	RRN3-91	0			c.C907A						.						113.0	84.0	94.0					16																	15168670		2197	4300	6497	SO:0001583	missense	54700	exon11			GGTCGAGCCGTTC	AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.907C>A	16.37:g.15168670G>T	ENSP00000198767:p.Leu303Ile	81	3		93	8	NM_018427	0	0	0	0	0	A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	ENST00000198767.6	37	CCDS10559.1	.	.	.	.	.	.	.	.	.	.	.	7.146	0.582795	0.13749	.	.	ENSG00000085721	ENST00000198767;ENST00000429751;ENST00000327307;ENST00000540462	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.52	4.51	0.55191	.	0.660421	0.13888	N	0.355828	T	0.28433	0.0703	N	0.19112	0.55	0.09310	N	1	B;B;B	0.14012	0.004;0.005;0.009	B;B;B	0.12156	0.003;0.007;0.007	T	0.06935	-1.0799	10	0.36615	T	0.2	.	10.7149	0.46006	0.0:0.0:0.628:0.372	.	273;204;303	F5H148;B4DZL9;Q9NYV6	.;.;RRN3_HUMAN	I	303;273;270;121	ENSP00000198767:L303I;ENSP00000402027:L273I;ENSP00000318484:L270I;ENSP00000437963:L121I	ENSP00000198767:L303I	L	-	1	0	RRN3	15076171	0.000000	0.05858	0.041000	0.18516	0.004000	0.04260	0.777000	0.26718	2.586000	0.87340	0.561000	0.74099	CTC	.		0.413	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427	
ADCY7	113	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	50326734	50326734	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:50326734C>T	ENST00000394697.2	+	5	1025	c.685C>T	c.(685-687)Cag>Tag	p.Q229*	ADCY7_ENST00000566433.2_Nonsense_Mutation_p.Q229*|ADCY7_ENST00000254235.3_Nonsense_Mutation_p.Q229*|ADCY7_ENST00000537579.1_Nonsense_Mutation_p.Q229*|ADCY7_ENST00000538642.1_Nonsense_Mutation_p.Q229*|ADCY7_ENST00000564044.1_3'UTR			P51828	ADCY7_HUMAN	adenylate cyclase 7	229					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)|cellular response to ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GAAGCGCCAGCAGGTGGGACC	0.582																																					p.Q229X		.											.	ADCY7-91	0			c.C685T						.						68.0	76.0	73.0					16																	50326734		2198	4300	6498	SO:0001587	stop_gained	113	exon4			CGCCAGCAGGTGG	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.685C>T	16.37:g.50326734C>T	ENSP00000378187:p.Gln229*	33	0		47	14	NM_001114	0	0	0	0	0	A0AVA6	Nonsense_Mutation	SNP	ENST00000394697.2	37	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	C	40	8.168278	0.98686	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	.	.	.	5.14	5.14	0.70334	.	0.000000	0.42172	U	0.000759	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.7829	0.91941	0.0:1.0:0.0:0.0	.	.	.	.	X	229	.	ENSP00000254235:Q229X	Q	+	1	0	ADCY7	48884235	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.497000	0.81536	2.668000	0.90789	0.655000	0.94253	CAG	.		0.582	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3		
CDH1	999	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	68867311	68867314	+	Frame_Shift_Del	DEL	CAGA	CAGA	-	rs569928380		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	CAGA	CAGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:68867311_68867314delCAGA	ENST00000261769.5	+	16	2749_2752	c.2558_2561delCAGA	c.(2557-2562)tcagacfs	p.SD853fs	CDH1_ENST00000422392.2_Frame_Shift_Del_p.SD792fs|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	853	Required for binding alpha, beta and gamma catenins.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TCCTCAGAGTCAGACAAAGACCAG	0.544			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																												p.853_854del		.	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	.	CDH1-3377	0			c.2558_2561del						.																																			SO:0001589	frameshift_variant	999	exon16	Familial Cancer Database	HDGC	CAGAGTCAGACAA	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2558_2561delCAGA	16.37:g.68867311_68867314delCAGA	ENSP00000261769:p.Ser853fs	85	0		146	24	NM_004360	0	0	0	0	0	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Del	DEL	ENST00000261769.5	37	CCDS10869.1																																																																																			.		0.544	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	
ZFPM1	161882	hgsc.bcm.edu	37	16	88599696	88599697	+	Frame_Shift_Del	DEL	GA	GA	-	rs368520732|rs67712719	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	GA	GA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:88599696_88599697delGA	ENST00000319555.3	+	10	1652_1653	c.1330_1331delGA	c.(1330-1332)gagfs	p.E444fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGCCAGAGCGGAGCCTCTGGCC	0.743														4881	0.974641	0.9138	0.9914	5008	,	,		7261	0.996		1.0	False		,,,				2504	0.9969				p.444_444del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1330_1331del						.			2219,383		1063,93,145						-6.5	0.0		dbSNP_130	3	4709,133		2339,31,51	no	frameshift	ZFPM1	NM_153813.2		3402,124,196	A1A1,A1R,RR		2.7468,14.7194,6.9318				6928,516				SO:0001589	frameshift_variant	161882	exon10			AGAGCGGAGCCTC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1330_1331delGA	16.37:g.88599696_88599697delGA	ENSP00000326630:p.Glu444fs	0	0		17	10	NM_153813	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.743	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		
ZFPM1	161882	hgsc.bcm.edu	37	16	88599701	88599701	+	Frame_Shift_Del	DEL	T	T	-	rs67322929|rs149145771	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:88599701delT	ENST00000319555.3	+	10	1657	c.1335delT	c.(1333-1335)cctfs	p.P445fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	445				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GAGCGGAGCCTCTGGCCCAGA	0.746													-|T|-|insertion	4871	0.972644	0.9145	0.9899	5008	,	,		7405	0.995		0.994	False		,,,				2504	0.9939				p.P445fs	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1335delT						.						1.0	1.0	1.0					16																	88599701		392	657	1049	SO:0001589	frameshift_variant	161882	exon10			GGAGCCTCTGGCC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1335delT	16.37:g.88599701delT	ENSP00000326630:p.Pro445fs	0	0		12	10	NM_153813	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		
ZFPM1	161882	hgsc.bcm.edu	37	16	88599703	88599705	+	In_Frame_Del	DEL	TGG	TGG	-	rs149145771|rs67873604	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	TGG	TGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:88599703_88599705delTGG	ENST00000319555.3	+	10	1659_1661	c.1337_1339delTGG	c.(1336-1341)ctggcc>ccc	p.446_447LA>P	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	446				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCGGAGCCTCTGGCCCAGAATGG	0.739														4871	0.972644	0.9145	0.9899	5008	,	,		7191	0.995		0.994	False		,,,				2504	0.9939				p.446_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1337_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			AGCCTCTGGCCCA	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1337_1339delTGG	16.37:g.88599703_88599705delTGG	ENSP00000326630:p.Leu446_Ala447delinsPro	0	0		12	10	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.739	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		
CYBA	1535	hgsc.bcm.edu	37	16	88709869	88709869	+	Silent	SNP	C	C	T	rs72547284	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:88709869C>T	ENST00000261623.3	-	6	618	c.480G>A	c.(478-480)ccG>ccA	p.P160P		NM_000101.3	NP_000092.2	P13498	CY24A_HUMAN	cytochrome b-245, alpha polypeptide	160	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|cytochrome complex assembly (GO:0017004)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|negative regulation of glomerular filtration by angiotensin (GO:0003106)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of cell growth (GO:0030307)|positive regulation of endothelial cell proliferation (GO:0001938)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|response to nutrient levels (GO:0031667)|smooth muscle hypertrophy (GO:0014895)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|secretory granule (GO:0030141)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)	Dextromethorphan(DB00514)	gggcctcggccgggggccgcg	0.761													C|||	43	0.00858626	0.0023	0.0259	5008	,	,		6547	0.0		0.0179	False		,,,				2504	0.0041				p.P160P		.											.	CYBA-90	0			c.G480A						.	C		5,2091		0,5,1043	1.0	2.0	2.0		480	-9.0	0.0	16	dbSNP_130	2	77,5181		0,77,2552	no	coding-synonymous	CYBA	NM_000101.2		0,82,3595	TT,TC,CC		1.4644,0.2385,1.115		160/196	88709869	82,7272	1048	2629	3677	SO:0001819	synonymous_variant	1535	exon6			CTCGGCCGGGGGC		CCDS32504.1	16q24	2014-09-17				ENSG00000051523		"""Cytochrome b genes"""	2577	protein-coding gene	gene with protein product	"""flavocytochrome b-558 alpha polypeptide"""	608508				2243141	Standard	NM_000101		Approved	p22-PHOX	uc002flb.4	P13498		ENST00000261623.3:c.480G>A	16.37:g.88709869C>T		0	0		5	4	NM_000101	0	0	0	0	0	Q14090|Q9BR72	Silent	SNP	ENST00000261623.3	37	CCDS32504.1																																																																																			C|0.985;T|0.015		0.761	CYBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422765.1	NM_000101	
GLTPD2	388323	hgsc.bcm.edu	37	17	4693384	4693384	+	Silent	SNP	T	T	C	rs150754782	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:4693384T>C	ENST00000331264.7	+	4	722	c.669T>C	c.(667-669)ggT>ggC	p.G223G		NM_001014985.2	NP_001014985	A6NH11	GLTD2_HUMAN	glycolipid transfer protein domain containing 2	223						cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)	p.G223G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						CGGCCCTGGGTCCGCATCACC	0.766													T|||	90	0.0179712	0.0015	0.0288	5008	,	,		10010	0.003		0.0596	False		,,,				2504	0.0051				p.G223G		.											.	GLTPD2-68	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.T669C						.	T		9,3409		0,9,1700	2.0	3.0	3.0		669	-0.3	0.9	17	dbSNP_134	3	203,7141		2,199,3471	no	coding-synonymous	GLTPD2	NM_001014985.2		2,208,5171	CC,CT,TT		2.7642,0.2633,1.9699		223/292	4693384	212,10550	1709	3672	5381	SO:0001819	synonymous_variant	388323	exon4			CCTGGGTCCGCAT	BC029290	CCDS32534.1	17p13.2	2007-12-19				ENSG00000182327			33756	protein-coding gene	gene with protein product							Standard	NM_001014985		Approved		uc002fza.2	A6NH11		ENST00000331264.7:c.669T>C	17.37:g.4693384T>C		1	0		16	9	NM_001014985	0	0	0	0	0	A7E2T2	Silent	SNP	ENST00000331264.7	37	CCDS32534.1																																																																																			T|0.978;C|0.022		0.766	GLTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439781.1	NM_001014985	
TMEM256-PLSCR3	100529211	hgsc.bcm.edu	37	17	7297121	7297121	+	Silent	SNP	G	G	A	rs2277641	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:7297121G>A	ENST00000576362.1	-	2	199	c.42C>T	c.(40-42)ccC>ccT	p.P14P	TMEM256-PLSCR3_ENST00000576201.1_Silent_p.P14P|TMEM256-PLSCR3_ENST00000535512.1_Silent_p.P14P|TMEM256-PLSCR3_ENST00000574401.1_Silent_p.P14P|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000324822.11_Silent_p.P14P					TMEM256-PLSCR3 readthrough (NMD candidate)																		AGGGAGGTGGGGGCGAAGGGG	0.662													G|||	169	0.033746	0.0015	0.0375	5008	,	,		12381	0.0863		0.0308	False		,,,				2504	0.0235				p.P14P		.											.	PLSCR3-22	0			c.C42T						.	G	,	14,2896		1,12,1442	2.0	3.0	3.0		42,42	3.9	1.0	17	dbSNP_100	3	136,6508		10,116,3196	no	coding-synonymous,coding-synonymous	PLSCR3	NM_001201576.1,NM_020360.3	,	11,128,4638	AA,AG,GG		2.047,0.4811,1.57	,	14/296,14/296	7297121	150,9404	1455	3322	4777	SO:0001819	synonymous_variant	57048	exon3			AGGTGGGGGCGAA			17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.42C>T	17.37:g.7297121G>A		1	0		7	5	NM_020360	0	0	0	0	0		Silent	SNP	ENST00000576362.1	37																																																																																				G|0.929;A|0.071		0.662	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000440808.1		
NAA38	84316	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	7760499	7760499	+	Silent	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:7760499G>A	ENST00000335155.5	-	2	98	c.99C>T	c.(97-99)cgC>cgT	p.R33R	LSMD1_ENST00000570555.1_5'Flank|LSMD1_ENST00000575208.1_5'UTR|CYB5D1_ENST00000571846.1_5'Flank|LSMD1_ENST00000576861.1_Silent_p.R7R|CYB5D1_ENST00000332439.4_5'Flank|LSMD1_ENST00000575071.1_5'UTR|LSMD1_ENST00000576384.1_5'UTR|LSMD1_ENST00000575771.1_5'UTR|LSMD1_ENST00000333775.5_Silent_p.R81R|CYB5D1_ENST00000570446.1_5'Flank			Q9BRA0	LSMD1_HUMAN		33					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				CCGAGTCCTCGCGCTCTCCGT	0.692											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R81R	GBM(66;626 1401 29924 42527)	.											.	LSMD1-91	0			c.C243T						.						63.0	66.0	65.0					17																	7760499		2202	4293	6495	SO:0001819	synonymous_variant	84316	exon1			GTCCTCGCGCTCT																												ENST00000335155.5:c.99C>T	17.37:g.7760499G>A		62	1	644	95	19	NM_032356	0	0	0	0	0	Q8N4M0	Silent	SNP	ENST00000335155.5	37																																																																																				.		0.692	LSMD1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			
MYH2	4620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	10428659	10428659	+	Missense_Mutation	SNP	A	A	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:10428659A>T	ENST00000245503.5	-	33	4928	c.4544T>A	c.(4543-4545)aTt>aAt	p.I1515N	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.I1515N|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1515					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GAGGTCAGAAATCTCCTCTGT	0.378																																					p.I1515N		.											.	MYH2-194	0			c.T4544A						.						92.0	83.0	86.0					17																	10428659		2203	4300	6503	SO:0001583	missense	4620	exon33			TCAGAAATCTCCT		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4544T>A	17.37:g.10428659A>T	ENSP00000245503:p.Ile1515Asn	78	0		60	20	NM_017534	0	0	0	0	0	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386812	0.82902	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.82344	-1.6;-1.6	5.2	5.2	0.72013	Myosin tail (1);	0.000000	0.39759	U	0.001279	D	0.93180	0.7828	M	0.94021	3.485	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.94857	0.8018	10	0.87932	D	0	.	15.2299	0.73378	1.0:0.0:0.0:0.0	.	1515	Q9UKX2	MYH2_HUMAN	N	1515	ENSP00000245503:I1515N;ENSP00000380367:I1515N	ENSP00000245503:I1515N	I	-	2	0	MYH2	10369384	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.113000	0.94321	2.190000	0.69967	0.482000	0.46254	ATT	.		0.378	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
HS3ST3A1	9955	broad.mit.edu	37	17	13400090	13400090	+	Missense_Mutation	SNP	C	C	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:13400090C>G	ENST00000284110.1	-	2	1442	c.645G>C	c.(643-645)aaG>aaC	p.K215N	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.K13N	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	215	Substrate binding.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AACTGGGCGTCTTCTCCATGG	0.617																																					p.K215N		.											.	HS3ST3A1-515	0			c.G645C						.						57.0	66.0	63.0					17																	13400090		2203	4300	6503	SO:0001583	missense	9955	exon2			GGGCGTCTTCTCC	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.645G>C	17.37:g.13400090C>G	ENSP00000284110:p.Lys215Asn	272	1		419	13	NM_006042	0	0	0	0	0	A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	37	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807873	0.70797	.	.	ENSG00000153976	ENST00000284110	T	0.53423	0.62	5.32	4.32	0.51571	Sulfotransferase domain (1);	0.000000	0.85682	U	0.000000	T	0.77624	0.4158	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83639	0.0149	10	0.87932	D	0	.	10.6131	0.45434	0.0:0.7903:0.1357:0.074	.	215	Q9Y663	HS3SA_HUMAN	N	215	ENSP00000284110:K215N	ENSP00000284110:K215N	K	-	3	2	HS3ST3A1	13340815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.675000	0.37555	1.507000	0.48752	0.563000	0.77884	AAG	.		0.617	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042	
UBB	7314	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	16285604	16285604	+	Missense_Mutation	SNP	A	A	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:16285604A>G	ENST00000395837.1	+	2	564	c.383A>G	c.(382-384)gAt>gGt	p.D128G	UBB_ENST00000578649.1_Intron|UBB_ENST00000302182.3_Missense_Mutation_p.D128G|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Missense_Mutation_p.D128G|UBB_ENST00000535788.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	128	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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 epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|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 I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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 initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.D128G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CAGCTGGAAGATGGCCGCACT	0.547																																					p.D128G	Melanoma(163;1126 3406 34901)	.											.	UBB-47	1	Substitution - Missense(1)	lung(1)	c.A383G						.						83.0	84.0	84.0					17																	16285604		2203	4299	6502	SO:0001583	missense	7314	exon2			TGGAAGATGGCCG		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.383A>G	17.37:g.16285604A>G	ENSP00000379178:p.Asp128Gly	214	0		437	83	NM_018955	0	0	0	0	0	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000395837.1	37	CCDS11177.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.635593	0.47049	.	.	ENSG00000170315	ENST00000302182;ENST00000395839;ENST00000395837	T;T;T	0.53423	0.62;0.62;0.62	4.13	4.13	0.48395	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.000000	0.52532	U	0.000067	T	0.72423	0.3458	M	0.93898	3.47	0.80722	D	1	P	0.35493	0.505	P	0.52823	0.71	T	0.78388	-0.2223	10	0.87932	D	0	.	12.6923	0.56982	1.0:0.0:0.0:0.0	.	128	P0CG47	UBB_HUMAN	G	128	ENSP00000304697:D128G;ENSP00000379180:D128G;ENSP00000379178:D128G	ENSP00000304697:D128G	D	+	2	0	UBB	16226329	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.275000	0.89892	1.662000	0.50781	0.524000	0.50904	GAT	.		0.547	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955	
SMCR8	140775	broad.mit.edu	37	17	18221001	18221001	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:18221001delA	ENST00000406438.3	+	1	2378	c.1898delA	c.(1897-1899)gaafs	p.E633fs	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	633						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTTTCAGTGGAAAATGCCAAC	0.587																																					p.E633fs		.											.	SMCR8-91	0			c.1898delA						.						64.0	61.0	62.0					17																	18221001		2203	4300	6503	SO:0001589	frameshift_variant	140775	exon1			CAGTGGAAAATGC	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.1898delA	17.37:g.18221001delA	ENSP00000385025:p.Glu633fs	133	0		187	7	NM_144775	0	0	0	0	0	A5PKZ5|Q3ZCN0|Q6PJL3	Frame_Shift_Del	DEL	ENST00000406438.3	37	CCDS11195.2																																																																																			.		0.587	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775	
NEK8	284086	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	27064883	27064883	+	Silent	SNP	G	G	A	rs146798411	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:27064883G>A	ENST00000268766.6	+	7	970	c.936G>A	c.(934-936)tcG>tcA	p.S312S	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	312					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CACCACTGTCGTCAGTGTATG	0.627													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		14534	0.0		0.0	False		,,,				2504	0.0				p.S312S	NSCLC(6;19 293 14866 25253 49845)	.											.	NEK8-335	0			c.G936A						.	G		5,4401	8.1+/-20.4	0,5,2198	62.0	69.0	67.0		936	-11.1	0.0	17	dbSNP_134	67	0,8598		0,0,4299	no	coding-synonymous	NEK8	NM_178170.2		0,5,6497	AA,AG,GG		0.0,0.1135,0.0384		312/693	27064883	5,12999	2203	4299	6502	SO:0001819	synonymous_variant	284086	exon7			ACTGTCGTCAGTG	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.936G>A	17.37:g.27064883G>A		70	0		237	35	NM_178170	0	0	0	0	0	A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Silent	SNP	ENST00000268766.6	37	CCDS32597.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	4.242	0.043850	0.08196	0.001135	0.0	ENSG00000160602	ENST00000543014	T	0.70986	-0.53	5.54	-11.1	0.00147	.	.	.	.	.	T	0.58380	0.2118	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67998	-0.5525	6	0.29301	T	0.29	.	6.7338	0.23399	0.0773:0.1697:0.5053:0.2477	.	.	.	.	I	366	ENSP00000465859:V366I	ENSP00000446066:V366I	V	+	1	0	NEK8	24089010	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-3.117000	0.00597	-4.849000	0.00029	-2.511000	0.00188	GTC	G|1.000;A|0.000		0.627	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2		
KRTAP3-2	83897	bcgsc.ca	37	17	39156027	39156027	+	Missense_Mutation	SNP	G	G	A	rs3829598	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:39156027G>A	ENST00000391587.1	-	1	111	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C		NM_031959.2	NP_114165.1	Q9BYR7	KRA32_HUMAN	keratin associated protein 3-2	27	3 X 5 AA repeats of C-C-X(3).		R -> C (in dbSNP:rs3829598).			keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				ACTCCACAGCGGCAGGATTTG	0.612													.|||	872	0.174121	0.0265	0.2709	5008	,	,		18323	0.2629		0.169	False		,,,				2504	0.2188				p.R27C		.											.	.	0			c.C79T						.	G	CYS/ARG	191,4215	120.4+/-158.0	6,179,2018	71.0	81.0	78.0		79	2.6	1.0	17	dbSNP_107	78	1495,7097	281.3+/-295.0	129,1237,2930	no	missense	KRTAP3-2	NM_031959.2	180	135,1416,4948	AA,AG,GG		17.3999,4.335,12.9712	probably-damaging	27/99	39156027	1686,11312	2203	4296	6499	SO:0001583	missense	83897	exon1			CACAGCGGCAGGA	AJ406932	CCDS32644.1	17q21.2	2013-06-25			ENSG00000212900	ENSG00000212900		"""Keratin associated proteins"""	16779	protein-coding gene	gene with protein product						11279113	Standard	NM_031959		Approved	KAP3.2	uc002hvs.3	Q9BYR7	OTTHUMG00000133581	ENST00000391587.1:c.79C>T	17.37:g.39156027G>A	ENSP00000375429:p.Arg27Cys	315	3		195	8	NM_031959	0	0	0	0	0		Missense_Mutation	SNP	ENST00000391587.1	37	CCDS32644.1	372	0.17032967032967034	13	0.026422764227642278	91	0.2513812154696133	140	0.24475524475524477	128	0.16886543535620052	G	15.53	2.862235	0.51482	0.04335	0.173999	ENSG00000212900	ENST00000391587	T	0.33865	1.39	5.76	2.56	0.30785	.	0.000000	0.51477	D	0.000100	T	0.00039	0.0001	.	.	.	0.22199	P	0.99929956	D	0.89917	1.0	D	0.87578	0.998	T	0.04307	-1.0961	8	0.87932	D	0	.	11.8174	0.52218	0.0:0.0:0.5368:0.4632	rs3829598	27	Q9BYR7	KRA32_HUMAN	C	27	ENSP00000375429:R27C	ENSP00000375429:R27C	R	-	1	0	KRTAP3-2	36409553	1.000000	0.71417	0.959000	0.39883	0.472000	0.32918	2.055000	0.41345	0.312000	0.23038	-0.318000	0.08688	CGC	G|0.865;A|0.135		0.612	KRTAP3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257685.1		
FKBP10	60681	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	39974745	39974745	+	Missense_Mutation	SNP	C	C	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:39974745C>G	ENST00000321562.4	+	4	797	c.693C>G	c.(691-693)atC>atG	p.I231M	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	231	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		AGATTATCATCCCTCCATTCC	0.557																																					p.I231M		.											.	FKBP10-227	0			c.C693G						.						112.0	92.0	99.0					17																	39974745		2203	4300	6503	SO:0001583	missense	60681	exon4			TATCATCCCTCCA	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.693C>G	17.37:g.39974745C>G	ENSP00000317232:p.Ile231Met	149	0		142	45	NM_021939	0	0	0	0	0	Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605014	0.66445	.	.	ENSG00000141756	ENST00000321562;ENST00000414352	D	0.90844	-2.74	5.53	2.13	0.27403	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.138224	0.45867	D	0.000337	D	0.95037	0.8393	M	0.89840	3.065	0.80722	D	1	D	0.67145	0.996	D	0.73380	0.98	D	0.94245	0.7488	10	0.72032	D	0.01	-11.3554	9.4911	0.38960	0.1252:0.734:0.0:0.1408	.	231	Q96AY3	FKB10_HUMAN	M	231	ENSP00000317232:I231M	ENSP00000317232:I231M	I	+	3	3	FKBP10	37228271	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.116000	0.31221	0.730000	0.32425	0.561000	0.74099	ATC	.		0.557	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939	
BECN1	8678	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	40963676	40963676	+	Missense_Mutation	SNP	T	T	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:40963676T>C	ENST00000361523.4	-	11	1313	c.1181A>G	c.(1180-1182)tAc>tGc	p.Y394C	BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Missense_Mutation_p.Y394C	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	394					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TACTGACCTGTAGGGAAGACA	0.443																																					p.Y394C		.											.	BECN1-228	0			c.A1181G						.						177.0	149.0	158.0					17																	40963676		2203	4300	6503	SO:0001583	missense	8678	exon11			GACCTGTAGGGAA	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.1181A>G	17.37:g.40963676T>C	ENSP00000355231:p.Tyr394Cys	85	0		97	27	NM_003766	0	0	0	0	0	B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.752410	0.69533	.	.	ENSG00000126581	ENST00000361523;ENST00000543382	T	0.61859	0.07	5.54	5.54	0.83059	.	0.057070	0.64402	D	0.000001	T	0.79161	0.4399	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.82619	-0.0368	10	0.62326	D	0.03	.	15.8465	0.78895	0.0:0.0:0.0:1.0	.	394	Q14457	BECN1_HUMAN	C	394;307	ENSP00000355231:Y394C	ENSP00000355231:Y394C	Y	-	2	0	BECN1	38217202	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.836000	0.86788	2.326000	0.78906	0.533000	0.62120	TAC	.		0.443	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766	
GRN	2896	broad.mit.edu	37	17	42427607	42427607	+	Missense_Mutation	SNP	G	G	A	rs63749940		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:42427607G>A	ENST00000053867.3	+	5	423	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	GRN_ENST00000589265.1_Missense_Mutation_p.V121M	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	121					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TAACAACTCCGTGGGTGCCAT	0.602																																					p.V121M		.											.	GRN-517	0			c.G361A	GRCh37	CD075440	GRN	D	rs63749940	.						197.0	166.0	177.0					17																	42427607		2203	4300	6503	SO:0001583	missense	2896	exon5			AACTCCGTGGGTG	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.361G>A	17.37:g.42427607G>A	ENSP00000053867:p.Val121Met	99	0		155	5	NM_002087	0	0	0	0	0	D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	ENST00000053867.3	37	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	g	6.281	0.419956	0.11928	.	.	ENSG00000030582	ENST00000053867;ENST00000357351	T	0.70869	-0.52	3.89	-7.78	0.01223	.	0.792111	0.10534	N	0.663510	T	0.52191	0.1719	L	0.52011	1.625	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.27872	-1.0061	10	0.34782	T	0.22	0.5809	2.683	0.05100	0.1991:0.4599:0.2058:0.1351	.	121	P28799	GRN_HUMAN	M	121	ENSP00000053867:V121M	ENSP00000053867:V121M	V	+	1	0	GRN	39783133	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-2.170000	0.01268	-2.484000	0.00521	-1.503000	0.00956	GTG	.		0.602	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087	
MARCH10	162333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	60779069	60779069	+	Missense_Mutation	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:60779069C>T	ENST00000311269.5	-	11	2696	c.2422G>A	c.(2422-2424)Gtc>Atc	p.V808I	MARCH10_ENST00000456609.2_Missense_Mutation_p.V808I|MARCH10_ENST00000583600.1_Missense_Mutation_p.V846I|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000582358.1_5'UTR	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	808					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CCTTGCTAGACGACCTGGCTT	0.572																																					p.V808I		.											.	MARCH10-90	0			c.G2422A						.						192.0	169.0	177.0					17																	60779069		2203	4300	6503	SO:0001583	missense	162333	exon11			GCTAGACGACCTG	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.2422G>A	17.37:g.60779069C>T	ENSP00000311496:p.Val808Ile	59	0		109	16	NM_001100875	0	0	0	0	0	D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	C	7.703	0.693565	0.15039	.	.	ENSG00000173838	ENST00000456609;ENST00000311269	T;T	0.12672	2.66;2.66	5.06	-2.78	0.05859	.	.	.	.	.	T	0.05456	0.0144	N	0.16478	0.41	0.21325	N	0.999729	B	0.15719	0.014	B	0.08055	0.003	T	0.43048	-0.9415	9	0.02654	T	1	.	5.7271	0.18018	0.0:0.392:0.1382:0.4698	.	808	Q8NA82	MARHA_HUMAN	I	808	ENSP00000416177:V808I;ENSP00000311496:V808I	ENSP00000311496:V808I	V	-	1	0	MARCH10	58132801	0.000000	0.05858	0.003000	0.11579	0.533000	0.34776	-1.543000	0.02194	-0.913000	0.03832	-0.254000	0.11334	GTC	.		0.572	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598	
RAB37	326624	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	72740494	72740494	+	Silent	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:72740494C>T	ENST00000392613.5	+	6	470	c.414C>T	c.(412-414)atC>atT	p.I138I	RAB37_ENST00000402449.4_Silent_p.I131I|RAB37_ENST00000340415.3_Silent_p.I131I|MIR3615_ENST00000585285.1_RNA|RAB37_ENST00000392612.3_Silent_p.I101I|RAB37_ENST00000392614.4_Silent_p.I143I|RAB37_ENST00000392610.1_Silent_p.I138I|RAB37_ENST00000392615.5_Silent_p.I106I|RAB37_ENST00000528438.1_Silent_p.I111I	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	138					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						ACGTGGTGATCATGCTGCTAG	0.602											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I143I		.											.	RAB37-230	0			c.C429T						.						139.0	117.0	124.0					17																	72740494		2203	4300	6503	SO:0001819	synonymous_variant	326624	exon6			GGTGATCATGCTG	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.414C>T	17.37:g.72740494C>T		62	0	1139	124	10	NM_001163989	0	0	0	0	0	A8MXF5|A8MYT0|Q8IWA7	Silent	SNP	ENST00000392613.5	37	CCDS32722.1																																																																																			.		0.602	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738	
FDXR	2232	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	72862635	72862635	+	Missense_Mutation	SNP	C	C	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:72862635C>G	ENST00000293195.5	-	4	404	c.326G>C	c.(325-327)gGc>gCc	p.G109A	FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000582944.1_Missense_Mutation_p.G101A|FDXR_ENST00000583917.1_Missense_Mutation_p.G110A|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000442102.2_Missense_Mutation_p.G152A|FDXR_ENST00000455107.2_Missense_Mutation_p.G65A|FDXR_ENST00000544854.1_Missense_Mutation_p.G57A|FDXR_ENST00000413947.2_Missense_Mutation_p.G140A|FDXR_ENST00000581530.1_Missense_Mutation_p.G109A	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	109					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	CTCCACGTTGCCCCAGAAGGC	0.647																																					p.G152A		.											.	FDXR-226	0			c.G455C						.						40.0	34.0	36.0					17																	72862635		2203	4300	6503	SO:0001583	missense	2232	exon4			ACGTTGCCCCAGA	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.326G>C	17.37:g.72862635C>G	ENSP00000293195:p.Gly109Ala	184	1		401	102	NM_001258012	0	0	0	0	0	B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312529	0.60414	.	.	ENSG00000161513	ENST00000544854;ENST00000293195;ENST00000455107;ENST00000442102;ENST00000413947	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	M	0.81802	2.56	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.998;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;0.993;0.999;0.987;0.971;0.982;1.0;0.982;1.0	T	0.73113	-0.4085	10	0.72032	D	0.01	-9.4406	18.0275	0.89273	0.0:1.0:0.0:0.0	.	152;140;107;57;140;109;101;109;109	B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;ADRO_HUMAN;.	A	57;109;65;152;140	ENSP00000445432:G57A;ENSP00000293195:G109A;ENSP00000390875:G65A;ENSP00000416515:G152A;ENSP00000408595:G140A	ENSP00000293195:G109A	G	-	2	0	FDXR	70374230	1.000000	0.71417	0.959000	0.39883	0.997000	0.91878	5.771000	0.68881	2.362000	0.80069	0.561000	0.74099	GGC	.		0.647	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110	
DNAH17	8632	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	76424635	76424635	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:76424635delC	ENST00000585328.1	-	77	12668	c.12544delG	c.(12544-12546)gcafs	p.A4182fs	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Frame_Shift_Del_p.A4181fs	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	4181					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCCGTGCCTGCCCCCGAGTCC	0.597																																					p.A4187fs		.											.	DNAH17-142	0			c.12559delG						.						57.0	48.0	51.0					17																	76424635		2203	4300	6503	SO:0001589	frameshift_variant	8632	exon77			TGCCTGCCCCCGA	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.12544delG	17.37:g.76424635delC	ENSP00000465516:p.Ala4182fs	88	0		154	43	NM_173628	0	0	0	0	0	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Frame_Shift_Del	DEL	ENST00000585328.1	37																																																																																				.		0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
TIMP2	7077	hgsc.bcm.edu	37	17	76921135	76921135	+	Silent	SNP	G	G	A	rs577686887	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:76921135G>A	ENST00000262768.7	-	1	334	c.36C>T	c.(34-36)ctC>ctT	p.L12L	TIMP2_ENST00000536189.2_5'Flank	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	12					aging (GO:0007568)|cellular response to organic substance (GO:0071310)|central nervous system development (GO:0007417)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of proteolysis (GO:0045861)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|regulation of Rap protein signal transduction (GO:0032487)|response to cytokine (GO:0034097)|response to drug (GO:0042493)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			GCAGGAGGCCGAGCGCCAGCC	0.781													G|||	90	0.0179712	0.0098	0.0159	5008	,	,		2705	0.0		0.0398	False		,,,				2504	0.0266				p.L12L		.											.	TIMP2-650	0			c.C36T						.						2.0	2.0	2.0					17																	76921135		972	1756	2728	SO:0001819	synonymous_variant	7077	exon1			GAGGCCGAGCGCC		CCDS11758.1	17q25	2008-07-18	2005-08-08		ENSG00000035862	ENSG00000035862			11821	protein-coding gene	gene with protein product		188825	"""tissue inhibitor of metalloproteinase 2"""			1427908	Standard	NM_003255		Approved	CSC-21K	uc002jwf.3	P16035	OTTHUMG00000154517	ENST00000262768.7:c.36C>T	17.37:g.76921135G>A		0	0		17	8	NM_003255	0	0	0	0	0	Q16121|Q93006|Q9UDF7	Silent	SNP	ENST00000262768.7	37	CCDS11758.1																																																																																			.		0.781	TIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335662.1	NM_003255	
BAHCC1	57597	broad.mit.edu	37	17	79410879	79410881	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:79410879_79410881delGAG	ENST00000307745.7	+	10	2260_2262	c.2260_2262delGAG	c.(2260-2262)gagdel	p.E756del	RP11-1055B8.7_ENST00000570375.1_3'UTR																							CCTGGAGGCTGAGGAGGAGAGGA	0.69																																					.		.											.	BAHCC1-23	0			.						.																																			SO:0001651	inframe_deletion	57597	.			GAGGCTGAGGAGG																												ENST00000307745.7:c.2260_2262delGAG	17.37:g.79410885_79410887delGAG	ENSP00000303486:p.Glu756del	30	0		108	11	.	0	0	0	0	0		In_Frame_Del	DEL	ENST00000307745.7	37																																																																																				.		0.690	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			
FASN	2194	hgsc.bcm.edu	37	17	80043739	80043739	+	Silent	SNP	A	A	G	rs2229422	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:80043739A>G	ENST00000306749.2	-	23	3959	c.3741T>C	c.(3739-3741)gcT>gcC	p.A1247A	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1247					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GACCGTGGCCAGCCAGCACCT	0.662													.|||	1182	0.236022	0.1997	0.2032	5008	,	,		16566	0.2877		0.3121	False		,,,				2504	0.1769				p.A1247A	Colon(59;314 1043 11189 28578 32273)	.											.	FASN-90	0			c.T3741C						.	A		966,3322		118,730,1296	9.0	9.0	9.0		3741	-6.6	0.1	17	dbSNP_98	9	2628,5830		429,1770,2030	no	coding-synonymous	FASN	NM_004104.4		547,2500,3326	GG,GA,AA		31.0712,22.528,28.1971		1247/2512	80043739	3594,9152	2144	4229	6373	SO:0001819	synonymous_variant	2194	exon23			GTGGCCAGCCAGC	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.3741T>C	17.37:g.80043739A>G		1	0		10	4	NM_004104	0	0	0	0	0	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	CCDS11801.1																																																																																			T|0.697;G|0.014;C|0.242;A|0.047		0.662	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104	
CSNK1D	1453	broad.mit.edu;ucsc.edu	37	17	80206823	80206823	+	Silent	SNP	G	G	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:80206823G>T	ENST00000314028.6	-	8	1474	c.1125C>A	c.(1123-1125)cgC>cgA	p.R375R	CSNK1D_ENST00000578904.1_5'Flank|CSNK1D_ENST00000398519.5_Silent_p.R375R|CSNK1D_ENST00000392334.2_Silent_p.R375R	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	375					circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			CGGGGGCCCCGCGGTGCAGCC	0.662																																					p.R375R		.											.	CSNK1D-909	0			c.C1125A						.						49.0	44.0	45.0					17																	80206823		2200	4298	6498	SO:0001819	synonymous_variant	1453	exon8			GGCCCCGCGGTGC		CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.1125C>A	17.37:g.80206823G>T		69	1		98	13	NM_001893	0	0	0	0	0	A2I2P2|Q96KZ6|Q9BTN5	Silent	SNP	ENST00000314028.6	37	CCDS11805.1																																																																																			.		0.662	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1	NM_139062	
ANKRD30B	374860	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	14763720	14763720	+	Missense_Mutation	SNP	C	C	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr18:14763720C>A	ENST00000358984.4	+	7	1036	c.856C>A	c.(856-858)Ccc>Acc	p.P286T	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.P286T	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	286								p.P286S(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGAGGCTGCACCCTTGGCGGA	0.478																																					p.P286T		.											.	ANKRD30B-24	1	Substitution - Missense(1)	NS(1)	c.C856A						.						29.0	29.0	29.0					18																	14763720		692	1591	2283	SO:0001583	missense	374860	exon7			GCTGCACCCTTGG	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.856C>A	18.37:g.14763720C>A	ENSP00000351875:p.Pro286Thr	46	0		55	11	NM_001145029	0	0	0	0	0	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	7.635	0.679660	0.14907	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.32272	1.51;1.46	0.235	0.235	0.15431	.	.	.	.	.	T	0.14570	0.0352	N	0.24115	0.695	0.09310	N	1	P	0.50710	0.938	B	0.37943	0.261	T	0.17776	-1.0358	8	0.16420	T	0.52	.	.	.	.	.	286	F8WAG3	.	T	286	ENSP00000351875:P286T;ENSP00000399031:P286T	ENSP00000351875:P286T	P	+	1	0	ANKRD30B	14753720	0.024000	0.19004	0.006000	0.13384	0.006000	0.05464	0.260000	0.18424	0.308000	0.22923	0.313000	0.20887	CCC	.		0.478	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029	
ASXL3	80816	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	31323513	31323513	+	Missense_Mutation	SNP	A	A	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr18:31323513A>T	ENST00000269197.5	+	12	3701	c.3701A>T	c.(3700-3702)aAt>aTt	p.N1234I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1234	Ser-rich.				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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TTTAATAAAAATTCTGTCCCT	0.368																																					p.N1234I		.											.	ASXL3-49	0			c.A3701T						.						80.0	72.0	75.0					18																	31323513		1833	4082	5915	SO:0001583	missense	80816	exon12			ATAAAAATTCTGT	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3701A>T	18.37:g.31323513A>T	ENSP00000269197:p.Asn1234Ile	51	0		37	15	NM_030632	0	0	0	0	0	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990495	0.54041	.	.	ENSG00000141431	ENST00000269197	T	0.52295	0.67	5.68	4.52	0.55395	.	1.356650	0.04419	N	0.367278	T	0.53610	0.1807	L	0.32530	0.975	0.36295	D	0.856635	D	0.57899	0.981	P	0.55161	0.77	T	0.23476	-1.0187	10	0.41790	T	0.15	.	9.2789	0.37716	0.8439:0.0:0.1561:0.0	.	1234	Q9C0F0	ASXL3_HUMAN	I	1234	ENSP00000269197:N1234I	ENSP00000269197:N1234I	N	+	2	0	ASXL3	29577511	0.992000	0.36948	0.984000	0.44739	0.990000	0.78478	1.230000	0.32612	0.991000	0.38814	0.533000	0.62120	AAT	.		0.368	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		
SETBP1	26040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	42531586	42531586	+	Missense_Mutation	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr18:42531586G>A	ENST00000282030.5	+	4	2577	c.2281G>A	c.(2281-2283)Gtg>Atg	p.V761M		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	761						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGTTCCAGCCGTGCCTTCCAA	0.577									Schinzel-Giedion syndrome																												p.V761M		.											.	SETBP1-155	0			c.G2281A						.						52.0	55.0	54.0					18																	42531586		2203	4300	6503	SO:0001583	missense	26040	exon4	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	CCAGCCGTGCCTT	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2281G>A	18.37:g.42531586G>A	ENSP00000282030:p.Val761Met	158	0		152	27	NM_015559	0	0	0	0	0	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680010	0.68042	.	.	ENSG00000152217	ENST00000282030	D	0.90197	-2.63	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.94447	0.8213	L	0.50333	1.59	0.49299	D	0.999777	D	0.89917	1.0	D	0.83275	0.996	D	0.93932	0.7215	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	761	Q9Y6X0	SETBP_HUMAN	M	761	ENSP00000282030:V761M	ENSP00000282030:V761M	V	+	1	0	SETBP1	40785584	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.030000	0.88816	2.941000	0.99782	0.655000	0.94253	GTG	.		0.577	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
SERPINB10	5273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	61587036	61587036	+	Silent	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr18:61587036C>T	ENST00000238508.3	+	5	446	c.387C>T	c.(385-387)gaC>gaT	p.D129D		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	129					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				ATTTAGAAGACATGAAAACAT	0.338																																					p.D129D		.											.	SERPINB10-227	0			c.C387T						.						67.0	82.0	77.0					18																	61587036		2203	4299	6502	SO:0001819	synonymous_variant	5273	exon4			AGAAGACATGAAA	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.387C>T	18.37:g.61587036C>T		87	0		48	7	NM_005024	0	0	0	0	0	Q4VAX4|Q4VAX7	Silent	SNP	ENST00000238508.3	37	CCDS11990.1																																																																																			.		0.338	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024	
CDH7	1005	broad.mit.edu	37	18	63547655	63547655	+	Missense_Mutation	SNP	T	T	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr18:63547655T>C	ENST00000397968.2	+	12	2309	c.1883T>C	c.(1882-1884)gTc>gCc	p.V628A	CDH7_ENST00000323011.3_Missense_Mutation_p.V628A	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	628					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CTCCTTATCGTCACTATGAGA	0.443																																					p.V628A		.											.	CDH7-94	0			c.T1883C						.						53.0	54.0	54.0					18																	63547655		2203	4300	6503	SO:0001583	missense	1005	exon12			TTATCGTCACTAT	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1883T>C	18.37:g.63547655T>C	ENSP00000381058:p.Val628Ala	50	0		55	3	NM_004361	0	0	0	0	0	Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	T	5.013	0.188102	0.09547	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	T;T	0.59638	0.25;0.25	5.71	5.71	0.89125	.	0.354886	0.28301	N	0.015842	T	0.48607	0.1509	L	0.38953	1.18	0.54753	D	0.999986	B	0.02656	0.0	B	0.01281	0.0	T	0.38499	-0.9658	10	0.23302	T	0.38	.	15.9883	0.80179	0.0:0.0:0.0:1.0	.	628	Q9ULB5	CADH7_HUMAN	A	628	ENSP00000319166:V628A;ENSP00000381058:V628A	ENSP00000319166:V628A	V	+	2	0	CDH7	61698635	1.000000	0.71417	0.993000	0.49108	0.243000	0.25628	5.955000	0.70306	2.172000	0.68678	0.533000	0.62120	GTC	.		0.443	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646	
CBLN2	147381	hgsc.bcm.edu	37	18	70209321	70209321	+	Silent	SNP	C	C	A	rs7237888	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr18:70209321C>A	ENST00000269503.4	-	3	848	c.75G>T	c.(73-75)ccG>ccT	p.P25P	CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000585159.1_Silent_p.P25P|CBLN2_ENST00000583651.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	25					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CGCAgccgcccggctcgcgca	0.786													C|||	2820	0.563099	0.1868	0.8573	5008	,	,		7947	0.381		0.9304	False		,,,				2504	0.6728				p.P25P		.											.	CBLN2-90	0			c.G75T						.	C		1660,2420		328,1004,708	5.0	7.0	6.0		75	-0.8	1.0	18	dbSNP_116	6	7475,487		3530,415,36	no	coding-synonymous	CBLN2	NM_182511.3		3858,1419,744	AA,AC,CC		6.1166,40.6863,24.1405		25/225	70209321	9135,2907	2040	3981	6021	SO:0001819	synonymous_variant	147381	exon3			GCCGCCCGGCTCG	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.75G>T	18.37:g.70209321C>A		0	0		8	8	NM_182511	0	0	0	0	0	Q53Z56	Silent	SNP	ENST00000269503.4	37	CCDS11999.1																																																																																			C|0.390;A|0.610		0.786	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511	
SALL3	27164	hgsc.bcm.edu	37	18	76753768	76753768	+	Missense_Mutation	SNP	C	C	G	rs2447437	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr18:76753768C>G	ENST00000537592.2	+	2	1777	c.1777C>G	c.(1777-1779)Ctc>Gtc	p.L593V	SALL3_ENST00000575389.2_Missense_Mutation_p.L593V|SALL3_ENST00000536229.3_Missense_Mutation_p.L460V	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	593			L -> V (in dbSNP:rs2447437). {ECO:0000269|Ref.1}.		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)	p.L593V(1)		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)		CGGGCCGCCCCTCACTAAAGC	0.731													C|||	3973	0.793331	0.5825	0.8444	5008	,	,		9900	0.9226		0.8648	False		,,,				2504	0.8354				p.L593V		.											.	SALL3-155	1	Substitution - Missense(1)	prostate(1)	c.C1777G						.	C	VAL/LEU	2422,1000		875,672,164	3.0	4.0	4.0		1777	5.2	0.2	18	dbSNP_100	4	6372,926		2808,756,85	yes	missense	SALL3	NM_171999.2	32	3683,1428,249	GG,GC,CC		12.6884,29.2227,17.9664	benign	593/1301	76753768	8794,1926	1711	3649	5360	SO:0001583	missense	27164	exon2			CCGCCCCTCACTA	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.1777C>G	18.37:g.76753768C>G	ENSP00000441823:p.Leu593Val	0	0		6	6	NM_171999	0	0	0	0	0	Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	1724	0.7893772893772893	287	0.5833333333333334	299	0.8259668508287292	511	0.8933566433566433	627	0.8271767810026385	C	0.073	-1.197989	0.01594	0.707773	0.873116	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.08984	3.03	5.2	5.2	0.72013	.	0.464067	0.17974	N	0.155779	T	0.00012	0.0000	L	0.35288	1.05	0.80722	P	0.0	B;B	0.15473	0.013;0.006	B;B	0.18561	0.022;0.002	T	0.36237	-0.9756	9	0.14656	T	0.56	-21.7235	10.231	0.43256	0.2471:0.6277:0.1252:0.0	rs2447437	325;593	F5GXY4;Q9BXA9	.;SALL3_HUMAN	V	593;593;325	ENSP00000441823:L593V	ENSP00000299466:L593V	L	+	1	0	SALL3	74854756	0.002000	0.14202	0.157000	0.22605	0.006000	0.05464	0.292000	0.19011	2.584000	0.87258	0.563000	0.77884	CTC	C|0.780;G|0.220		0.731	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999	
MISP	126353	bcgsc.ca	37	19	756985	756985	+	Silent	SNP	T	T	G	rs8110536	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:756985T>G	ENST00000215582.6	+	2	142	c.39T>G	c.(37-39)ccT>ccG	p.P13P		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	13					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TGGGCATCCCTCAGGCACACC	0.652													G|||	940	0.1877	0.09	0.2291	5008	,	,		20137	0.3552		0.163	False		,,,				2504	0.1431				p.P13P		.											.	C19orf21-91	0			c.T39G						.	G		440,3962		21,398,1782	27.0	24.0	25.0		39	-8.5	0.0	19	dbSNP_116	25	1315,7279		95,1125,3077	no	coding-synonymous	C19orf21	NM_173481.2		116,1523,4859	GG,GT,TT		15.3014,9.9955,13.5042		13/680	756985	1755,11241	2201	4297	6498	SO:0001819	synonymous_variant	126353	exon2			CATCCCTCAGGCA	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.39T>G	19.37:g.756985T>G		128	0		337	10	NM_173481	0	0	0	0	0		Silent	SNP	ENST00000215582.6	37	CCDS12042.1																																																																																			T|0.840;G|0.160		0.652	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481	
ARID3A	1820	hgsc.bcm.edu	37	19	929678	929678	+	Silent	SNP	G	G	A	rs3826948	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:929678G>A	ENST00000263620.3	+	2	477	c.150G>A	c.(148-150)gaG>gaA	p.E50E	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	50						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAGCCCGAGAGTGCCCGGA	0.766													g|||	2308	0.460863	0.1112	0.487	5008	,	,		7932	0.6756		0.6223	False		,,,				2504	0.5276				p.E50E	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.G150A						.	G		470,2552		61,348,1102	3.0	4.0	3.0		150	1.1	0.4	19	dbSNP_107	3	3721,3153		1076,1569,792	no	coding-synonymous	ARID3A	NM_005224.2		1137,1917,1894	AA,AG,GG		45.8685,15.5526,42.3504		50/594	929678	4191,5705	1511	3437	4948	SO:0001819	synonymous_variant	1820	exon2			GCCCGAGAGTGCC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.150G>A	19.37:g.929678G>A		0	0		8	6	NM_005224	0	0	0	0	0	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			T|0.495;C|0.504		0.766	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224	
GRIN3B	116444	hgsc.bcm.edu	37	19	1009551	1009577	+	In_Frame_Del	DEL	GCCCCCGCGGAGGCCCCACCACACTCT	GCCCCCGCGGAGGCCCCACCACACTCT	-	rs573396231|rs58448123|rs142516571	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	GCCCCCGCGGAGGCCCCACCACACTCT	GCCCCCGCGGAGGCCCCACCACACTCT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:1009551_1009577delGCCCCCGCGGAGGCCCCACCACACTCT	ENST00000234389.3	+	9	3101_3127	c.3082_3108delGCCCCCGCGGAGGCCCCACCACACTCT	c.(3082-3108)gcccccgcggaggccccaccacactctdel	p.APAEAPPHS1028del		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	1028					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGCCAGAGCGGCCCCCGCGGAGGCCCCACCACACTCTGGCCGACCGG	0.692														895	0.178714	0.1959	0.1744	5008	,	,		11397	0.1042		0.2167	False		,,,				2504	0.1963				p.1028_1036del		.											.	GRIN3B-90	0			c.3082_3108del						.			362,1598		137,88,755						-8.8	0.0		dbSNP_129	2	883,3849		318,247,1801	no	coding	GRIN3B	NM_138690.1		455,335,2556	A1A1,A1R,RR		18.6602,18.4694,18.6043				1245,5447				SO:0001651	inframe_deletion	116444	exon9			AGAGCGGCCCCCG		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.3082_3108delGCCCCCGCGGAGGCCCCACCACACTCT	19.37:g.1009551_1009577delGCCCCCGCGGAGGCCCCACCACACTCT	ENSP00000234389:p.Ala1028_Ser1036del	0	0		18	17	NM_138690	0	0	0	0	0	Q5EAK7|Q7RTW9	In_Frame_Del	DEL	ENST00000234389.3	37	CCDS32861.1																																																																																			.		0.692	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2		
ABCA7	10347	hgsc.bcm.edu	37	19	1065044	1065044	+	Silent	SNP	C	C	T	rs4147935	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:1065044C>T	ENST00000263094.6	+	46	6390	c.6159C>T	c.(6157-6159)ggC>ggT	p.G2053G	HMHA1_ENST00000313093.2_5'Flank|HMHA1_ENST00000590214.1_5'Flank|ABCA7_ENST00000435683.2_Silent_p.G1915G|HMHA1_ENST00000586866.1_5'Flank|HMHA1_ENST00000536472.1_5'Flank|ABCA7_ENST00000433129.1_Silent_p.G2053G|HMHA1_ENST00000539243.2_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		1	0		27	19	NM_019112	0	0	0	0	0	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	
CREB3L3	84699	broad.mit.edu	37	19	4168347	4168347	+	Splice_Site	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:4168347G>A	ENST00000078445.2	+	6	861		c.e6-1		CREB3L3_ENST00000602257.1_Splice_Site|CREB3L3_ENST00000602147.1_Intron|CREB3L3_ENST00000595923.1_Splice_Site|CREB3L3_ENST00000252587.3_Splice_Site	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACTTGGCAGTACGAGGAGC	0.552																																					.		.											.	CREB3L3-92	0			c.712-1G>A						.						48.0	49.0	49.0					19																	4168347		2203	4300	6503	SO:0001630	splice_region_variant	84699	exon6			TTGGCAGTACGAG		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.715-1G>A	19.37:g.4168347G>A		46	2		66	25	NM_001271995	0	0	0	0	0	B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Splice_Site	SNP	ENST00000078445.2	37	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290981	0.59976	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3508	0.87323	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CREB3L3	4119347	1.000000	0.71417	0.911000	0.35937	0.524000	0.34500	8.943000	0.92975	2.507000	0.84556	0.655000	0.94253	.	.		0.552	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607	Intron
KDM4B	23030	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	5041154	5041154	+	Silent	SNP	T	T	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:5041154T>C	ENST00000159111.4	+	5	542	c.324T>C	c.(322-324)tgT>tgC	p.C108C	KDM4B_ENST00000536461.1_Silent_p.C108C|KDM4B_ENST00000381759.4_Silent_p.C108C	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	108					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCAGGTACTGTACCCCGCGGC	0.577																																					p.C108C		.											.	KDM4B-226	0			c.T324C						.						107.0	95.0	99.0					19																	5041154		2203	4300	6503	SO:0001819	synonymous_variant	23030	exon5			GTACTGTACCCCG	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.324T>C	19.37:g.5041154T>C		104	0		140	12	NM_015015	0	0	0	0	0	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	CCDS12138.1																																																																																			.		0.577	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015	
C3	718	broad.mit.edu;bcgsc.ca	37	19	6684638	6684638	+	Silent	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:6684638C>T	ENST00000245907.6	-	32	4145	c.4053G>A	c.(4051-4053)aaG>aaA	p.K1351K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1351					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GATCTTTGGCCTTAGCATGGT	0.488																																					p.K1351K		.											.	C3-95	0			c.G4053A						.						245.0	211.0	223.0					19																	6684638		2203	4300	6503	SO:0001819	synonymous_variant	718	exon32			TTTGGCCTTAGCA	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4053G>A	19.37:g.6684638C>T		140	1		180	11	NM_000064	0	0	0	0	0	A7E236	Silent	SNP	ENST00000245907.6	37	CCDS32883.1																																																																																			.		0.488	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
KEAP1	9817	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	10600462	10600462	+	Missense_Mutation	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:10600462C>T	ENST00000171111.5	-	4	1940	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	KEAP1_ENST00000393623.2_Missense_Mutation_p.V465M|KEAP1_ENST00000588024.1_5'Flank|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	465					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	AGGACAGCCACGCCCACCCCG	0.572																																					p.V465M		.											.	KEAP1-637	0			c.G1393A						.						67.0	55.0	59.0					19																	10600462		2203	4300	6503	SO:0001583	missense	9817	exon4			CAGCCACGCCCAC	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1393G>A	19.37:g.10600462C>T	ENSP00000171111:p.Val465Met	60	0		264	27	NM_012289	0	0	0	0	0	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769885	0.90020	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.79033	-1.23;-1.23	5.79	5.79	0.91817	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.88020	0.6325	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.88687	0.3206	10	0.87932	D	0	.	17.5827	0.87973	0.0:1.0:0.0:0.0	.	465	Q14145	KEAP1_HUMAN	M	465	ENSP00000171111:V465M;ENSP00000377245:V465M	ENSP00000171111:V465M	V	-	1	0	KEAP1	10461462	1.000000	0.71417	0.976000	0.42696	0.758000	0.43043	5.775000	0.68915	2.752000	0.94435	0.558000	0.71614	GTG	.		0.572	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289	
SMARCA4	6597	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	11097013	11097013	+	Silent	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:11097013C>T	ENST00000429416.3	+	5	785	c.504C>T	c.(502-504)ggC>ggT	p.G168G	SMARCA4_ENST00000541122.2_Silent_p.G168G|SMARCA4_ENST00000358026.2_Silent_p.G168G|SMARCA4_ENST00000590574.1_Silent_p.G168G|SMARCA4_ENST00000589677.1_Silent_p.G168G|SMARCA4_ENST00000444061.3_Silent_p.G168G|SMARCA4_ENST00000413806.3_Silent_p.G168G|SMARCA4_ENST00000344626.4_Silent_p.G168G|SMARCA4_ENST00000450717.3_Silent_p.G168G	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	168	Necessary for interaction with SS18L1/CREST. {ECO:0000250}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGAACCGGGGCCCAACCCCAT	0.667			"""F, N, Mis"""		NSCLC																																p.G168G		.		Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	.	SMARCA4-1523	1	Unknown(1)	lung(1)	c.C504T						.						26.0	22.0	23.0					19																	11097013		2201	4299	6500	SO:0001819	synonymous_variant	6597	exon4			CCGGGGCCCAACC	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.504C>T	19.37:g.11097013C>T		50	0		136	17	NM_003072	0	0	0	0	0	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	CCDS12253.1																																																																																			.		0.667	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	
NOTCH3	4854	ucsc.edu	37	19	15284881	15284881	+	Silent	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:15284881G>A	ENST00000263388.2	-	25	4809	c.4734C>T	c.(4732-4734)atC>atT	p.I1578I		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1578					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCACTCACCCGATCACCTCGG	0.627																																					p.I1578I		.											.	NOTCH3-855	0			c.C4734T						.						17.0	24.0	22.0					19																	15284881		2173	4260	6433	SO:0001819	synonymous_variant	4854	exon25			TCACCCGATCACC	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.4734C>T	19.37:g.15284881G>A		21	1		111	19	NM_000435	0	0	0	0	0	Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	CCDS12326.1																																																																																			.		0.627	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	
NCAN	1463	broad.mit.edu	37	19	19339014	19339014	+	Missense_Mutation	SNP	A	A	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:19339014A>C	ENST00000252575.6	+	8	2684	c.2585A>C	c.(2584-2586)cAg>cCg	p.Q862P	NCAN_ENST00000538881.1_Missense_Mutation_p.Q313P	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	862					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TTGAGCCCTCAGGTGGCCCTG	0.582																																					p.Q862P		.											.	NCAN-94	0			c.A2585C						.						82.0	84.0	84.0					19																	19339014		2203	4300	6503	SO:0001583	missense	1463	exon8			GCCCTCAGGTGGC	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2585A>C	19.37:g.19339014A>C	ENSP00000252575:p.Gln862Pro	58	0		105	3	NM_004386	0	0	0	0	0	Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	A	5.643	0.303284	0.10678	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.84944	-1.79;-1.92	3.47	-6.95	0.01628	.	1.618630	0.04150	N	0.321063	T	0.71091	0.3299	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.55976	-0.8055	10	0.42905	T	0.14	.	2.5614	0.04772	0.1569:0.4634:0.1748:0.2048	.	876;862	Q4LE67;O14594	.;NCAN_HUMAN	P	876;862;313	ENSP00000252575:Q862P;ENSP00000442202:Q313P	ENSP00000252575:Q862P	Q	+	2	0	NCAN	19200014	0.000000	0.05858	0.000000	0.03702	0.178000	0.23041	-2.364000	0.01080	-2.597000	0.00453	-0.512000	0.04463	CAG	.		0.582	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386	
TSHZ3	57616	ucsc.edu;bcgsc.ca	37	19	31770605	31770605	+	Missense_Mutation	SNP	G	G	A	rs200205002	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:31770605G>A	ENST00000240587.4	-	2	421	c.94C>T	c.(94-96)Cca>Tca	p.P32S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	32					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTCCTCTGGGTCTAAACCT	0.582													G|||	3	0.000599042	0.0	0.0	5008	,	,		15712	0.003		0.0	False		,,,				2504	0.0				p.P32S		.											.	TSHZ3-232	0			c.C94T						.						55.0	56.0	56.0					19																	31770605		1964	4161	6125	SO:0001583	missense	57616	exon2			CCTCTGGGTCTAA	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.94C>T	19.37:g.31770605G>A	ENSP00000240587:p.Pro32Ser	26	0		39	5	NM_020856	0	0	0	0	0	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	0.017	-1.505918	0.00992	.	.	ENSG00000121297	ENST00000240587	T	0.10668	2.85	5.92	2.55	0.30701	.	0.481200	0.19635	U	0.109590	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.31280	-0.9949	10	0.30078	T	0.28	-3.5459	15.369	0.74548	0.0:0.3875:0.5142:0.0983	.	32	Q63HK5	TSH3_HUMAN	S	32	ENSP00000240587:P32S	ENSP00000240587:P32S	P	-	1	0	TSHZ3	36462445	1.000000	0.71417	0.003000	0.11579	0.002000	0.02628	2.151000	0.42263	0.098000	0.17522	-0.810000	0.03169	CCA	G|0.999;A|0.001		0.582	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
GPATCH1	55094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	33579080	33579080	+	Silent	SNP	T	T	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:33579080T>A	ENST00000170564.2	+	2	428	c.114T>A	c.(112-114)acT>acA	p.T38T		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	38					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AGGATCAGACTGTCAGAGATG	0.373																																					p.T38T	Pancreas(67;88 1713 4567 18227)	.											.	GPATCH1-91	0			c.T114A						.						81.0	79.0	80.0					19																	33579080		2203	4300	6503	SO:0001819	synonymous_variant	55094	exon2			TCAGACTGTCAGA	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.114T>A	19.37:g.33579080T>A		31	0		45	11	NM_018025	0	0	0	0	0	Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	CCDS12428.1																																																																																			.		0.373	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	
ETV2	2116	broad.mit.edu	37	19	36135558	36135558	+	Missense_Mutation	SNP	C	C	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:36135558C>A	ENST00000403402.1	+	6	1139	c.833C>A	c.(832-834)gCt>gAt	p.A278D	ETV2_ENST00000379026.2_Missense_Mutation_p.A306D|ETV2_ENST00000479824.1_Missense_Mutation_p.A185D|ETV2_ENST00000379023.4_Missense_Mutation_p.A91D|ETV2_ENST00000402764.2_Missense_Mutation_p.A278D			O00321	ETV2_HUMAN	ets variant 2	278					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTAGGTGGCTCGGCTGTGG	0.677																																					p.A278D		.											.	ETV2-226	0			c.C833A						.						17.0	18.0	18.0					19																	36135558		2195	4278	6473	SO:0001583	missense	2116	exon7			AGGTGGCTCGGCT	AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"""ets variant gene 2"""			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.833C>A	19.37:g.36135558C>A	ENSP00000385369:p.Ala278Asp	48	1		154	10	NM_014209	0	0	0	0	0	A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Missense_Mutation	SNP	ENST00000403402.1	37	CCDS32995.2	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946747	0.92593	.	.	ENSG00000105672	ENST00000379026;ENST00000402764;ENST00000379023;ENST00000403402	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	4.51	4.51	0.55191	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.302462	0.25135	N	0.032880	T	0.68970	0.3059	M	0.93420	3.415	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;0.997	D;D;D;D	0.97110	1.0;0.964;1.0;0.964	T	0.78275	-0.2267	10	0.87932	D	0	.	14.7549	0.69557	0.0:1.0:0.0:0.0	.	91;277;306;278	Q3KNT2;O00321;A6NFN5;B9EIN1	.;ETV2_HUMAN;.;.	D	306;278;91;278	ENSP00000368312:A306D;ENSP00000384524:A278D;ENSP00000368309:A91D;ENSP00000385369:A278D	ENSP00000368309:A91D	A	+	2	0	ETV2	40827398	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	7.210000	0.77924	2.335000	0.79485	0.505000	0.49811	GCT	.		0.677	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318848.2	XM_209182	
SIPA1L3	23094	hgsc.bcm.edu	37	19	38573068	38573068	+	Missense_Mutation	SNP	C	C	T	rs150674546	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:38573068C>T	ENST00000222345.6	+	3	1372	c.863C>T	c.(862-864)gCg>gTg	p.A288V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	288					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)			AAGAAACCTGCGCGGGGCCTC	0.697													C|||	36	0.0071885	0.0	0.0202	5008	,	,		13770	0.0		0.0189	False		,,,				2504	0.0031				p.A288V		.											.	SIPA1L3-91	0			c.C863T						.	C	VAL/ALA	3,3473		0,3,1735	6.0	8.0	7.0		863	-10.8	0.0	19	dbSNP_134	7	80,7014		0,80,3467	yes	missense	SIPA1L3	NM_015073.1	64	0,83,5202	TT,TC,CC		1.1277,0.0863,0.7852	benign	288/1782	38573068	83,10487	1738	3547	5285	SO:0001583	missense	23094	exon3			AACCTGCGCGGGG	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.863C>T	19.37:g.38573068C>T	ENSP00000222345:p.Ala288Val	2	0		27	15	NM_015073	0	0	0	0	0	Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	CCDS33007.1	23	0.010531135531135532	0	0.0	9	0.024861878453038673	0	0.0	14	0.018469656992084433	C	4.163	0.028743	0.08054	8.63E-4	0.011277	ENSG00000105738	ENST00000222345	T	0.75154	-0.91	5.38	-10.8	0.00216	.	0.837572	0.10759	N	0.637472	T	0.29389	0.0732	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.42616	-0.9441	10	0.02654	T	1	-0.5382	13.7085	0.62654	0.0:0.5756:0.0903:0.3341	.	288	O60292	SI1L3_HUMAN	V	288	ENSP00000222345:A288V	ENSP00000222345:A288V	A	+	2	0	SIPA1L3	43264908	0.000000	0.05858	0.000000	0.03702	0.323000	0.28346	-1.097000	0.03349	-2.556000	0.00476	-1.350000	0.01237	GCG	C|0.989;T|0.011		0.697	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	
GGN	199720	hgsc.bcm.edu	37	19	38876464	38876464	+	Missense_Mutation	SNP	C	C	G	rs11083455	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:38876464C>G	ENST00000334928.6	-	3	1570	c.1438G>C	c.(1438-1440)Gca>Cca	p.A480P	AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	480	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			gcaggggctgcggtgggagcc	0.756													G|||	1149	0.229433	0.1437	0.2522	5008	,	,		9781	0.4514		0.1074	False		,,,				2504	0.226				p.A480P		.											.	GGN-90	0			c.G1438C						.	G	PRO/ALA	210,3338		0,210,1564	3.0	4.0	3.0		1438	2.6	0.0	19	dbSNP_120	3	369,6773		3,363,3205	no	missense	GGN	NM_152657.3	27	3,573,4769	GG,GC,CC		5.1666,5.9188,5.4163	benign	480/653	38876464	579,10111	1774	3571	5345	SO:0001583	missense	199720	exon3			GGGCTGCGGTGGG	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1438G>C	19.37:g.38876464C>G	ENSP00000334940:p.Ala480Pro	0	0		11	6	NM_152657	0	0	0	0	0	Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	CCDS12516.1	461	0.21108058608058608	72	0.14634146341463414	65	0.17955801104972377	262	0.458041958041958	62	0.08179419525065963	G	1.972	-0.436347	0.04636	0.059188	0.051666	ENSG00000179168	ENST00000334928	.	.	.	3.69	2.63	0.31362	.	0.580033	0.13105	N	0.413421	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47649	-0.9101	8	0.09843	T	0.71	0.5499	9.8256	0.40910	0.0:0.4094:0.5906:0.0	rs11083455;rs60130214	397;480	Q86UU5-2;Q86UU5	.;GGN_HUMAN	P	480	.	ENSP00000334940:A480P	A	-	1	0	GGN	43568304	0.365000	0.25006	0.001000	0.08648	0.091000	0.18340	0.603000	0.24149	0.245000	0.21373	-0.371000	0.07208	GCA	C|0.789;G|0.211		0.756	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657	
FAM98C	147965	hgsc.bcm.edu	37	19	38894307	38894307	+	Missense_Mutation	SNP	G	G	A	rs150024474	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:38894307G>A	ENST00000252530.5	+	3	341	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	FAM98C_ENST00000343358.7_Missense_Mutation_p.E108K|FAM98C_ENST00000585954.1_3'UTR|FAM98C_ENST00000588262.1_Missense_Mutation_p.E108K	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	108										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGCGCTTCGGGAACCCGGTGC	0.701													G|||	163	0.0325479	0.0567	0.0187	5008	,	,		8213	0.0		0.0378	False		,,,				2504	0.0378				p.E108K		.											.	FAM98C-91	0			c.G322A						.	G	LYS/GLU	88,3112		0,88,1512	3.0	4.0	4.0		322	0.3	0.6	19	dbSNP_134	4	135,6981		0,135,3423	yes	missense	FAM98C	NM_174905.3	56	0,223,4935	AA,AG,GG		1.8971,2.75,2.1617	benign	108/350	38894307	223,10093	1600	3558	5158	SO:0001583	missense	147965	exon3			CTTCGGGAACCCG		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.322G>A	19.37:g.38894307G>A	ENSP00000252530:p.Glu108Lys	1	0		12	9	NM_174905	0	0	0	0	0	A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	CCDS42562.1	70	0.03205128205128205	34	0.06910569105691057	6	0.016574585635359115	0	0.0	30	0.0395778364116095	g	0.538	-0.854682	0.02630	0.0275	0.018971	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.40476	1.03;1.03	3.77	0.289	0.15723	.	0.714837	0.11500	U	0.557841	T	0.01523	0.0049	N	0.17872	0.535	0.09310	N	1	B;B	0.17268	0.021;0.006	B;B	0.15484	0.013;0.007	T	0.15150	-1.0447	10	0.16896	T	0.51	-13.154	3.9581	0.09399	0.3104:0.1826:0.507:0.0	.	108;108	Q17RN3-2;Q17RN3	.;FA98C_HUMAN	K	108	ENSP00000252530:E108K;ENSP00000340348:E108K	ENSP00000252530:E108K	E	+	1	0	FAM98C	43586147	0.000000	0.05858	0.571000	0.28486	0.022000	0.10575	-0.097000	0.11042	0.297000	0.22615	-0.393000	0.06486	GAA	G|0.968;A|0.032		0.701	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905	
MAP3K10	4294	hgsc.bcm.edu	37	19	40720079	40720079	+	Silent	SNP	C	C	T	rs3746005	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:40720079C>T	ENST00000253055.3	+	9	2781	c.2493C>T	c.(2491-2493)gaC>gaT	p.D831D		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	831					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CGCCATCGGACGGGGCGCTGG	0.716													C|||	3754	0.749601	0.7753	0.7392	5008	,	,		8943	0.6974		0.7485	False		,,,				2504	0.7771				p.D831D		.											.	MAP3K10-981	0			c.C2493T						.	C		2775,495		1188,399,48	2.0	3.0	3.0		2493	-3.8	0.9	19	dbSNP_107	3	5211,1383		2065,1081,151	no	coding-synonymous	MAP3K10	NM_002446.3		3253,1480,199	TT,TC,CC		20.9736,15.1376,19.0389		831/955	40720079	7986,1878	1635	3297	4932	SO:0001819	synonymous_variant	4294	exon9			ATCGGACGGGGCG	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.2493C>T	19.37:g.40720079C>T		0	0		4	4	NM_002446	0	0	0	0	0	Q12761|Q14871	Silent	SNP	ENST00000253055.3	37	CCDS12549.1																																																																																			C|0.260;T|0.740		0.716	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446	
CYP2B6	1555	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	41509976	41509976	+	Missense_Mutation	SNP	T	T	C	rs138912615		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:41509976T>C	ENST00000324071.4	+	2	249	c.242T>C	c.(241-243)gTa>gCa	p.V81A	CYP2B6_ENST00000593831.1_Missense_Mutation_p.V5A|CYP2B6_ENST00000330446.5_Missense_Mutation_p.V41A|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	81					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CTGTGTGGAGTAGAGGCCATA	0.592																																					p.V81A		.											.	CYP2B6-92	0			c.T242C						.	T	ALA/VAL	0,4406		0,0,2203	79.0	80.0	80.0		242	-8.3	0.0	19	dbSNP_134	80	1,8599		0,1,4299	no	missense	CYP2B6	NM_000767.4	64	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	81/492	41509976	1,13005	2203	4300	6503	SO:0001583	missense	1555	exon2			GTGGAGTAGAGGC	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.242T>C	19.37:g.41509976T>C	ENSP00000324648:p.Val81Ala	180	0		355	46	NM_000767	0	0	0	0	0	B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	14.26	2.482372	0.44147	0.0	1.16E-4	ENSG00000197408	ENST00000324071;ENST00000330446	T;T	0.66638	5.16;-0.22	4.15	-8.3	0.01005	.	0.601481	0.17820	N	0.160889	T	0.31167	0.0788	N	0.03016	-0.435	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.19391	0.004;0.025	T	0.14671	-1.0464	10	0.87932	D	0	.	5.4949	0.16797	0.5622:0.1959:0.0:0.2418	.	41;81	B4DWP3;P20813	.;CP2B6_HUMAN	A	81;41	ENSP00000324648:V81A;ENSP00000330650:V41A	ENSP00000324648:V81A	V	+	2	0	CYP2B6	46201816	0.000000	0.05858	0.000000	0.03702	0.387000	0.30353	0.093000	0.15086	-1.643000	0.01519	-0.460000	0.05396	GTA	T|1.000;C|0.000		0.592	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767	
CEACAM6	4680	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	42270108	42270108	+	Missense_Mutation	SNP	T	T	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:42270108T>C	ENST00000199764.6	+	5	1194	c.976T>C	c.(976-978)Tca>Cca	p.S326P	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	326					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		TCCTGTCCTCTCAGCTGTGGC	0.517																																					p.S326P		.											.	CEACAM6-91	0			c.T976C						.						143.0	124.0	130.0					19																	42270108		2203	4300	6503	SO:0001583	missense	4680	exon5			GTCCTCTCAGCTG	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.976T>C	19.37:g.42270108T>C	ENSP00000199764:p.Ser326Pro	92	0		176	16	NM_002483	0	0	0	0	0	Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	37	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550350	0.27739	.	.	ENSG00000086548	ENST00000199764	T	0.22336	1.96	1.61	0.467	0.16721	.	.	.	.	.	T	0.31295	0.0792	L	0.52905	1.665	0.09310	N	1	D	0.71674	0.998	D	0.75484	0.986	T	0.20472	-1.0274	9	0.21014	T	0.42	.	3.6825	0.08316	0.0:0.2221:0.0:0.7779	.	326	P40199	CEAM6_HUMAN	P	326	ENSP00000199764:S326P	ENSP00000199764:S326P	S	+	1	0	CEACAM6	46961948	0.002000	0.14202	0.004000	0.12327	0.008000	0.06430	0.138000	0.16016	0.053000	0.16036	0.377000	0.23210	TCA	.		0.517	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1		
DMRTC2	63946	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	42354402	42354402	+	Missense_Mutation	SNP	C	C	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:42354402C>G	ENST00000269945.3	+	7	829	c.778C>G	c.(778-780)Ccc>Gcc	p.P260A	DMRTC2_ENST00000596827.1_Missense_Mutation_p.P260A	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	260	Pro-rich.				male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GATACTCCAGCCCTGTGGCAC	0.527																																					p.P260A		.											.	DMRTC2-90	0			c.C778G						.						221.0	230.0	227.0					19																	42354402		2203	4300	6503	SO:0001583	missense	63946	exon7			CTCCAGCCCTGTG	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.778C>G	19.37:g.42354402C>G	ENSP00000269945:p.Pro260Ala	92	0		127	20	NM_001040283	0	0	0	0	0	Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.925020	0.34002	.	.	ENSG00000142025	ENST00000269945	T	0.30981	1.51	4.85	1.5	0.22942	.	0.478233	0.18613	N	0.136089	T	0.25044	0.0608	M	0.63843	1.955	0.23174	N	0.998172	P;B	0.37441	0.595;0.088	B;B	0.34931	0.192;0.033	T	0.09862	-1.0655	10	0.33940	T	0.23	-1.8851	5.9172	0.19061	0.0:0.59:0.0:0.41	.	260;260	B4DX56;Q8IXT2	.;DMRTD_HUMAN	A	260	ENSP00000269945:P260A	ENSP00000269945:P260A	P	+	1	0	DMRTC2	47046242	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.816000	0.27267	0.432000	0.26286	-0.469000	0.05056	CCC	.		0.527	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283	
CIC	23152	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	42795782	42795782	+	Missense_Mutation	SNP	T	T	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:42795782T>A	ENST00000575354.2	+	11	2811	c.2771T>A	c.(2770-2772)gTg>gAg	p.V924E	CIC_ENST00000160740.3_Missense_Mutation_p.V924E|CIC_ENST00000572681.2_Missense_Mutation_p.V1833E	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	924	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGGTCCTAGTGCCTCTGGCC	0.652			"""Mis, F, S"""		oligodendroglioma																																p.V924E		.		Rec	yes		19	19q13.2	23152	capicua homolog		O	.	CIC-591	0			c.T2771A						.						58.0	69.0	65.0					19																	42795782		2166	4255	6421	SO:0001583	missense	23152	exon11			TCCTAGTGCCTCT	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2771T>A	19.37:g.42795782T>A	ENSP00000458663:p.Val924Glu	43	0		145	28	NM_015125	0	0	0	0	0	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.068654	0.36470	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	T	0.46600	0.1401	L	0.29908	0.895	0.45995	D	0.998806	P	0.51240	0.943	P	0.46758	0.526	T	0.51872	-0.8650	8	0.87932	D	0	-11.5366	12.0538	0.53522	0.0:0.0:0.0:1.0	.	924	Q96RK0	CIC_HUMAN	E	924	.	ENSP00000160740:V924E	V	+	2	0	CIC	47487622	1.000000	0.71417	0.999000	0.59377	0.478000	0.33099	4.801000	0.62532	1.960000	0.56953	0.459000	0.35465	GTG	.		0.652	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2		
GRIN2D	2906	hgsc.bcm.edu	37	19	48945880	48945880	+	Silent	SNP	T	T	C	rs62130268	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:48945880T>C	ENST00000263269.3	+	13	2785	c.2697T>C	c.(2695-2697)gcT>gcC	p.A899A		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	899					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTGCAGCGCTGAGGCCGCCC	0.781													c|||	3742	0.747204	0.6188	0.8545	5008	,	,		4716	0.6548		0.8887	False		,,,				2504	0.7945				p.A899A		.											.	GRIN2D-156	0			c.T2697C						.			1689,437		638,413,12	1.0	1.0	1.0		2697	-3.3	1.0	19	dbSNP_129	1	3712,202		1757,198,2	no	coding-synonymous	GRIN2D	NM_000836.2		2395,611,14	CC,CT,TT		5.161,20.555,10.5795		899/1337	48945880	5401,639	1063	1957	3020	SO:0001819	synonymous_variant	2906	exon13			CAGCGCTGAGGCC	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2697T>C	19.37:g.48945880T>C		0	0		6	6	NM_000836	0	0	0	0	0		Silent	SNP	ENST00000263269.3	37	CCDS12719.1																																																																																			T|0.245;C|0.755		0.781	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1		
SCAF1	58506	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	50157674	50157674	+	Missense_Mutation	SNP	C	C	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:50157674C>G	ENST00000360565.3	+	8	3509	c.3385C>G	c.(3385-3387)Cag>Gag	p.Q1129E		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1129					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGAGCTGATCCAGGCCACCAA	0.617																																					p.Q1129E		.											.	SCAF1-68	0			c.C3385G						.						27.0	26.0	26.0					19																	50157674		2203	4300	6503	SO:0001583	missense	58506	exon8			CTGATCCAGGCCA	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3385C>G	19.37:g.50157674C>G	ENSP00000353769:p.Gln1129Glu	97	0		196	37	NM_021228	0	0	0	0	0	Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	c	14.49	2.551764	0.45487	.	.	ENSG00000126461	ENST00000360565	T	0.38077	1.16	5.1	5.1	0.69264	.	0.000000	0.43416	D	0.000573	T	0.45478	0.1344	L	0.27053	0.805	0.53005	D	0.999961	D	0.67145	0.996	D	0.76071	0.987	T	0.14755	-1.0461	10	0.15066	T	0.55	-32.5772	17.4355	0.87550	0.0:1.0:0.0:0.0	.	1129	Q9H7N4	SFR19_HUMAN	E	1129	ENSP00000353769:Q1129E	ENSP00000353769:Q1129E	Q	+	1	0	SCAF1	54849486	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.235000	0.72332	2.651000	0.90000	0.651000	0.88453	CAG	.		0.617	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228	
PNKP	11284	broad.mit.edu	37	19	50370414	50370414	+	Silent	SNP	A	A	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:50370414A>G	ENST00000322344.3	-	2	157	c.48T>C	c.(46-48)ccT>ccC	p.P16P	PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000596014.1_Silent_p.P16P|PNKP_ENST00000600910.1_Silent_p.P16P|PNKP_ENST00000600573.1_Silent_p.P16P	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	16	FHA.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)	p.P16P(8)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGCTCCCCCAGGGGGGCTCT	0.721								Other BER factors																													p.P16P		.											.	PNKP-253	8	Substitution - coding silent(8)	lung(6)|urinary_tract(2)	c.T48C						.						10.0	13.0	12.0					19																	50370414		2073	4105	6178	SO:0001819	synonymous_variant	11284	exon2			TCCCCCAGGGGGG	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.48T>C	19.37:g.50370414A>G		20	2		107	15	NM_007254	0	0	0	0	0	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	CCDS12783.1																																																																																			.		0.721	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254	
MYH14	79784	hgsc.bcm.edu	37	19	50713814	50713814	+	Silent	SNP	G	G	T	rs181055215		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:50713814G>T	ENST00000596571.1	+	1	192	c.192G>T	c.(190-192)ggG>ggT	p.G64G	MYH14_ENST00000440075.2_Silent_p.G64G|MYH14_ENST00000598205.1_Silent_p.G64G|MYH14_ENST00000262269.8_Silent_p.G64G|MYH14_ENST00000376970.2_Silent_p.G64G|MYH14_ENST00000601313.1_Silent_p.G64G|MYH14_ENST00000425460.1_Silent_p.G64G			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	64					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGCTTCACGGGTTCGAGGCGG	0.766																																					p.G64G		.											.	MYH14-23	0			c.G192T						.	G	,,	2,3974		0,2,1986	7.0	11.0	9.0		192,192,192	-2.2	1.0	19		9	21,8149		0,21,4064	no	coding-synonymous,coding-synonymous,coding-synonymous	MYH14	NM_001077186.1,NM_001145809.1,NM_024729.3	,,	0,23,6050	TT,TG,GG		0.257,0.0503,0.1894	,,	64/2004,64/2037,64/1996	50713814	23,12123	1988	4085	6073	SO:0001819	synonymous_variant	79784	exon2			TCACGGGTTCGAG	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.192G>T	19.37:g.50713814G>T		2	0		86	52	NM_001077186	0	0	0	0	0	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	CCDS59411.1																																																																																			.		0.766	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729	
LILRA4	23547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	54849247	54849247	+	Silent	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:54849247C>T	ENST00000291759.4	-	4	671	c.615G>A	c.(613-615)gtG>gtA	p.V205V	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	205	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTTCCGACCACACGTATGGGG	0.557																																					p.V205V		.											.	LILRA4-91	0			c.G615A						.						81.0	70.0	73.0					19																	54849247		2203	4300	6503	SO:0001819	synonymous_variant	23547	exon4			CGACCACACGTAT	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.615G>A	19.37:g.54849247C>T		65	0		102	16	NM_012276	0	0	0	0	0	Q32MC4	Silent	SNP	ENST00000291759.4	37	CCDS12890.1																																																																																			.		0.557	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276	
LILRA2	11027	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	55098715	55098715	+	Missense_Mutation	SNP	C	C	T	rs149580797	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:55098715C>T	ENST00000251377.3	+	9	1487	c.1354C>T	c.(1354-1356)Cgc>Tgc	p.R452C	LILRA2_ENST00000391737.1_Missense_Mutation_p.R423C|LILRA2_ENST00000251376.3_Missense_Mutation_p.R435C|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|CTB-83J4.2_ENST00000596330.1_lincRNA|LILRA2_ENST00000391738.3_Missense_Mutation_p.R452C|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	452					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAATCTCATCCGCATGGGTGT	0.582													c|||	15	0.00299521	0.0106	0.0014	5008	,	,		20272	0.0		0.0	False		,,,				2504	0.0				p.R452C		.											.	LILRA2-91	0			c.C1354T						.	C	CYS/ARG,CYS/ARG	25,4381	31.7+/-61.6	0,25,2178	124.0	107.0	113.0		1354,1303	1.7	0.0	19	dbSNP_134	113	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	LILRA2	NM_001130917.1,NM_006866.2	180,180	0,27,6476	TT,TC,CC		0.0233,0.5674,0.2076	,	452/484,435/467	55098715	27,12979	2203	4300	6503	SO:0001583	missense	11027	exon8			CTCATCCGCATGG	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1354C>T	19.37:g.55098715C>T	ENSP00000251377:p.Arg452Cys	142	0		266	36	NM_001130917	0	0	0	0	0	O75020	Missense_Mutation	SNP	ENST00000251377.3	37	CCDS46179.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	C	13.34	2.208439	0.39003	0.005674	2.33E-4	ENSG00000239998	ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T	0.00574	6.5;6.5;6.58;6.47	2.74	1.68	0.24146	.	24.497700	0.00610	U	0.000408	T	0.01695	0.0054	M	0.93106	3.38	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.64144	0.922;0.912;0.742	T	0.30357	-0.9981	10	0.87932	D	0	.	5.3465	0.16012	0.0:0.829:0.0:0.171	.	423;452;435	A8MZH0;Q8N149;Q8N149-2	.;LIRA2_HUMAN;.	C	452;452;435;423	ENSP00000251377:R452C;ENSP00000375618:R452C;ENSP00000251376:R435C;ENSP00000375617:R423C	ENSP00000251376:R435C	R	+	1	0	LILRA2	59790527	0.000000	0.05858	0.002000	0.10522	0.024000	0.10985	-0.318000	0.08050	0.470000	0.27294	0.609000	0.83330	CGC	C|0.996;T|0.004		0.582	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2		
ZNF628	89887	hgsc.bcm.edu	37	19	55993260	55993260	+	Missense_Mutation	SNP	A	A	G	rs34864744	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:55993260A>G	ENST00000598519.1	+	3	1253	c.700A>G	c.(700-702)Acc>Gcc	p.T234A	ZNF628_ENST00000391718.2_Missense_Mutation_p.T230A			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	234	Pro-rich.			T -> A (in Ref. 2; AAH89449). {ECO:0000305}.	transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		cgccccgggtaccgcctccgc	0.766													N|||	3815	0.761781	0.9387	0.732	5008	,	,		4719	0.4395		0.837	False		,,,				2504	0.7986				p.T234A		.											.	ZNF628-22	0			c.A700G						.						3.0	4.0	4.0					19																	55993260		1771	3509	5280	SO:0001583	missense	89887	exon3			CCGGGTACCGCCT	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.700A>G	19.37:g.55993260A>G	ENSP00000469591:p.Thr234Ala	0	0		4	4	NM_033113	0	0	0	0	0	Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	CCDS33116.3	1594	0.7298534798534798	448	0.9105691056910569	272	0.7513812154696132	259	0.4527972027972028	615	0.8113456464379947	.	0.001	-2.964343	0.00049	.	.	ENSG00000197483	ENST00000391718	T	0.08193	3.12	3.0	-0.723	0.11181	.	.	.	.	.	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	0.05852	-1.0860	8	0.25106	T	0.35	0.0335	6.0751	0.19911	0.3452:0.3167:0.3381:0.0	rs34864744	230	Q5EBL2	ZN628_HUMAN	A	230	ENSP00000375598:T230A	ENSP00000375598:T230A	T	+	1	0	ZNF628	60685072	0.324000	0.24652	0.001000	0.08648	0.007000	0.05969	-0.265000	0.08644	-0.261000	0.09405	-2.335000	0.00248	ACC	A|0.270;G|0.730		0.766	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964	
ZNF784	147808	hgsc.bcm.edu	37	19	56133551	56133551	+	Missense_Mutation	SNP	C	C	T	rs200843026	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:56133551C>T	ENST00000325351.4	-	2	577	c.538G>A	c.(538-540)Gag>Aag	p.E180K	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	180					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		atcaccacctccgccctctcc	0.731													C|||	46	0.0091853	0.0	0.0058	5008	,	,		8698	0.001		0.0109	False		,,,				2504	0.0307				p.E180K		.											.	ZNF784-68	0			c.G538A						.						2.0	2.0	2.0					19																	56133551		1398	2919	4317	SO:0001583	missense	147808	exon2			CCACCTCCGCCCT	AK074859	CCDS12930.1	19q13.42	2013-01-08			ENSG00000179922	ENSG00000179922		"""Zinc fingers, C2H2-type"""	33111	protein-coding gene	gene with protein product							Standard	NM_203374		Approved	MGC75238	uc002qll.1	Q8NCA9	OTTHUMG00000180860	ENST00000325351.4:c.538G>A	19.37:g.56133551C>T	ENSP00000320096:p.Glu180Lys	0	0		26	17	NM_203374	0	0	0	0	0		Missense_Mutation	SNP	ENST00000325351.4	37	CCDS12930.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065757	0.36470	.	.	ENSG00000179922	ENST00000325351	T	0.09350	2.99	3.21	3.21	0.36854	.	0.000000	0.38164	N	0.001782	T	0.05456	0.0144	N	0.24115	0.695	0.80722	D	1	P	0.47409	0.895	B	0.34873	0.191	T	0.47824	-0.9087	10	0.20046	T	0.44	-19.2128	10.1999	0.43077	0.0:1.0:0.0:0.0	.	180	Q8NCA9	ZN784_HUMAN	K	180	ENSP00000320096:E180K	ENSP00000320096:E180K	E	-	1	0	ZNF784	60825363	0.023000	0.18921	0.904000	0.35570	0.344000	0.29017	0.548000	0.23314	2.113000	0.64589	0.462000	0.41574	GAG	.		0.731	ZNF784-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453355.2	NM_203374	
ZNF787	126208	hgsc.bcm.edu	37	19	56599438	56599440	+	In_Frame_Del	DEL	TCG	TCG	-	rs5828672|rs71696054	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	TCG	TCG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:56599438_56599440delTCG	ENST00000270459.3	-	3	1219_1221	c.1101_1103delCGA	c.(1099-1104)gacgag>gag	p.D367del		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GCCCGCGGCCTCGTCGTCGTCGT	0.778														4509	0.900359	0.9939	0.732	5008	,	,		3238	0.7252		0.9821	False		,,,				2504	0.9898				p.367_368del		.											.	ZNF787-69	0			c.1101_1103del						.																																			SO:0001651	inframe_deletion	126208	exon3			GCGGCCTCGTCGT	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.1101_1103delCGA	19.37:g.56599447_56599449delTCG	ENSP00000270459:p.Asp367del	0	0		11	11	NM_001002836	0	0	0	0	0	O00455	In_Frame_Del	DEL	ENST00000270459.3	37	CCDS42634.1																																																																																			.		0.778	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836	
PEG3	5178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	57335765	57335765	+	Missense_Mutation	SNP	C	C	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:57335765C>G	ENST00000326441.9	-	4	622	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	PEG3_ENST00000423103.2_Missense_Mutation_p.E87Q|ZIM2_ENST00000601070.1_5'UTR|ZIM2_ENST00000593931.1_5'Flank|ZIM2_ENST00000391708.3_5'UTR|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000221722.5_5'UTR|PEG3_ENST00000593695.1_5'UTR|PEG3_ENST00000594706.1_5'UTR|ZIM2_ENST00000593711.1_5'UTR|PEG3_ENST00000598410.1_5'UTR	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	87	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACCAAGAGCTCGATGATCTCC	0.537																																					p.E87Q		.											.	PEG3-164	0			c.G259C						.						98.0	95.0	96.0					19																	57335765		2203	4300	6503	SO:0001583	missense	5178	exon3			AGAGCTCGATGAT	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.259G>C	19.37:g.57335765C>G	ENSP00000326581:p.Glu87Gln	225	0		218	60	NM_001146184	0	0	0	0	0	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032577	0.75504	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.10288	2.89;2.89	4.18	4.18	0.49190	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.172757	0.27936	N	0.017250	T	0.36110	0.0955	M	0.88775	2.98	.	.	.	D;D	0.76494	0.999;0.999	D;D	0.67900	0.954;0.954	T	0.56601	-0.7952	9	0.87932	D	0	-14.8435	12.7356	0.57222	0.0:1.0:0.0:0.0	.	87;20	Q9GZU2;Q96Q96	PEG3_HUMAN;.	Q	87	ENSP00000326581:E87Q;ENSP00000403051:E87Q	ENSP00000292074:E87Q	E	-	1	0	ZIM2	62027577	0.990000	0.36364	0.935000	0.37517	0.975000	0.68041	3.502000	0.53332	2.282000	0.76494	0.650000	0.86243	GAG	.		0.537	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
ZNF814	730051	hgsc.bcm.edu	37	19	58385790	58385790	+	Missense_Mutation	SNP	G	G	T	rs111727691		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:58385790G>T	ENST00000435989.2	-	3	1202	c.968C>A	c.(967-969)cCt>cAt	p.P323H	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	323					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACATTCATAAGGTCTTTTCCC	0.358																																					p.P323H		.											.	.	0			c.C968A						.						15.0	12.0	13.0					19																	58385790		688	1563	2251	SO:0001583	missense	730051	exon3			TCATAAGGTCTTT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.968C>A	19.37:g.58385790G>T	ENSP00000410545:p.Pro323His	42	0		108	15	NM_001144989	0	0	0	0	0	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.139	0.784825	0.16189	.	.	ENSG00000204514	ENST00000435989	T	0.29397	1.57	2.27	1.18	0.20946	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57080	0.2029	M	0.90019	3.08	0.20764	N	0.999853	D	0.89917	1.0	D	0.67231	0.95	T	0.46247	-0.9205	9	0.66056	D	0.02	.	9.258	0.37595	0.0:0.0:0.7811:0.2189	.	323	B7Z6K7	ZN814_HUMAN	H	323	ENSP00000410545:P323H	ENSP00000410545:P323H	P	-	2	0	ZNF814	63077602	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-0.439000	0.06897	0.330000	0.23485	-1.407000	0.01130	CCT	G|0.500;T|0.500		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
ZNF814	730051	hgsc.bcm.edu	37	19	58385793	58385793	+	Missense_Mutation	SNP	C	C	T	rs113623532		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:58385793C>T	ENST00000435989.2	-	3	1199	c.965G>A	c.(964-966)aGa>aAa	p.R322K	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	322					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCATAAGGTCTTTTCCCAGT	0.358																																					p.R322K		.											.	.	0			c.G965A						.						15.0	12.0	13.0					19																	58385793		687	1562	2249	SO:0001583	missense	730051	exon3			TAAGGTCTTTTCC		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.965G>A	19.37:g.58385793C>T	ENSP00000410545:p.Arg322Lys	42	0		104	15	NM_001144989	0	0	0	0	0	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395361	0.01175	.	.	ENSG00000204514	ENST00000435989	T	0.12361	2.69	2.27	9.47E-4	0.14044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02225	-0.63	0.09310	N	0.999999	B	0.29301	0.241	B	0.28916	0.096	T	0.40534	-0.9558	9	0.02654	T	1	.	4.6969	0.12808	0.0:0.4166:0.0:0.5834	.	322	B7Z6K7	ZN814_HUMAN	K	322	ENSP00000410545:R322K	ENSP00000410545:R322K	R	-	2	0	ZNF814	63077605	0.000000	0.05858	0.024000	0.17045	0.009000	0.06853	-1.883000	0.01623	0.331000	0.23511	-1.381000	0.01174	AGA	C|0.500;T|0.500		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
PLEKHH2	130271	broad.mit.edu	37	2	43953487	43953487	+	Missense_Mutation	SNP	A	A	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:43953487A>C	ENST00000282406.4	+	17	2728	c.2618A>C	c.(2617-2619)tAt>tCt	p.Y873S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	873	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GATGAAGATTATGAAGCCAGT	0.393																																					p.Y873S		.											.	PLEKHH2-92	0			c.A2618C						.						111.0	104.0	106.0					2																	43953487		2203	4300	6503	SO:0001583	missense	130271	exon17			AAGATTATGAAGC	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2618A>C	2.37:g.43953487A>C	ENSP00000282406:p.Tyr873Ser	230	0		314	7	NM_172069	0	0	0	0	0	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.732458	0.69189	.	.	ENSG00000152527	ENST00000282406	T	0.73258	-0.73	5.57	5.57	0.84162	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.139468	0.50627	D	0.000103	T	0.80834	0.4699	L	0.58428	1.81	0.47905	D	0.999545	D;D	0.76494	0.966;0.999	P;D	0.68943	0.842;0.961	T	0.80582	-0.1318	10	0.42905	T	0.14	-17.9703	15.7475	0.77958	1.0:0.0:0.0:0.0	.	873;310	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	S	873	ENSP00000282406:Y873S	ENSP00000282406:Y873S	Y	+	2	0	PLEKHH2	43806991	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.355000	0.59424	2.102000	0.63906	0.528000	0.53228	TAT	.		0.393	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069	
PROKR1	10887	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	68873425	68873425	+	Missense_Mutation	SNP	A	A	G	rs147256235		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:68873425A>G	ENST00000303786.3	+	2	892	c.472A>G	c.(472-474)Atc>Gtc	p.I158V	PROKR1_ENST00000394342.2_Missense_Mutation_p.I158V			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	158					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTGCTGGCCATCGCCATTGA	0.597																																					p.I158V		.											.	PROKR1-523	0			c.A472G						.	A	VAL/ILE	0,4406		0,0,2203	71.0	66.0	68.0		472	5.2	1.0	2	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	missense	PROKR1	NM_138964.2	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	158/394	68873425	1,13005	2203	4300	6503	SO:0001583	missense	10887	exon1			CTGGCCATCGCCA	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.472A>G	2.37:g.68873425A>G	ENSP00000303775:p.Ile158Val	100	0		150	32	NM_138964	0	0	0	0	0	A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.122625	0.77436	0.0	1.16E-4	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.80566	-1.39;-1.39	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.092760	0.85682	D	0.000000	D	0.88833	0.6544	M	0.76838	2.35	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.89500	0.3763	10	0.56958	D	0.05	.	13.3807	0.60766	1.0:0.0:0.0:0.0	.	158	Q8TCW9	PKR1_HUMAN	V	158	ENSP00000303775:I158V;ENSP00000377874:I158V	ENSP00000303775:I158V	I	+	1	0	PROKR1	68726929	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.972000	0.93424	2.330000	0.79161	0.528000	0.53228	ATC	A|1.000;G|0.000		0.597	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2		
HK2	3099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	75115104	75115104	+	Missense_Mutation	SNP	G	G	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:75115104G>T	ENST00000290573.2	+	16	2894	c.2294G>T	c.(2293-2295)gGa>gTa	p.G765V	HK2_ENST00000409174.1_Missense_Mutation_p.G737V	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	765	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						ACCAAGCGTGGACTACTCTTC	0.483																																					p.G765V		.											.	HK2-252	0			c.G2294T						.						158.0	138.0	145.0					2																	75115104		2203	4300	6503	SO:0001583	missense	3099	exon16			AGCGTGGACTACT		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2294G>T	2.37:g.75115104G>T	ENSP00000290573:p.Gly765Val	188	0		275	39	NM_000189	0	0	0	0	0	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927308	0.92389	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96913	-4.17;-4.17	4.72	4.72	0.59763	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.98740	1.0716	10	0.87932	D	0	-32.4998	15.5668	0.76300	0.0:0.0:1.0:0.0	.	765	P52789	HXK2_HUMAN	V	765;765;737	ENSP00000290573:G765V;ENSP00000387140:G737V	ENSP00000290573:G765V	G	+	2	0	HK2	74968612	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.592000	0.98245	2.623000	0.88846	0.555000	0.69702	GGA	.		0.483	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189	
TGOLN2	10618	broad.mit.edu;bcgsc.ca	37	2	85553698	85553700	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:85553698_85553700delAAG	ENST00000409232.3	-	2	1216_1218	c.1155_1157delCTT	c.(1153-1158)ttcttt>ttt	p.385_386FF>F	TGOLN2_ENST00000377386.3_In_Frame_Del_p.385_386FF>F|TGOLN2_ENST00000444342.2_In_Frame_Del_p.385_386FF>F|TGOLN2_ENST00000398263.2_In_Frame_Del_p.327_328FF>F|TGOLN2_ENST00000282120.2_In_Frame_Del_p.229_230FF>F|TGOLN2_ENST00000409015.1_In_Frame_Del_p.385_386FF>F			O43493	TGON2_HUMAN	trans-golgi network protein 2	385				F -> S (in Ref. 5; CAE45926). {ECO:0000305}.		Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CAGATATGCAAAGAAGTGGCTGC	0.547																																					p.385_386del		.											.	TGOLN2-22	0			c.1155_1157del						.																																			SO:0001651	inframe_deletion	10618	exon2			TATGCAAAGAAGT	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.1155_1157delCTT	2.37:g.85553701_85553703delAAG	ENSP00000386443:p.Phe386del	168	0		292	42	NM_001206841	0	0	0	0	0	B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	In_Frame_Del	DEL	ENST00000409232.3	37	CCDS56126.1																																																																																			.		0.547	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464	
AFF3	3899	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	100167958	100167958	+	Missense_Mutation	SNP	C	C	T	rs150108936		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:100167958C>T	ENST00000409236.2	-	23	3771	c.3659G>A	c.(3658-3660)cGg>cAg	p.R1220Q	AFF3_ENST00000317233.4_Missense_Mutation_p.R1220Q|AFF3_ENST00000356421.2_Missense_Mutation_p.R1245Q|AFF3_ENST00000409579.1_Missense_Mutation_p.R1245Q			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1220					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGCGCTGTTCCGCAGCCAGTG	0.592																																					p.R1245Q		.											.	AFF3-230	0			c.G3734A						.	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	42.0	41.0	41.0		3734,3659	6.2	1.0	2	dbSNP_134	41	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AFF3	NM_001025108.1,NM_002285.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1245/1252,1220/1227	100167958	1,13005	2203	4300	6503	SO:0001583	missense	3899	exon24			CTGTTCCGCAGCC	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3659G>A	2.37:g.100167958C>T	ENSP00000387207:p.Arg1220Gln	49	0		90	26	NM_001025108	0	0	0	0	0	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	37	6.025587	0.97216	0.0	1.16E-4	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84151	0.5409	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	0.969;1.0	D;D	0.85130	0.975;0.997	D	0.83770	0.0219	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1220;1245	P51826;P51826-2	AFF3_HUMAN;.	Q	1220;1245;1245;1220	ENSP00000317421:R1220Q;ENSP00000348793:R1245Q;ENSP00000386834:R1245Q;ENSP00000387207:R1220Q	ENSP00000317421:R1220Q	R	-	2	0	AFF3	99534390	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.752000	0.85141	2.941000	0.99782	0.655000	0.94253	CGG	C|1.000;T|0.000		0.592	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	
POU3F3	5455	bcgsc.ca	37	2	105473180	105473180	+	Silent	SNP	C	C	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:105473180C>A	ENST00000361360.2	+	1	1212	c.1212C>A	c.(1210-1212)ggC>ggA	p.G404G	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	404					central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CGGCGCAGGGCCGCAAGCGCA	0.632																																					p.G404G		.											.	POU3F3-45	0			c.C1212A						.						41.0	41.0	41.0					2																	105473180		2203	4300	6503	SO:0001819	synonymous_variant	5455	exon1			GCAGGGCCGCAAG		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"""Homeoboxes / POU class"""	9216	protein-coding gene	gene with protein product		602480	"""POU domain class 3, transcription factor 3"""				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.1212C>A	2.37:g.105473180C>A		350	3		634	30	NM_006236	0	0	0	0	0	P78379|Q4ZG25	Silent	SNP	ENST00000361360.2	37	CCDS33265.1																																																																																			.		0.632	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2		
C2orf40	84417	hgsc.bcm.edu	37	2	106682235	106682235	+	Silent	SNP	C	C	G	rs4266035	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:106682235C>G	ENST00000238044.3	+	1	124	c.15C>G	c.(13-15)ccC>ccG	p.P5P	C2orf40_ENST00000409944.1_Intron|C2orf40_ENST00000489174.1_Intron	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	5					cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						CTGCCTCCCCCGCGCGGCCTG	0.751													C|||	1156	0.230831	0.18	0.1239	5008	,	,		11837	0.2391		0.2187	False		,,,				2504	0.3793				p.P5P		.											.	C2orf40-90	0			c.C15G						.						2.0	3.0	3.0					2																	106682235		1650	3370	5020	SO:0001819	synonymous_variant	84417	exon1			CTCCCCCGCGCGG	BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"""esophageal cancer related gene 4 protein"""	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.15C>G	2.37:g.106682235C>G		0	0		16	16	NM_032411	0	0	0	0	0	D3DVK2	Silent	SNP	ENST00000238044.3	37	CCDS2072.1																																																																																			C|0.795;G|0.205		0.751	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	NM_032411	
EN1	2019	broad.mit.edu	37	2	119600586	119600586	+	Silent	SNP	C	C	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:119600586C>A	ENST00000295206.6	-	2	1617	c.1107G>T	c.(1105-1107)gcG>gcT	p.A369A	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	369					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						TGAGGTGCAGCGCCAGGCCGT	0.627																																					p.A369A		.											.	EN1-154	0			c.G1107T						.						74.0	66.0	69.0					2																	119600586		2203	4300	6503	SO:0001819	synonymous_variant	2019	exon2			GTGCAGCGCCAGG	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.1107G>T	2.37:g.119600586C>A		105	2		207	9	NM_001426	0	0	0	0	0	Q4ZG44	Silent	SNP	ENST00000295206.6	37	CCDS2123.1																																																																																			.		0.627	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3		
TMEM194B	100131211	hgsc.bcm.edu	37	2	191399378	191399378	+	Missense_Mutation	SNP	C	C	G	rs13412879	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:191399378C>G	ENST00000409150.3	-	1	70	c.4G>C	c.(4-6)Ggg>Cgg	p.G2R	AC093388.3_ENST00000457407.1_RNA|TMEM194B_ENST00000492292.1_5'Flank	NM_001142645.1	NP_001136117.1	A6NFY4	T194B_HUMAN	transmembrane protein 194B	2						integral component of membrane (GO:0016021)											TGGCGCGGCCCCATTTCGTTA	0.736													G|||	715	0.142772	0.1271	0.0994	5008	,	,		11081	0.1389		0.1998	False		,,,				2504	0.1401				p.G2R		.											.	.	0			c.G4C						.						1.0	3.0	2.0					2																	191399378		437	1202	1639	SO:0001583	missense	100131211	exon1			GCGGCCCCATTTC		CCDS46476.1	2q32.2	2008-06-10			ENSG00000189362	ENSG00000189362			33700	protein-coding gene	gene with protein product							Standard	NM_001142645		Approved		uc010zgf.2	A6NFY4	OTTHUMG00000154454	ENST00000409150.3:c.4G>C	2.37:g.191399378C>G	ENSP00000386292:p.Gly2Arg	0	0		6	6	NM_001142645	0	0	0	0	0	B4DYG6	Missense_Mutation	SNP	ENST00000409150.3	37	CCDS46476.1	355	0.16254578754578755	65	0.13211382113821138	50	0.13812154696132597	92	0.16083916083916083	148	0.19525065963060687	G	0.006	-2.115233	0.00349	.	.	ENSG00000189362	ENST00000409150	T	0.41400	1.0	3.19	0.247	0.15521	.	1.634660	0.05384	N	0.537665	T	0.00012	0.0000	N	0.08118	0	0.51767	P	7.00000000000145E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.11036	-1.0604	9	0.06099	T	0.92	.	3.8823	0.09083	0.1049:0.1644:0.5731:0.1577	rs13412879	2	A6NFY4	T194B_HUMAN	R	2	ENSP00000386292:G2R	ENSP00000340087:G2R	G	-	1	0	TMEM194B	191107623	0.000000	0.05858	0.416000	0.26546	0.005000	0.04900	-1.034000	0.03567	-0.400000	0.07656	-3.777000	0.00021	GGG	C|0.836;G|0.164		0.736	TMEM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335299.1	XM_001723498	
IKZF2	22807	broad.mit.edu	37	2	213872285	213872285	+	Silent	SNP	G	G	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:213872285G>T	ENST00000434687.1	-	9	1689	c.1380C>A	c.(1378-1380)gtC>gtA	p.V460V	IKZF2_ENST00000421754.2_Silent_p.V386V|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Silent_p.V388V|IKZF2_ENST00000457361.1_Silent_p.V460V|IKZF2_ENST00000342002.2_Silent_p.V466V|IKZF2_ENST00000374319.4_Silent_p.V434V|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000374327.4_Silent_p.V315V			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	460					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CTCCATTGAAGACCTTGTAGA	0.478																																					p.V460V		.											.	IKZF2-226	0			c.C1380A						.						181.0	177.0	178.0					2																	213872285		2203	4300	6503	SO:0001819	synonymous_variant	22807	exon8			ATTGAAGACCTTG	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1380C>A	2.37:g.213872285G>T		370	0		383	9	NM_016260	0	0	0	0	0	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Silent	SNP	ENST00000434687.1	37	CCDS2395.1																																																																																			.		0.478	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260	
DNPEP	23549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	220250725	220250725	+	Missense_Mutation	SNP	G	G	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:220250725G>C	ENST00000273075.4	-	6	775	c.555C>G	c.(553-555)atC>atG	p.I185M	DNPEP_ENST00000523282.1_Missense_Mutation_p.I193M|DNPEP_ENST00000373972.1_Missense_Mutation_p.I110M|AC053503.4_ENST00000420563.1_RNA	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	175					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTTCTCGTTGATATTTCGCT	0.582																																					p.I185M		.											.	DNPEP-90	0			c.C555G						.						87.0	97.0	94.0					2																	220250725		2083	4224	6307	SO:0001583	missense	23549	exon6			CTCGTTGATATTT		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.555C>G	2.37:g.220250725G>C	ENSP00000273075:p.Ile185Met	130	0		260	57	NM_012100	0	0	0	0	0	Q9BW44|Q9NUV5	Missense_Mutation	SNP	ENST00000273075.4	37	CCDS42823.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365635	0.41902	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000373972;ENST00000523282;ENST00000535056;ENST00000457935;ENST00000429013;ENST00000521459;ENST00000322176;ENST00000434339;ENST00000430206	.	.	.	4.87	3.97	0.46021	Peptidase M18, domain 2 (1);	0.497523	0.21802	N	0.068916	T	0.67505	0.2900	M	0.69823	2.125	0.47819	D	0.999522	B;B;B;B;B	0.22746	0.03;0.074;0.03;0.004;0.03	B;B;B;B;B	0.27500	0.051;0.051;0.08;0.038;0.031	T	0.66571	-0.5890	9	0.52906	T	0.07	-9.5064	14.4917	0.67654	0.0:0.2783:0.7217:0.0	.	193;185;193;175;185	E7ETB3;B7Z822;B7Z7F0;Q9ULA0;Q53SB6	.;.;.;DNPEP_HUMAN;.	M	185;185;110;193;78;193;171;185;185;110;110	.	ENSP00000273075:I185M	I	-	3	3	DNPEP	219958969	1.000000	0.71417	0.964000	0.40570	0.814000	0.46013	1.802000	0.38853	1.007000	0.39238	0.561000	0.74099	ATC	.		0.582	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100	
ASB18	401036	hgsc.bcm.edu	37	2	237123104	237123104	+	Silent	SNP	G	G	C	rs7588748	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:237123104G>C	ENST00000409749.3	-	4	1001	c.1002C>G	c.(1000-1002)ctC>ctG	p.L334L	ASB18_ENST00000330842.6_Silent_p.L305L|AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	334					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		ATGCGGTCTGGAGCACGCGGC	0.756													C|||	1421	0.283746	0.7451	0.1369	5008	,	,		6279	0.005		0.1551	False		,,,				2504	0.184				p.L334L		.											.	ASB18-227	0			c.C1002G						.	C		1787,1791		461,865,463	3.0	4.0	4.0		1002	3.0	1.0	2	dbSNP_116	4	881,6987		75,731,3128	no	coding-synonymous	ASB18	NM_212556.2		536,1596,3591	CC,CG,GG		11.1973,49.9441,23.3095		334/467	237123104	2668,8778	1789	3934	5723	SO:0001819	synonymous_variant	401036	exon4			GGTCTGGAGCACG	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.1002C>G	2.37:g.237123104G>C		3	0		39	17	NM_212556	0	0	0	0	0	B6ZDL7	Silent	SNP	ENST00000409749.3	37	CCDS46548.1																																																																																			G|0.754;C|0.246		0.756	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556	
PANK2	80025	hgsc.bcm.edu	37	20	3870124	3870124	+	Missense_Mutation	SNP	G	G	C	rs3737084	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr20:3870124G>C	ENST00000316562.4	+	1	383	c.377G>C	c.(376-378)gGg>gCg	p.G126A	PANK2_ENST00000497424.1_Intron|PANK2_ENST00000610179.1_Missense_Mutation_p.G3A|RP11-119B16.2_ENST00000451507.1_RNA	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	126			G -> A (in dbSNP:rs3737084). {ECO:0000269|PubMed:11479594, ECO:0000269|PubMed:12554685, ECO:0000269|Ref.3}.		aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGGATGGGAGGGGGCCGGCTC	0.766													C|||	4403	0.879193	0.9939	0.9323	5008	,	,		9294	0.7946		0.8757	False		,,,				2504	0.7771				p.G126A		.											.	PANK2-115	0			c.G377C						.		,ALA/GLY	3009,53		1478,53,0	2.0	3.0	3.0		,377	4.7	1.0	20	dbSNP_107	3	6120,564		2797,526,19	no	intron,missense	PANK2	NM_024960.4,NM_153638.2	,60	4275,579,19	CC,CG,GG		8.4381,1.7309,6.3308	,benign	,126/571	3870124	9129,617	1531	3342	4873	SO:0001583	missense	80025	exon1			TGGGAGGGGGCCG	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.377G>C	20.37:g.3870124G>C	ENSP00000313377:p.Gly126Ala	0	0		6	6	NM_153638	0	0	0	0	0	B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	ENST00000316562.4	37	CCDS13071.2	1920	0.8791208791208791	489	0.9939024390243902	334	0.9226519337016574	438	0.7657342657342657	659	0.8693931398416886	C	8.681	0.905209	0.17760	0.982691	0.915619	ENSG00000125779	ENST00000316562	D	0.96265	-3.96	4.73	4.73	0.59995	.	0.504726	0.16798	N	0.199120	T	0.00012	0.0000	N	0.08118	0	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.41574	-0.9501	9	0.02654	T	1	.	11.198	0.48724	0.0:0.8144:0.1856:0.0	rs3737084	126	Q9BZ23	PANK2_HUMAN	A	126	ENSP00000313377:G126A	ENSP00000313377:G126A	G	+	2	0	PANK2	3818124	0.994000	0.37717	0.990000	0.47175	0.991000	0.79684	1.019000	0.30014	1.369000	0.46134	-0.164000	0.13417	GGG	G|0.122;C|0.878		0.766	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960	
FRG1B	284802	bcgsc.ca	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363																																					.		.											.	FRG1B-22	0			.						.																																			SO:0001583	missense	284802	.			GCAAAAAGTAAAA			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.301A>G	20.37:g.29628299A>G	ENSP00000278882:p.Ser101Gly	505	10		414	25	.	0	0	0	0	0	C4AME5	RNA	SNP	ENST00000278882.3	37		.	.	.	.	.	.	.	.	.	.	a	16.61	3.170807	0.57584	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50001	0.76	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	D	0.000001	T	0.38719	0.1051	.	.	.	0.42178	D	0.991671	B;P	0.36483	0.147;0.555	B;B	0.37731	0.138;0.257	T	0.38178	-0.9673	9	0.62326	D	0.03	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	G	101;106;101	ENSP00000408863:S106G	ENSP00000278882:S101G	S	+	1	0	FRG1B	28241960	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.085000	0.89518	1.208000	0.43306	0.347000	0.21830	AGT	.		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
PROCR	10544	broad.mit.edu	37	20	33762727	33762727	+	Missense_Mutation	SNP	G	G	T	rs200377875		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr20:33762727G>T	ENST00000216968.4	+	2	375	c.293G>T	c.(292-294)cGc>cTc	p.R98L	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	98					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.R98L(2)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GGCCTCGTGCGCCTGGTGCAC	0.726																																					p.R98L		.											.	PROCR-226	2	Substitution - Missense(2)	prostate(1)|kidney(1)	c.G293T						.						20.0	17.0	18.0					20																	33762727		2194	4296	6490	SO:0001583	missense	10544	exon2			TCGTGCGCCTGGT	L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"""CD molecules"""	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.293G>T	20.37:g.33762727G>T	ENSP00000216968:p.Arg98Leu	20	2		65	9	NM_006404	0	0	0	0	0	B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	ENST00000216968.4	37	CCDS13248.1	.	.	.	.	.	.	.	.	.	.	g	26.5	4.741327	0.89573	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	D	0.82984	-1.67	5.22	-10.4	0.00318	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.402480	0.04770	N	0.427767	T	0.71837	0.3387	L	0.51422	1.61	0.09310	N	1	B	0.30179	0.271	B	0.28385	0.089	T	0.61227	-0.7105	10	0.56958	D	0.05	-6.7275	4.9914	0.14216	0.5133:0.0:0.1891:0.2976	.	98	Q9UNN8	EPCR_HUMAN	L	98	ENSP00000216968:R98L	ENSP00000216968:R98L	R	+	2	0	PROCR	33226388	0.000000	0.05858	0.002000	0.10522	0.952000	0.60782	-3.074000	0.00617	-2.082000	0.00868	0.556000	0.70494	CGC	.		0.726	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078843.3		
ACTR5	79913	hgsc.bcm.edu	37	20	37377139	37377139	+	Silent	SNP	C	C	T	rs2254105	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	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		21	12	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	
TOP1	7150	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	39746844	39746844	+	Missense_Mutation	SNP	A	A	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr20:39746844A>T	ENST00000361337.2	+	18	2108	c.1858A>T	c.(1858-1860)Aac>Tac	p.N620Y	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	620					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	CCTTTCTTATAACCGTGCCAA	0.423			T	NUP98	AML*																																p.N620Y		.		Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	.	TOP1-1148	0			c.A1858T						.						95.0	78.0	84.0					20																	39746844		2203	4300	6503	SO:0001583	missense	7150	exon18			TCTTATAACCGTG		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.1858A>T	20.37:g.39746844A>T	ENSP00000354522:p.Asn620Tyr	230	0		351	47	NM_003286	0	0	0	0	0	A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.025497	0.93518	.	.	ENSG00000198900	ENST00000361337	T	0.47869	0.83	5.96	5.96	0.96718	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);	0.000000	0.85682	D	0.000000	T	0.79930	0.4531	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86823	0.2006	10	0.87932	D	0	-32.1899	16.4447	0.83919	1.0:0.0:0.0:0.0	.	620	P11387	TOP1_HUMAN	Y	620	ENSP00000354522:N620Y	ENSP00000354522:N620Y	N	+	1	0	TOP1	39180258	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.284000	0.76573	0.528000	0.53228	AAC	.		0.423	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2		
PLCG1	5335	ucsc.edu;bcgsc.ca	37	20	39794128	39794128	+	Missense_Mutation	SNP	G	G	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr20:39794128G>T	ENST00000373271.1	+	15	1953	c.1548G>T	c.(1546-1548)aaG>aaT	p.K516N	PLCG1_ENST00000244007.3_Missense_Mutation_p.K516N|PLCG1_ENST00000373272.2_Missense_Mutation_p.K516N	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	516	PH 2; first part. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CCAGCAGCAAGATCTACTACT	0.587																																					p.K516N		.											.	PLCG1-911	0			c.G1548T						.						103.0	85.0	91.0					20																	39794128		2203	4300	6503	SO:0001583	missense	5335	exon15			CAGCAAGATCTAC	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1548G>T	20.37:g.39794128G>T	ENSP00000362368:p.Lys516Asn	152	4		218	44	NM_182811	0	0	0	0	0	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.884851	0.72410	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.13657	2.57;2.57;2.57	5.66	2.21	0.28008	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.30448	0.0765	M	0.67953	2.075	0.58432	D	0.999998	D;D;D	0.67145	0.996;0.969;0.994	D;P;P	0.66602	0.945;0.677;0.882	T	0.04153	-1.0973	10	0.62326	D	0.03	.	11.551	0.50721	0.2784:0.0:0.7216:0.0	.	516;516;516	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	N	516	ENSP00000244007:K516N;ENSP00000362368:K516N;ENSP00000362369:K516N	ENSP00000244007:K516N	K	+	3	2	PLCG1	39227542	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.446000	0.44908	0.759000	0.33084	0.655000	0.94253	AAG	.		0.587	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	
RBPJL	11317	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	43945172	43945172	+	Missense_Mutation	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr20:43945172C>T	ENST00000343694.3	+	11	1304	c.1232C>T	c.(1231-1233)gCg>gTg	p.A411V	RBPJL_ENST00000372743.1_Missense_Mutation_p.A411V|RBPJL_ENST00000372741.3_Missense_Mutation_p.A411V|RBPJL_ENST00000464504.1_3'UTR	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	411	IPT/TIG.				positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				AACTTCCACGCGGGGCTCAAG	0.672																																					p.A411V		.											.	RBPJL-227	0			c.C1232T						.						37.0	38.0	38.0					20																	43945172		1966	3749	5715	SO:0001583	missense	11317	exon11			TCCACGCGGGGCT	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1232C>T	20.37:g.43945172C>T	ENSP00000341243:p.Ala411Val	193	0		397	25	NM_014276	0	0	0	0	0	O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953889	0.92660	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	T;T;T	0.18657	2.2;2.2;2.2	4.55	4.55	0.56014	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.084008	0.48286	D	0.000186	T	0.30885	0.0779	L	0.50333	1.59	0.47308	D	0.999384	D;D	0.67145	0.996;0.992	P;P	0.50490	0.642;0.491	T	0.08432	-1.0722	10	0.87932	D	0	-29.9754	16.8816	0.86064	0.0:1.0:0.0:0.0	.	411;411	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	V	411	ENSP00000361828:A411V;ENSP00000361826:A411V;ENSP00000341243:A411V	ENSP00000341243:A411V	A	+	2	0	RBPJL	43378586	1.000000	0.71417	0.316000	0.25252	0.988000	0.76386	5.819000	0.69243	2.515000	0.84797	0.555000	0.69702	GCG	.		0.672	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276	
ZSWIM3	140831	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	44505469	44505472	+	Frame_Shift_Del	DEL	TATT	TATT	-			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	TATT	TATT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr20:44505469_44505472delTATT	ENST00000255152.2	+	2	481_484	c.272_275delTATT	c.(271-276)ctatttfs	p.LF91fs	ZSWIM3_ENST00000454862.2_Frame_Shift_Del_p.LF85fs	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	91							zinc ion binding (GO:0008270)	p.L91Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CTAGATAGACTATTTATCAGTGAA	0.475																																					p.91_92del		.											.	ZSWIM3-92	1	Substitution - Missense(1)	ovary(1)	c.272_275del						.																																			SO:0001589	frameshift_variant	140831	exon2			ATAGACTATTTAT	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.272_275delTATT	20.37:g.44505469_44505472delTATT	ENSP00000255152:p.Leu91fs	117	0		194	40	NM_080752	0	0	0	0	0	Q9BR13	Frame_Shift_Del	DEL	ENST00000255152.2	37	CCDS13381.1																																																																																			.		0.475	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752	
TMEM189-UBE2V1	387522	hgsc.bcm.edu	37	20	48770159	48770159	+	Missense_Mutation	SNP	T	T	C	rs232733		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr20:48770159T>C	ENST00000341698.2	-	1	15	c.16A>G	c.(16-18)Aac>Gac	p.N6D	TMEM189_ENST00000371650.5_Missense_Mutation_p.N6D|TMEM189_ENST00000557021.1_Missense_Mutation_p.N6D|TMEM189_ENST00000371652.4_Missense_Mutation_p.N6D	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			CCCGGCCAGTTCTCGGCGCCC	0.766													C|||	5008	1.0	1.0	1.0	5008	,	,		6103	1.0		1.0	False		,,,				2504	1.0				p.N6D		.											.	TMEM189-22	0			c.A16G						.						2.0	2.0	2.0					20																	48770159		1101	2248	3349	SO:0001583	missense	387521	exon1			GCCAGTTCTCGGC	U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.16A>G	20.37:g.48770159T>C	ENSP00000344166:p.Asn6Asp	0	0		5	5	NM_199129	0	0	0	0	0		Missense_Mutation	SNP	ENST00000341698.2	37	CCDS13424.1	2182	0.9990842490842491	492	1.0	360	0.994475138121547	572	1.0	758	1.0	C	0.054	-1.242740	0.01481	.	.	ENSG00000124208;ENSG00000240849;ENSG00000240849;ENSG00000240849	ENST00000341698;ENST00000557021;ENST00000371650;ENST00000371652	T;T;T;T	0.46819	0.86;0.86;1.11;1.11	3.81	0.707	0.18139	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40757	-0.9546	8	0.02654	T	1	.	3.4688	0.07559	0.1731:0.5239:0.0:0.303	rs232733;rs674252;rs56654084	6;6;6	Q5TGE1;A5PLL7;G3V2F7	.;TM189_HUMAN;.	D	6	ENSP00000344166:N6D;ENSP00000450635:N6D;ENSP00000360713:N6D;ENSP00000360715:N6D	ENSP00000360713:N6D	N	-	1	0	TMEM189-UBE2V1;TMEM189	48203566	1.000000	0.71417	0.503000	0.27626	0.073000	0.16967	0.497000	0.22514	-0.274000	0.09232	-2.268000	0.00277	AAC	C|0.999;T|0.001		0.766	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5		
OGFR	11054	hgsc.bcm.edu	37	20	61444569	61444569	+	Silent	SNP	A	A	G	rs3204348		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr20:61444569A>G	ENST00000290291.6	+	7	1627	c.1602A>G	c.(1600-1602)ccA>ccG	p.P534P	OGFR_ENST00000370461.1_Silent_p.P482P	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	534	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				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)					GGGACGAGCCAGCCGAGAGCC	0.721																																					p.P534P		.											.	OGFR-68	0			c.A1602G						.						11.0	17.0	15.0					20																	61444569		2124	4201	6325	SO:0001819	synonymous_variant	11054	exon7			CGAGCCAGCCGAG	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.1602A>G	20.37:g.61444569A>G		19	0		94	9	NM_007346	0	0	0	0	0	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	ENST00000290291.6	37	CCDS13504.1																																																																																			A|0.979;G|0.021		0.721	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1		
OGFR	11054	hgsc.bcm.edu	37	20	61444633	61444633	+	Missense_Mutation	SNP	G	G	A	rs75570150		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr20:61444633G>A	ENST00000290291.6	+	7	1691	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	OGFR_ENST00000370461.1_Missense_Mutation_p.E504K	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	556	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				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)	p.E556K(1)		endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CGAGCCAGCCGAGAGCCCATC	0.756																																					p.E556K		.											.	OGFR-68	1	Substitution - Missense(1)	skin(1)	c.G1666A						.						6.0	11.0	9.0					20																	61444633		1936	3778	5714	SO:0001583	missense	11054	exon7			CCAGCCGAGAGCC	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.1666G>A	20.37:g.61444633G>A	ENSP00000290291:p.Glu556Lys	1	0		50	11	NM_007346	0	0	0	0	0	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	A	2.693	-0.272793	0.05716	.	.	ENSG00000060491	ENST00000290291;ENST00000357163;ENST00000370469;ENST00000370461	T;T	0.52983	0.64;0.64	0.773	-1.55	0.08558	.	.	.	.	.	T	0.25195	0.0612	N	0.14661	0.345	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.04013	0.0;0.001;0.0	T	0.12785	-1.0534	9	0.34782	T	0.22	.	5.1465	0.14987	0.4456:0.0:0.5544:0.0	.	556;539;556	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	K	556;536;391;504	ENSP00000290291:E556K;ENSP00000359491:E504K	ENSP00000290291:E556K	E	+	1	0	OGFR	60915078	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.269000	0.00532	-0.808000	0.04387	-1.125000	0.01998	GAG	.		0.756	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1		
OGFR	11054	hgsc.bcm.edu	37	20	61444637	61444637	+	Missense_Mutation	SNP	G	G	C	rs78981100		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr20:61444637G>C	ENST00000290291.6	+	7	1695	c.1670G>C	c.(1669-1671)aGc>aCc	p.S557T	OGFR_ENST00000370461.1_Missense_Mutation_p.S505T	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	557	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				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)	p.S557T(3)		endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CCAGCCGAGAGCCCATCGGAG	0.746																																					p.S557T		.											.	OGFR-68	3	Substitution - Missense(3)	upper_aerodigestive_tract(1)|prostate(1)|skin(1)	c.G1670C						.						5.0	10.0	8.0					20																	61444637		1884	3696	5580	SO:0001583	missense	11054	exon7			CCGAGAGCCCATC	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.1670G>C	20.37:g.61444637G>C	ENSP00000290291:p.Ser557Thr	2	0		49	11	NM_007346	0	0	0	0	0	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	G	7.631	0.678796	0.14841	.	.	ENSG00000060491	ENST00000290291;ENST00000357163;ENST00000370469;ENST00000370461	T;T	0.40225	1.04;1.04	0.773	0.773	0.18516	.	.	.	.	.	T	0.20373	0.0490	N	0.24115	0.695	0.09310	N	1	P;B;P	0.45594	0.862;0.386;0.862	B;B;B	0.38655	0.278;0.099;0.278	T	0.08868	-1.0701	9	0.09338	T	0.73	3.6159	4.5226	0.11966	0.2481:0.0:0.7519:0.0	.	557;540;557	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	T	557;537;392;505	ENSP00000290291:S557T;ENSP00000359491:S505T	ENSP00000290291:S557T	S	+	2	0	OGFR	60915082	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-1.934000	0.01552	0.687000	0.31509	0.185000	0.17295	AGC	.		0.746	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1		
RBM11	54033	broad.mit.edu	37	21	15592023	15592023	+	Missense_Mutation	SNP	C	C	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr21:15592023C>A	ENST00000400577.3	+	2	245	c.236C>A	c.(235-237)cCa>cAa	p.P79Q	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	79	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TATGGAAGACCAATTAACGTG	0.388																																					p.P79Q		.											.	.	0			c.C236A						.						103.0	93.0	96.0					21																	15592023		1568	3582	5150	SO:0001583	missense	54033	exon2			GAAGACCAATTAA	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.236C>A	21.37:g.15592023C>A	ENSP00000383421:p.Pro79Gln	208	0		194	6	NM_144770	0	0	0	0	0	Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.897005	0.72639	.	.	ENSG00000185272	ENST00000400577	T	0.16196	2.36	5.29	5.29	0.74685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000013	T	0.22513	0.0543	L	0.28344	0.845	0.50813	D	0.999899	P	0.41420	0.749	P	0.48189	0.57	T	0.01182	-1.1426	10	0.59425	D	0.04	-12.4034	18.9174	0.92512	0.0:1.0:0.0:0.0	.	79	P57052	RBM11_HUMAN	Q	79	ENSP00000383421:P79Q	ENSP00000383421:P79Q	P	+	2	0	RBM11	14513894	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.310000	0.59141	2.661000	0.90470	0.655000	0.94253	CCA	.		0.388	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770	
SEPT5	5413	hgsc.bcm.edu	37	22	19706305	19706305	+	Intron	SNP	G	G	T	rs187090154	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr22:19706305G>T	ENST00000455784.2	+	3	179				SEPT5_ENST00000383045.3_Silent_p.L15L|SEPT5_ENST00000490204.1_3'UTR|SEPT5_ENST00000406395.1_Intron|SEPT5_ENST00000438754.2_Silent_p.L15L	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5						cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TGGAGCAGCTGCTGTCGCCGC	0.761													G|||	22	0.00439297	0.0015	0.013	5008	,	,		9782	0.0		0.0109	False		,,,				2504	0.0				p.L15L		.											.	SEPT5-636	0			c.G45T						.	G	,	0,1426		0,0,713	3.0	2.0	3.0		45,	3.4	1.0	22		3	12,3326		0,12,1657	no	coding-synonymous,intron	SEPT5	NM_001009939.2,NM_002688.5	,	0,12,2370	TT,TG,GG		0.3595,0.0,0.2519	,	15/347,	19706305	12,4752	713	1669	2382	SO:0001627	intron_variant	5413	exon1			GCAGCTGCTGTCG	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.55-820G>T	22.37:g.19706305G>T		0	0		23	7	NM_001009939	0	0	0	0	0	O15251|Q96MY5	Silent	SNP	ENST00000455784.2	37	CCDS13764.1																																																																																			G|0.991;T|0.009		0.761	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688	
PI4KA	5297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	21150535	21150535	+	Missense_Mutation	SNP	C	C	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr22:21150535C>G	ENST00000572273.1	-	18	2232	c.2002G>C	c.(2002-2004)Gtg>Ctg	p.V668L	PI4KA_ENST00000466162.1_5'Flank|PI4KA_ENST00000255882.6_Missense_Mutation_p.V726L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	668					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGCTCATCCACCAGGTGCTCG	0.572																																					p.V726L	GBM(136;1332 1831 3115 23601 50806)	.											.	PI4KA-454	0			c.G2176C						.						94.0	66.0	75.0					22																	21150535		2203	4300	6503	SO:0001583	missense	5297	exon18			CATCCACCAGGTG	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2002G>C	22.37:g.21150535C>G	ENSP00000458238:p.Val668Leu	192	0		229	64	NM_058004	0	0	0	0	0	Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	C	12.19	1.862855	0.32884	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.62	4.62	0.57501	.	0.068760	0.64402	D	0.000016	T	0.22282	0.0537	N	0.01668	-0.77	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16837	-1.0389	9	0.11485	T	0.65	-25.6881	11.1783	0.48612	0.0:0.9157:0.0:0.0843	.	668	P42356	PI4KA_HUMAN	L	668	.	ENSP00000255882:V668L	V	-	1	0	PI4KA	19480535	1.000000	0.71417	0.992000	0.48379	0.904000	0.53231	5.883000	0.69721	2.402000	0.81655	0.591000	0.81541	GTG	.		0.572	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	
PLA2G3	50487	bcgsc.ca	37	22	31535872	31535872	+	Missense_Mutation	SNP	G	G	C	rs2074735	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr22:31535872G>C	ENST00000215885.3	-	1	721	c.469C>G	c.(469-471)Ctg>Gtg	p.L157V		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	157	Phospholipase A2-like.		L -> V (in dbSNP:rs2074735).		acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CCACACCACAGTGTGCCAGGC	0.627													G|||	838	0.167332	0.0053	0.1239	5008	,	,		16719	0.38		0.0805	False		,,,				2504	0.2873				p.L157V		.											.	PLA2G3-226	0			c.C469G						.	G	VAL/LEU	104,4302	82.4+/-120.9	1,102,2100	100.0	88.0	92.0		469	4.2	1.0	22	dbSNP_96	92	628,7972	162.6+/-215.3	21,586,3693	yes	missense	PLA2G3	NM_015715.3	32	22,688,5793	CC,CG,GG		7.3023,2.3604,5.6282	probably-damaging	157/510	31535872	732,12274	2203	4300	6503	SO:0001583	missense	50487	exon1			ACCACAGTGTGCC	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.469C>G	22.37:g.31535872G>C	ENSP00000215885:p.Leu157Val	71	0		78	5	NM_015715	0	0	0	0	0	O95768	Missense_Mutation	SNP	ENST00000215885.3	37	CCDS13889.1	315	0.14423076923076922	2	0.0040650406504065045	39	0.10773480662983426	206	0.36013986013986016	68	0.08970976253298153	G	22.1	4.247613	0.80024	0.023604	0.073023	ENSG00000100078	ENST00000215885	T	0.30714	1.52	5.17	4.16	0.48862	Phospholipase A2 (3);	0.000000	0.64402	D	0.000001	T	0.00012	0.0000	M	0.84846	2.72	0.20926	P	0.99982135	D	0.76494	0.999	D	0.74674	0.984	T	0.24693	-1.0153	9	0.54805	T	0.06	2.8557	10.8817	0.46942	0.0889:0.0:0.9111:0.0	rs2074735;rs2074735	157	Q9NZ20	PA2G3_HUMAN	V	157	ENSP00000215885:L157V	ENSP00000215885:L157V	L	-	1	2	PLA2G3	29865872	0.998000	0.40836	0.959000	0.39883	0.972000	0.66771	2.777000	0.47717	1.184000	0.42957	0.591000	0.81541	CTG	G|0.733;C|0.267		0.627	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715	
PACSIN2	11252	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	43289603	43289603	+	Missense_Mutation	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr22:43289603C>T	ENST00000263246.3	-	3	278	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	PACSIN2_ENST00000402229.1_Missense_Mutation_p.R26Q|PACSIN2_ENST00000407585.1_Missense_Mutation_p.R26Q|PACSIN2_ENST00000403744.3_Missense_Mutation_p.R26Q|PACSIN2_ENST00000337959.4_Missense_Mutation_p.R26Q	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	26	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CTTCACAGTCCGCTTGTAGTT	0.632																																					p.R26Q		.											.	PACSIN2-68	0			c.G77A						.						51.0	58.0	56.0					22																	43289603		2173	4295	6468	SO:0001583	missense	11252	exon3			ACAGTCCGCTTGT	AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.77G>A	22.37:g.43289603C>T	ENSP00000263246:p.Arg26Gln	132	0		191	32	NM_007229	0	0	0	0	0	O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Missense_Mutation	SNP	ENST00000263246.3	37	CCDS43023.1	.	.	.	.	.	.	.	.	.	.	C	32	5.131341	0.94473	.	.	ENSG00000100266	ENST00000263246;ENST00000337959;ENST00000407585;ENST00000403744;ENST00000402229;ENST00000453643;ENST00000418133;ENST00000422336;ENST00000453079	T;T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28	4.51	4.51	0.55191	Fps/Fes/Fer/CIP4 homology (3);	0.184730	0.47852	D	0.000204	T	0.42743	0.1216	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68353	0.927;0.957	T	0.32161	-0.9917	10	0.14252	T	0.57	-2.2919	18.5461	0.91047	0.0:1.0:0.0:0.0	.	26;26	Q6FIA3;Q9UNF0	.;PACN2_HUMAN	Q	26	ENSP00000263246:R26Q;ENSP00000338379:R26Q;ENSP00000385952:R26Q;ENSP00000385372:R26Q;ENSP00000385040:R26Q;ENSP00000398573:R26Q;ENSP00000396816:R26Q;ENSP00000403435:R26Q	ENSP00000263246:R26Q	R	-	2	0	PACSIN2	41619547	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.805000	0.69143	2.793000	0.96121	0.563000	0.77884	CGG	.		0.632	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229	
PRRT3	285368	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	9988097	9988097	+	Silent	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:9988097G>A	ENST00000412055.1	-	4	2889	c.2760C>T	c.(2758-2760)cgC>cgT	p.R920R	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	920						integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						ACAGCCCGTGGCGCCAGGGGT	0.642																																					p.R920R		.											.	PRRT3-90	0			c.C2760T						.						15.0	20.0	18.0					3																	9988097		1958	4145	6103	SO:0001819	synonymous_variant	285368	exon4			CCCGTGGCGCCAG	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.2760C>T	3.37:g.9988097G>A		126	0		258	67	NM_207351	0	0	0	0	0	Q49AD0|Q6UXY6|Q8NBC9	Silent	SNP	ENST00000412055.1	37	CCDS43049.1																																																																																			.		0.642	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351	
CCDC13	152206	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	42799655	42799655	+	Silent	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:42799655G>A	ENST00000310232.6	-	2	266	c.183C>T	c.(181-183)caC>caT	p.H61H	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	61										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GCTCCCCTGCGTGGAGAAGGC	0.488																																					p.H61H		.											.	CCDC13-91	0			c.C183T						.						170.0	147.0	155.0					3																	42799655		2203	4300	6503	SO:0001819	synonymous_variant	152206	exon2			CCCTGCGTGGAGA	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.183C>T	3.37:g.42799655G>A		76	0		129	29	NM_144719	0	0	0	0	0		Silent	SNP	ENST00000310232.6	37	CCDS2705.1																																																																																			.		0.488	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719	
SACM1L	22908	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	45776839	45776839	+	Missense_Mutation	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:45776839C>T	ENST00000389061.5	+	14	1417	c.1213C>T	c.(1213-1215)Cgt>Tgt	p.R405C	SACM1L_ENST00000418611.1_Missense_Mutation_p.R302C|SACM1L_ENST00000541314.1_Missense_Mutation_p.R344C	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	405	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TTTGTTAGCTCGTCGTTCACT	0.418																																					p.R405C		.											.	SACM1L-91	0			c.C1213T						.						163.0	139.0	147.0					3																	45776839		2203	4300	6503	SO:0001583	missense	22908	exon14			TTAGCTCGTCGTT	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.1213C>T	3.37:g.45776839C>T	ENSP00000373713:p.Arg405Cys	109	0		119	35	NM_014016	0	0	0	0	0	A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946492	0.92593	.	.	ENSG00000211456	ENST00000418611;ENST00000389061;ENST00000541314;ENST00000433336	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.68	5.68	0.88126	Synaptojanin, N-terminal (1);	0.157463	0.64402	D	0.000016	T	0.69975	0.3171	M	0.92219	3.285	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	P;D;D	0.68039	0.901;0.924;0.955	T	0.77504	-0.2563	10	0.87932	D	0	-3.7603	19.7934	0.96469	0.0:1.0:0.0:0.0	.	344;48;405	B4DK71;B3KX17;Q9NTJ5	.;.;SAC1_HUMAN	C	302;405;344;82	ENSP00000396387:R302C;ENSP00000373713:R405C;ENSP00000443373:R344C;ENSP00000412883:R82C	ENSP00000373713:R405C	R	+	1	0	SACM1L	45751843	1.000000	0.71417	0.664000	0.29753	0.997000	0.91878	4.482000	0.60257	2.678000	0.91216	0.585000	0.79938	CGT	.		0.418	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016	
SCAP	22937	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	47455478	47455481	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	CTGT	CTGT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:47455478_47455481delCTGT	ENST00000265565.5	-	23	4115_4118	c.3703_3706delACAG	c.(3703-3708)acagtcfs	p.TV1235fs	SCAP_ENST00000441517.2_Frame_Shift_Del_p.TV979fs|SCAP_ENST00000545718.1_Frame_Shift_Del_p.TV842fs	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1235	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCCAGGTAGACTGTCTGTAACAGG	0.583																																					p.1235_1236del	Pancreas(149;978 1908 29304 37806 46700)	.											.	SCAP-91	0			c.3703_3706del						.																																			SO:0001589	frameshift_variant	22937	exon23			GGTAGACTGTCTG	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3703_3706delACAG	3.37:g.47455482_47455485delCTGT	ENSP00000265565:p.Thr1235fs	103	0		137	0	NM_012235	0	0	0	0	0	Q8N2E0|Q8WUA1	Frame_Shift_Del	DEL	ENST00000265565.5	37	CCDS2755.2																																																																																			.		0.583	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235	
CACNA1D	776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	53844133	53844133	+	Silent	SNP	G	G	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:53844133G>C	ENST00000350061.5	+	47	6511	c.6000G>C	c.(5998-6000)ctG>ctC	p.L2000L	CACNA1D_ENST00000288139.4_Silent_p.L2020L|CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000422281.2_Silent_p.L1976L	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2000					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACACCCCCCTGATCCAAGTGG	0.647																																					p.L2020L		.											.	CACNA1D-100	0			c.G6060C						.						51.0	50.0	50.0					3																	53844133		2203	4300	6503	SO:0001819	synonymous_variant	776	exon48			CCCCCTGATCCAA	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.6000G>C	3.37:g.53844133G>C		128	0		177	38	NM_000720	0	0	0	0	0	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	CCDS46848.1																																																																																			.		0.647	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	
LRIG1	26018	hgsc.bcm.edu	37	3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C	rs1403626	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	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		8	8	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	
GBE1	2632	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	81627176	81627176	+	Silent	SNP	C	C	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:81627176C>A	ENST00000429644.2	-	12	2161	c.1518G>T	c.(1516-1518)ctG>ctT	p.L506L	GBE1_ENST00000489715.1_Silent_p.L465L	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	506					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TAAAAGGAGTCAGGACACTCA	0.403									Glycogen Storage Disease, type IV																												p.L506L		.											.	GBE1-25	0			c.G1518T						.						90.0	86.0	87.0					3																	81627176		1950	4153	6103	SO:0001819	synonymous_variant	2632	exon12	Familial Cancer Database	Andersen Disease, Brancher deficiency	AGGAGTCAGGACA		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1518G>T	3.37:g.81627176C>A		95	1		84	17	NM_000158	0	0	0	0	0	B3KWV3|Q96EN0	Silent	SNP	ENST00000429644.2	37	CCDS54612.1																																																																																			.		0.403	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2		
PTPLB	201562	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	123247281	123247281	+	Silent	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:123247281C>T	ENST00000383657.5	-	4	490	c.333G>A	c.(331-333)gtG>gtA	p.V111V		NM_198402.3	NP_940684.1	Q6Y1H2	HACD2_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b	111					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			kidney(2)	2				GBM - Glioblastoma multiforme(114;0.1)		CTCTTGACATCACCTGGAAAG	0.328																																					p.V111V		.											.	PTPLB-226	0			c.G333A						.						161.0	143.0	149.0					3																	123247281		1835	4104	5939	SO:0001819	synonymous_variant	201562	exon4			TGACATCACCTGG	AK074605	CCDS46895.1	3q21.1	2010-04-30			ENSG00000206527	ENSG00000206527			9640	protein-coding gene	gene with protein product		615939				15024066	Standard	NM_198402		Approved		uc003egj.2	Q6Y1H2	OTTHUMG00000159529	ENST00000383657.5:c.333G>A	3.37:g.123247281C>T		83	0		43	6	NM_198402	0	0	0	0	0		Silent	SNP	ENST00000383657.5	37	CCDS46895.1																																																																																			.		0.328	PTPLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356021.3	NM_198402	
MYLK	4638	bcgsc.ca	37	3	123357037	123357037	+	Silent	SNP	A	A	G	rs820463	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:123357037A>G	ENST00000475616.1	-	26	4841	c.4842T>C	c.(4840-4842)aaT>aaC	p.N1614N	MYLK_ENST00000360772.3_Silent_p.N1614N|MYLK_ENST00000359169.1_Silent_p.N1614N|MYLK_ENST00000360304.3_Silent_p.N1614N|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000354792.5_Silent_p.N414N|MYLK_ENST00000346322.5_Silent_p.N1545N			Q15746	MYLK_HUMAN	myosin light chain kinase	1614	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GAGACCCCGCATTCTCTGAAA	0.552													A|||	1875	0.374401	0.4743	0.3271	5008	,	,		20106	0.6399		0.0785	False		,,,				2504	0.3037				p.N1614N		.											.	MYLK-365	0			c.T4842C						.	A	,,,	1798,2608	529.2+/-372.6	372,1054,777	57.0	58.0	58.0		4842,4635,4842,4635	-0.1	1.0	3	dbSNP_86	58	776,7824	184.5+/-232.4	41,694,3565	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	,,,	413,1748,4342	GG,GA,AA		9.0233,40.808,19.7909	,,,	1614/1915,1545/1846,1614/1864,1545/1795	123357037	2574,10432	2203	4300	6503	SO:0001819	synonymous_variant	4638	exon29			CCCCGCATTCTCT	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4842T>C	3.37:g.123357037A>G		158	0		126	5	NM_053025	0	0	0	0	0	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	CCDS46896.1																																																																																			A|0.733;G|0.267		0.552	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	
COL6A5	256076	broad.mit.edu	37	3	130098349	130098349	+	Silent	SNP	G	G	A	rs16845861	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:130098349G>A	ENST00000432398.2	+	4	1250	c.756G>A	c.(754-756)agG>agA	p.R252R	COL6A5_ENST00000265379.6_Silent_p.R252R	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	252	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GAAATTTAAGGCATCTTCAGA	0.468													G|||	1956	0.390575	0.4697	0.4553	5008	,	,		20494	0.5099		0.2008	False		,,,				2504	0.3098				p.R252R		.											.	.	0			c.G756A						.	G		583,801		114,355,223	95.0	85.0	88.0		756	4.2	0.0	3	dbSNP_123	88	696,2486		84,528,979	no	coding-synonymous	COL6A5	NM_153264.5		198,883,1202	AA,AG,GG		21.873,42.1243,28.0114		252/2527	130098349	1279,3287	692	1591	2283	SO:0001819	synonymous_variant	256076	exon4			TTTAAGGCATCTT	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.756G>A	3.37:g.130098349G>A		147	0		95	5	NM_153264	0	0	0	0	0	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37																																																																																				G|0.633;A|0.367		0.468	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264	
ASTE1	28990	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	130737507	130737507	+	Missense_Mutation	SNP	C	C	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:130737507C>A	ENST00000264992.3	-	4	1797	c.1356G>T	c.(1354-1356)caG>caT	p.Q452H	ASTE1_ENST00000514044.1_Missense_Mutation_p.Q452H	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	452					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CCAGAATGGTCTGTTTCACCT	0.473																																					p.Q452H		.											.	ASTE1-90	0			c.G1356T						.						131.0	127.0	128.0					3																	130737507		2203	4300	6503	SO:0001583	missense	28990	exon4			AATGGTCTGTTTC	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1356G>T	3.37:g.130737507C>A	ENSP00000264992:p.Gln452His	160	0		117	12	NM_014065	0	0	0	0	0	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	CCDS3068.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.925|1.925	-0.447480|-0.447480	0.04572|0.04572	.|.	.|.	ENSG00000034533|ENSG00000034533	ENST00000514044;ENST00000264992|ENST00000505290	.|.	.|.	.|.	5.48|5.48	2.59|2.59	0.31030|0.31030	.|.	0.477633|.	0.24750|.	N|.	0.035917|.	T|T	0.33059|0.33059	0.0850|0.0850	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;B|.	0.10296|.	0.003;0.001|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.21245|0.21245	-1.0251|-1.0251	9|5	0.33940|.	T|.	0.23|.	-2.9892|-2.9892	5.5466|5.5466	0.17067|0.17067	0.0:0.5058:0.2775:0.2167|0.0:0.5058:0.2775:0.2167	.|.	452;452|.	D6RG30;Q2TB18|.	.;ASTE1_HUMAN|.	H|I	452|29	.|.	ENSP00000264992:Q452H|.	Q|R	-|-	3|2	2|0	ASTE1|ASTE1	132220197|132220197	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.001000|0.001000	0.01503|0.01503	-0.318000|-0.318000	0.08050|0.08050	0.702000|0.702000	0.31825|0.31825	-0.188000|-0.188000	0.12872|0.12872	CAG|AGA	.		0.473	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065	
TSC22D2	9819	hgsc.bcm.edu	37	3	150128392	150128392	+	Missense_Mutation	SNP	G	G	A	rs879634	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:150128392G>A	ENST00000361875.3	+	1	2271	c.1255G>A	c.(1255-1257)Gct>Act	p.A419T	TSC22D2_ENST00000361136.2_Missense_Mutation_p.A419T	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	419			A -> T (in dbSNP:rs879634).		response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGGCCAGAATGCTTCCTCGGT	0.771													G|||	952	0.190096	0.2224	0.1657	5008	,	,		13018	0.0407		0.2724	False		,,,				2504	0.2331				p.A419T		.											.	TSC22D2-91	0			c.G1255A						.	G	THR/ALA	435,2751		29,377,1187	2.0	3.0	3.0		1255	1.5	0.0	3	dbSNP_86	3	1458,5444		170,1118,2163	yes	missense	TSC22D2	NM_014779.2	58	199,1495,3350	AA,AG,GG		21.1243,13.6535,18.7649	benign	419/781	150128392	1893,8195	1593	3451	5044	SO:0001583	missense	9819	exon1			CAGAATGCTTCCT	AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.1255G>A	3.37:g.150128392G>A	ENSP00000354543:p.Ala419Thr	0	0		28	13	NM_014779	0	0	0	0	0	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	433	0.19826007326007325	126	0.25609756097560976	72	0.19889502762430938	23	0.04020979020979021	212	0.2796833773087071	G	1.438	-0.568481	0.03910	0.136535	0.211243	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.30182	1.54;1.54	3.57	1.47	0.22746	.	0.687211	0.12935	N	0.427041	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.002	T	0.33599	-0.9862	9	0.51188	T	0.08	.	6.993	0.24765	0.0:0.4503:0.379:0.1707	rs879634;rs3749399;rs58335631	419;419	O75157-2;O75157	.;T22D2_HUMAN	T	419	ENSP00000354543:A419T;ENSP00000354893:A419T	ENSP00000354893:A419T	A	+	1	0	TSC22D2	151611082	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.305000	0.19254	0.805000	0.34159	0.557000	0.71058	GCT	G|0.797;A|0.203		0.771	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779	
LRRC31	79782	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	169558017	169558017	+	Missense_Mutation	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:169558017G>A	ENST00000316428.5	-	9	1469	c.1412C>T	c.(1411-1413)aCc>aTc	p.T471I	LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.T415I	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	471										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GCAGAACATGGTCCACCCCGC	0.478																																					p.P471L		.											.	LRRC31-93	0			c.C1412T						.						125.0	118.0	120.0					3																	169558017		2017	4176	6193	SO:0001583	missense	79782	exon9			AACATGGTCCACC	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1412C>T	3.37:g.169558017G>A	ENSP00000325978:p.Thr471Ile	137	0		217	24	NM_024727	0	0	0	0	0	B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	G	7.696	0.692112	0.15039	.	.	ENSG00000114248	ENST00000316428;ENST00000264676	T;T	0.51817	0.69;0.69	4.24	4.24	0.50183	.	0.583489	0.18815	N	0.130410	T	0.30103	0.0754	N	0.19112	0.55	0.20196	N	0.99992	P;P	0.38078	0.617;0.521	B;B	0.37650	0.173;0.255	T	0.09509	-1.0671	10	0.20046	T	0.44	-3.6309	9.2447	0.37518	0.1715:0.0:0.8285:0.0	.	415;471	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	I	471;415	ENSP00000325978:T471I;ENSP00000264676:T415I	ENSP00000264676:T415I	T	-	2	0	LRRC31	171040711	0.600000	0.26899	0.734000	0.30879	0.106000	0.19336	2.296000	0.43584	2.077000	0.62373	0.555000	0.69702	ACC	.		0.478	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727	
HTR3D	200909	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	183756600	183756600	+	Missense_Mutation	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:183756600G>A	ENST00000382489.3	+	8	1202	c.1202G>A	c.(1201-1203)gGc>gAc	p.G401D	HTR3D_ENST00000428798.2_Missense_Mutation_p.G351D|HTR3D_ENST00000334128.2_Missense_Mutation_p.G226D|HTR3D_ENST00000453435.1_Missense_Mutation_p.G180D	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	401					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	CTGACAGGGGGCTCAGAATGG	0.627																																					p.G401D		.											.	HTR3D-90	0			c.G1202A						.						60.0	59.0	59.0					3																	183756600		2203	4300	6503	SO:0001583	missense	200909	exon8			CAGGGGGCTCAGA	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.1202G>A	3.37:g.183756600G>A	ENSP00000371929:p.Gly401Asp	280	1		488	75	NM_001163646	0	0	0	0	0	C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	ENST00000382489.3	37	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	G	9.427	1.084489	0.20309	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51	3.8	-0.264	0.12950	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.979436	0.08333	N	0.961952	T	0.56731	0.2005	N	0.11560	0.145	0.09310	N	1	B;B;B;B	0.14012	0.002;0.002;0.009;0.002	B;B;B;B	0.17098	0.017;0.009;0.013;0.011	T	0.40627	-0.9553	10	0.11485	T	0.65	-0.9225	2.7532	0.05286	0.3539:0.0:0.4388:0.2073	.	401;226;180;226	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	D	226;351;401;180	ENSP00000334315:G226D;ENSP00000405409:G351D;ENSP00000371929:G401D;ENSP00000389268:G180D	ENSP00000334315:G226D	G	+	2	0	HTR3D	185239294	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	0.412000	0.21131	0.027000	0.15297	0.563000	0.77884	GGC	.		0.627	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388755	1388755	+	Silent	SNP	C	C	G	rs373946226	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	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		3	0		72	13	NM_175918	0	0	0	0	0	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	
TNIP2	79155	hgsc.bcm.edu	37	4	2757800	2757800	+	Missense_Mutation	SNP	G	G	C	rs74548850	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr4:2757800G>C	ENST00000315423.7	-	1	303	c.217C>G	c.(217-219)Cgc>Ggc	p.R73G	TNIP2_ENST00000510267.1_5'UTR|TNIP2_ENST00000503235.1_Missense_Mutation_p.R73G	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCCGGAAGCGCGCAACCTGC	0.756													G|||	210	0.0419329	0.025	0.0447	5008	,	,		6355	0.0288		0.0408	False		,,,				2504	0.0777				p.R73G		.											.	TNIP2-90	0			c.C217G						.	G	GLY/ARG	60,3592		0,60,1766	5.0	7.0	6.0		217	2.8	1.0	4	dbSNP_131	6	267,7455		4,259,3598	no	missense	TNIP2	NM_024309.3	125	4,319,5364	CC,CG,GG		3.4577,1.6429,2.875	probably-damaging	73/430	2757800	327,11047	1826	3861	5687	SO:0001583	missense	79155	exon1			GGAAGCGCGCAAC	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.217C>G	4.37:g.2757800G>C	ENSP00000321203:p.Arg73Gly	0	0		15	8	NM_024309	0	0	0	0	0		Missense_Mutation	SNP	ENST00000315423.7	37	CCDS3362.1	94	0.04304029304029304	17	0.034552845528455285	18	0.049723756906077346	18	0.03146853146853147	41	0.05408970976253298	G	19.51	3.841781	0.71488	0.016429	0.034577	ENSG00000168884	ENST00000315423;ENST00000503235	T;T	0.48522	0.82;0.81	3.62	2.75	0.32379	.	0.480578	0.20050	N	0.100314	T	0.14399	0.0348	M	0.65975	2.015	0.27856	N	0.940558	D;P	0.62365	0.991;0.481	P;B	0.52217	0.693;0.071	T	0.11299	-1.0593	10	0.23302	T	0.38	-8.2753	9.2129	0.37328	0.0:0.0:0.7823:0.2177	.	73;73	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	G	73	ENSP00000321203:R73G;ENSP00000426314:R73G	ENSP00000321203:R73G	R	-	1	0	TNIP2	2727598	0.882000	0.30256	1.000000	0.80357	0.927000	0.56198	1.083000	0.30815	0.689000	0.31550	0.498000	0.49722	CGC	G|0.957;C|0.043		0.756	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309	
JAKMIP1	152789	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	6114570	6114570	+	Missense_Mutation	SNP	T	T	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr4:6114570T>C	ENST00000282924.5	-	2	493	c.8A>G	c.(7-9)aAg>aGg	p.K3R	JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.K3R|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.K3R|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.K3R|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.K3R	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	3	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCGGCCTTTCTTCGACATGCT	0.627																																					p.K3R		.											.	JAKMIP1-292	0			c.A8G						.						93.0	72.0	79.0					4																	6114570		2203	4300	6503	SO:0001583	missense	152789	exon2			CCTTTCTTCGACA	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.8A>G	4.37:g.6114570T>C	ENSP00000282924:p.Lys3Arg	60	0		85	27	NM_001099433	0	0	0	0	0	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.563612	0.65651	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.37752	1.64;1.23;1.63;1.63;1.18	3.94	3.94	0.45596	.	0.000000	0.64402	D	0.000003	T	0.47691	0.1459	L	0.39633	1.23	0.29931	N	0.821929	D;D;D;D;B	0.67145	0.996;0.996;0.996;0.996;0.015	D;D;D;D;B	0.77557	0.981;0.99;0.981;0.981;0.011	T	0.42849	-0.9427	10	0.37606	T	0.19	.	12.1489	0.54038	0.0:0.0:0.0:1.0	.	3;3;3;3;3	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	R	3	ENSP00000386711:K3R;ENSP00000387042:K3R;ENSP00000282924:K3R;ENSP00000386925:K3R;ENSP00000386745:K3R	ENSP00000282924:K3R	K	-	2	0	JAKMIP1	6165471	1.000000	0.71417	0.928000	0.36995	0.466000	0.32739	5.317000	0.65822	1.661000	0.50771	0.482000	0.46254	AAG	.		0.627	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720	
CCDC96	257236	hgsc.bcm.edu	37	4	7044357	7044357	+	Silent	SNP	A	A	G	rs871133	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr4:7044357A>G	ENST00000310085.4	-	1	371	c.309T>C	c.(307-309)gtT>gtC	p.V103V	TADA2B_ENST00000310074.7_5'Flank|TADA2B_ENST00000512388.1_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	103	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CCTCAGCCCCAACCTCGGCCG	0.766													G|||	4833	0.965056	0.8979	0.9856	5008	,	,		11811	1.0		0.9702	False		,,,				2504	1.0				p.V103V		.											.	CCDC96-90	0			c.T309C						.	G		2893,205		1348,197,4	3.0	3.0	3.0		309	-4.5	0.0	4	dbSNP_86	3	6689,125		3282,125,0	no	coding-synonymous	CCDC96	NM_153376.2		4630,322,4	GG,GA,AA		1.8345,6.6172,3.3293		103/556	7044357	9582,330	1549	3407	4956	SO:0001819	synonymous_variant	257236	exon1			AGCCCCAACCTCG	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.309T>C	4.37:g.7044357A>G		0	0		10	10	NM_153376	0	0	0	0	0	Q8N2I7	Silent	SNP	ENST00000310085.4	37	CCDS3395.1																																																																																			A|0.036;G|0.964		0.766	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376	
SEL1L3	23231	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	25760664	25760664	+	Silent	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr4:25760664G>A	ENST00000399878.3	-	21	3104	c.2982C>T	c.(2980-2982)atC>atT	p.I994I	SEL1L3_ENST00000502949.1_Silent_p.I841I|SEL1L3_ENST00000264868.5_Silent_p.I959I	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	994						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TACCTTCCTCGATTAGCAGGG	0.388																																					p.I994I		.											.	.	0			c.C2982T						.						140.0	133.0	135.0					4																	25760664		1852	4096	5948	SO:0001819	synonymous_variant	23231	exon21			TTCCTCGATTAGC	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2982C>T	4.37:g.25760664G>A		78	1		79	37	NM_015187	0	0	0	0	0	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Silent	SNP	ENST00000399878.3	37	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	G	8.463	0.855732	0.17106	.	.	ENSG00000091490	ENST00000510448	.	.	.	5.56	-3.59	0.04583	.	.	.	.	.	T	0.36552	0.0971	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35276	-0.9795	4	.	.	.	-13.1425	0.8547	0.01180	0.3528:0.0985:0.2492:0.2996	.	.	.	.	L	21	.	.	S	-	2	0	SEL1L3	25369762	0.528000	0.26314	0.611000	0.29010	0.858000	0.48976	-0.416000	0.07097	-0.465000	0.06953	-0.290000	0.09829	TCG	.		0.388	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187	
ZAR1	326340	hgsc.bcm.edu	37	4	48492434	48492434	+	Missense_Mutation	SNP	G	G	C	rs10008444	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	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		10	10	NM_175619	0	0	0	0	0		Missense_Mutation	SNP	ENST00000327939.4	37	CCDS3483.1	2130	0.9752747252747253	449	0.9126016260162602	359	0.9917127071823204	565	0.9877622377622378	757	0.9986807387862797	C	0.021	-1.426522	0.01117	0.969728	1.0	ENSG00000182223	ENST00000327939	.	.	.	4.09	-0.185	0.13276	.	0.811302	0.10779	N	0.635071	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.22103	-1.0226	8	0.14252	T	0.57	-31.571	6.2995	0.21105	0.0:0.2927:0.4307:0.2766	rs10008444;rs58304706	42	Q86SH2	ZAR1_HUMAN	H	42	.	ENSP00000329803:Q42H	Q	+	3	2	ZAR1	48187191	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.053000	0.14184	-0.405000	0.07599	-0.676000	0.03789	CAG	G|0.025;C|0.975		0.756	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3		
SOWAHB	345079	hgsc.bcm.edu	37	4	77818202	77818202	+	Silent	SNP	T	T	C	rs2645674	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr4:77818202T>C	ENST00000334306.2	-	1	800	c.801A>G	c.(799-801)acA>acG	p.T267T		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	267	Ala-rich.																AAGCCCTGCTTGTCGCAGCCT	0.726													C|||	1670	0.333466	0.4887	0.2392	5008	,	,		13358	0.2292		0.332	False		,,,				2504	0.2996				p.T267T		.											.	.	0			c.A801G						.	C		1258,2610		207,844,883	3.0	5.0	4.0		801	-3.8	0.0	4	dbSNP_100	4	1803,5973		226,1351,2311	no	coding-synonymous	ANKRD56	NM_001029870.1		433,2195,3194	CC,CT,TT		23.1867,32.5233,26.2882		267/794	77818202	3061,8583	1934	3888	5822	SO:0001819	synonymous_variant	345079	exon1			CCTGCTTGTCGCA		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.801A>G	4.37:g.77818202T>C		1	0		10	6	NM_001029870	0	0	0	0	0	B2RP29	Silent	SNP	ENST00000334306.2	37	CCDS34017.1																																																																																			T|0.691;C|0.309		0.726	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870	
ALPK1	80216	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	113352657	113352657	+	Missense_Mutation	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr4:113352657G>A	ENST00000458497.1	+	11	2233	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	ALPK1_ENST00000177648.9_Missense_Mutation_p.E652K|ALPK1_ENST00000504176.2_Missense_Mutation_p.E574K	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	652							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTCTCTTCAGGAACCCAACAA	0.483																																					p.E652K		.											.	ALPK1-337	0			c.G1954A						.						83.0	79.0	81.0					4																	113352657		2203	4300	6503	SO:0001583	missense	80216	exon11			CTTCAGGAACCCA	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.1954G>A	4.37:g.113352657G>A	ENSP00000398048:p.Glu652Lys	124	1		116	17	NM_001102406	0	0	0	0	0	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	6.496	0.459767	0.12342	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02525	4.33;4.33;4.26	5.1	1.27	0.21489	.	1.650740	0.03103	N	0.161349	T	0.02494	0.0076	L	0.29908	0.895	0.09310	N	1	B;B;B	0.29716	0.231;0.255;0.148	B;B;B	0.24848	0.056;0.037;0.025	T	0.45249	-0.9274	10	0.07175	T	0.84	0.3709	6.55	0.22427	0.2228:0.1283:0.6489:0.0	.	574;574;652	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	K	652;652;574	ENSP00000398048:E652K;ENSP00000177648:E652K;ENSP00000426044:E574K	ENSP00000177648:E652K	E	+	1	0	ALPK1	113572106	0.004000	0.15560	0.002000	0.10522	0.005000	0.04900	0.777000	0.26718	0.142000	0.18901	0.591000	0.81541	GAA	.		0.483	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144	
INTU	27152	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	128628123	128628123	+	Splice_Site	SNP	A	A	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr4:128628123A>T	ENST00000335251.6	+	12	2373	c.2270A>T	c.(2269-2271)aAg>aTg	p.K757M		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	757					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						ACCTTGCTTAAGGTGTGTGCT	0.428																																					p.K757M		.											.	INTU-91	0			c.A2270T						.						171.0	172.0	172.0					4																	128628123		2203	4300	6503	SO:0001630	splice_region_variant	27152	exon12			TGCTTAAGGTGTG	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2271+1A>T	4.37:g.128628123A>T		151	0		127	17	NM_015693	0	0	0	0	0	A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.246633	0.39697	.	.	ENSG00000164066	ENST00000335251	.	.	.	4.36	4.36	0.52297	.	0.172062	0.49916	D	0.000127	T	0.66886	0.2835	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	P	0.62813	0.907	T	0.69986	-0.4996	9	0.62326	D	0.03	-9.4626	14.2792	0.66200	1.0:0.0:0.0:0.0	.	757	Q9ULD6	PDZD6_HUMAN	M	757	.	ENSP00000334003:K757M	K	+	2	0	INTU	128847573	1.000000	0.71417	0.994000	0.49952	0.134000	0.20937	3.406000	0.52637	2.193000	0.70182	0.528000	0.53228	AAG	.		0.428	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707	Missense_Mutation
PCDH10	57575	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	134072249	134072249	+	Silent	SNP	T	T	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr4:134072249T>C	ENST00000264360.5	+	1	1780	c.954T>C	c.(952-954)taT>taC	p.Y318Y	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	318	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGTTGGACTATGAAGAGAGCC	0.612																																					p.Y318Y		.											.	PCDH10-92	0			c.T954C						.						75.0	69.0	71.0					4																	134072249		2203	4300	6503	SO:0001819	synonymous_variant	57575	exon1			GGACTATGAAGAG	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.954T>C	4.37:g.134072249T>C		123	0		156	40	NM_032961	0	0	0	0	0	Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	CCDS34063.1																																																																																			.		0.612	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
TTC29	83894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	147830303	147830303	+	Missense_Mutation	SNP	T	T	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr4:147830303T>G	ENST00000325106.4	-	5	501	c.275A>C	c.(274-276)gAt>gCt	p.D92A	TTC29_ENST00000513335.1_Missense_Mutation_p.D118A|TTC29_ENST00000398886.4_Missense_Mutation_p.D118A	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	92										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CCTCAGGGCATCCCACCGCTC	0.527																																					p.D92A		.											.	TTC29-90	0			c.A275C						.						66.0	68.0	67.0					4																	147830303		1928	4136	6064	SO:0001583	missense	83894	exon5			AGGGCATCCCACC	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.275A>C	4.37:g.147830303T>G	ENSP00000316740:p.Asp92Ala	57	0		49	10	NM_031956	0	0	0	0	0	A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	T	14.30	2.492834	0.44352	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.23	5.23	0.72850	.	0.690269	0.14722	N	0.302249	T	0.18425	0.0442	L	0.54323	1.7	0.36089	D	0.843349	P;P;P	0.46142	0.488;0.873;0.488	B;B;B	0.39660	0.079;0.306;0.079	T	0.20739	-1.0266	10	0.15499	T	0.54	-6.6917	15.4425	0.75195	0.0:0.0:0.0:1.0	.	92;118;92	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	A	118;118;92;92;92	ENSP00000423505:D118A;ENSP00000381861:D118A;ENSP00000316740:D92A;ENSP00000425778:D92A	ENSP00000316740:D92A	D	-	2	0	TTC29	148049753	0.990000	0.36364	0.915000	0.36163	0.830000	0.47004	2.245000	0.43133	2.100000	0.63781	0.533000	0.62120	GAT	.		0.527	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956	
SRD5A1	6715	hgsc.bcm.edu	37	5	6633779	6633779	+	Silent	SNP	C	C	G	rs248793	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:6633779C>G	ENST00000274192.5	+	1	324	c.90C>G	c.(88-90)cgC>cgG	p.R30R	SRD5A1_ENST00000504286.1_3'UTR|NSUN2_ENST00000264670.6_5'Flank|SRD5A1_ENST00000537411.1_Missense_Mutation_p.A39G|NSUN2_ENST00000539938.1_5'Flank|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A39G|NSUN2_ENST00000506139.1_5'Flank	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	30				Missing (in Ref. 4; AAF14869). {ECO:0000305}.	androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TCTTCGCGCGCAATCGTCAGA	0.746													G|||	2833	0.565695	0.6936	0.6816	5008	,	,		9293	0.3899		0.5537	False		,,,				2504	0.5041				p.R30R		.											.	SRD5A1-90	0			c.C90G						.	G		2367,1089		855,657,216	5.0	6.0	5.0		90	0.8	0.0	5	dbSNP_79	5	4176,3144		1277,1622,761	no	coding-synonymous	SRD5A1	NM_001047.2		2132,2279,977	GG,GC,CC		42.9508,31.5104,39.2817		30/260	6633779	6543,4233	1728	3660	5388	SO:0001819	synonymous_variant	6715	exon1			CGCGCGCAATCGT	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.90C>G	5.37:g.6633779C>G		0	0		9	6	NM_001047	0	0	0	0	0	B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Silent	SNP	ENST00000274192.5	37	CCDS3870.1	1204	0.5512820512820513	332	0.6747967479674797	242	0.6685082872928176	214	0.3741258741258741	416	0.5488126649076517	G	11.09	1.537057	0.27475	0.684896	0.570492	ENSG00000145545	ENST00000537411;ENST00000538824	T	0.23552	1.9	3.76	0.815	0.18763	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28073	-1.0055	7	0.87932	D	0	-7.7997	5.3187	0.15870	0.1814:0.3179:0.5008:0.0	rs248793;rs1691051;rs17850143;rs17850363;rs57936391	39	F5GXK9	.	G	39	ENSP00000440186:A39G	ENSP00000446275:A39G	A	+	2	0	SRD5A1	6686779	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	1.407000	0.34657	-0.193000	0.10415	-0.132000	0.14878	GCA	C|0.454;G|0.546		0.746	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047	
EGFLAM	133584	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	38418285	38418285	+	Missense_Mutation	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:38418285C>T	ENST00000354891.3	+	12	1958	c.1612C>T	c.(1612-1614)Ctc>Ttc	p.L538F	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000322350.5_Missense_Mutation_p.L538F|EGFLAM_ENST00000336740.6_Missense_Mutation_p.L304F	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	538	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGTGCAGTCGCTCGCTGTGAA	0.572																																					p.L538F	Colon(62;485 1295 3347 17454)	.											.	EGFLAM-187	0			c.C1612T						.						92.0	96.0	95.0					5																	38418285		2203	4300	6503	SO:0001583	missense	133584	exon12			CAGTCGCTCGCTG	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1612C>T	5.37:g.38418285C>T	ENSP00000346964:p.Leu538Phe	152	2		205	35	NM_001205301	0	0	0	0	0	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198453	0.58126	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.78707	-1.2;-1.2;-1.2	5.78	4.9	0.64082	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.85097	0.5619	L	0.60904	1.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.985	D;D;D	0.91635	0.996;0.999;0.943	D	0.83460	0.0053	10	0.37606	T	0.19	-17.3699	15.2287	0.73369	0.0:0.9314:0.0:0.0686	.	304;538;538	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	F	538;538;304;304	ENSP00000346964:L538F;ENSP00000313084:L538F;ENSP00000337607:L304F	ENSP00000313084:L538F	L	+	1	0	EGFLAM	38454042	1.000000	0.71417	0.258000	0.24420	0.447000	0.32167	4.633000	0.61318	2.718000	0.92993	0.557000	0.71058	CTC	.		0.572	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403	
NAIP	4671	broad.mit.edu;bcgsc.ca	37	5	70308258	70308258	+	Missense_Mutation	SNP	C	C	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:70308258C>G	ENST00000517649.1	-	4	775	c.485G>C	c.(484-486)aGa>aCa	p.R162T	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.R162T|NAIP_ENST00000508426.2_Missense_Mutation_p.R162T	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	162					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GGACGCAAGTCTAGCCTCCTC	0.458																																					p.R162T		.											.	NAIP-205	0			c.G485C						.						196.0	144.0	162.0					5																	70308258		2202	4296	6498	SO:0001583	missense	4671	exon4			GCAAGTCTAGCCT	U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"""Baculoviral IAP repeat containing"", ""Nucleotide-binding domain and leucine rich repeat containing"""	7634	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1"", ""NLR family, BIR domain containing 1"""	600355	"""baculoviral IAP repeat-containing 1"""	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.485G>C	5.37:g.70308258C>G	ENSP00000428657:p.Arg162Thr	120	0		204	6	NM_004536	0	0	0	0	0	B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	ENST00000517649.1	37	CCDS4009.1	.	.	.	.	.	.	.	.	.	.	c	16.17	3.048423	0.55110	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	D;D;D	0.96265	-3.96;-3.96;-3.96	3.26	3.26	0.37387	Baculoviral inhibition of apoptosis protein repeat (5);	.	.	.	.	D	0.98830	0.9605	H	0.98276	4.19	0.44719	D	0.997714	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98805	1.0741	9	0.87932	D	0	.	14.4292	0.67238	0.0:1.0:0.0:0.0	.	162;162	E7EQW0;Q13075	.;BIRC1_HUMAN	T	162	ENSP00000428657:R162T;ENSP00000443944:R162T;ENSP00000429545:R162T	ENSP00000443944:R162T	R	-	2	0	NAIP	70344014	0.853000	0.29707	0.517000	0.27799	0.575000	0.36095	2.927000	0.48900	2.121000	0.65114	0.436000	0.28706	AGA	.		0.458	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536	
HMGCR	3156	broad.mit.edu;bcgsc.ca	37	5	74639696	74639698	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:74639696_74639698delATT	ENST00000287936.4	+	3	340_342	c.184_186delATT	c.(184-186)attdel	p.I64del	HMGCR_ENST00000511206.1_In_Frame_Del_p.I64del|HMGCR_ENST00000343975.5_In_Frame_Del_p.I64del	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	64	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GAGCAGTGACATTATAATTCTGA	0.296																																					p.62_62del		.											.	HMGCR-227	0			c.184_186del						.																																			SO:0001651	inframe_deletion	3156	exon3			AGTGACATTATAA		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.184_186delATT	5.37:g.74639696_74639698delATT	ENSP00000287936:p.Ile64del	278	0		295	38	NM_001130996	0	0	0	0	0	B7Z3Y9|Q8N190	In_Frame_Del	DEL	ENST00000287936.4	37	CCDS4027.1																																																																																			.		0.296	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2		
GPR98	84059	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	90055402	90055402	+	Missense_Mutation	SNP	G	G	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:90055402G>C	ENST00000405460.2	+	58	12213	c.12117G>C	c.(12115-12117)aaG>aaC	p.K4039N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4039	Calx-beta 27. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGAAGAAAAGACTGTAAGTT	0.383																																					p.K4039N		.											.	GPR98-103	0			c.G12117C						.						115.0	108.0	110.0					5																	90055402		1944	4146	6090	SO:0001583	missense	84059	exon58			AGAAAAGACTGTA	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12117G>C	5.37:g.90055402G>C	ENSP00000384582:p.Lys4039Asn	90	0		108	8	NM_032119	0	0	0	0	0	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.72|11.72	1.724122|1.724122	0.30593|0.30593	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.30714|.	1.52|.	5.06|5.06	2.26|2.26	0.28386|0.28386	Na-Ca exchanger/integrin-beta4 (2);|.	0.348459|.	0.33092|.	N|.	0.005291|.	T|T	0.53899|0.53899	0.1825|0.1825	L|L	0.45137|0.45137	1.4|1.4	0.80722|0.80722	D|D	1|1	P;P|.	0.44521|.	0.837;0.801|.	P;P|.	0.48400|.	0.576;0.494|.	T|T	0.41395|0.41395	-0.9511|-0.9511	10|5	0.38643|.	T|.	0.18|.	.|.	9.2834|9.2834	0.37742|0.37742	0.4288:0.0:0.5712:0.0|0.4288:0.0:0.5712:0.0	.|.	4039;4039|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	N|T	4039|1605	ENSP00000384582:K4039N|.	ENSP00000296619:K4039N|.	K|R	+|+	3|2	2|0	GPR98|GPR98	90091158|90091158	0.989000|0.989000	0.36119|0.36119	1.000000|1.000000	0.80357|0.80357	0.821000|0.821000	0.46438|0.46438	0.208000|0.208000	0.17415|0.17415	0.246000|0.246000	0.21394|0.21394	0.563000|0.563000	0.77884|0.77884	AAG|AGA	.		0.383	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
RGMB	285704	hgsc.bcm.edu	37	5	98109838	98109838	+	Missense_Mutation	SNP	A	A	C	rs2662263	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:98109838A>C	ENST00000513185.1	+	1	500	c.64A>C	c.(64-66)Agc>Cgc	p.S22R	RGMB-AS1_ENST00000505362.1_RNA|RGMB-AS1_ENST00000515003.1_RNA|RGMB-AS1_ENST00000498871.2_RNA|RGMB_ENST00000308234.7_Missense_Mutation_p.S63R|RGMB-AS1_ENST00000505677.1_RNA|RGMB-AS1_ENST00000501938.2_RNA|RGMB_ENST00000504776.1_3'UTR			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	22				S -> R (in Ref. 3; AAH67736). {ECO:0000305}.	axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		gcagcgccgcagccccgggct	0.741													C|||	4970	0.992412	1.0	0.9885	5008	,	,		8183	1.0		0.9791	False		,,,				2504	0.9908				p.S63R		.											.	.	0			c.A187C						.						1.0	1.0	1.0					5																	98109838		379	926	1305	SO:0001583	missense	285704	exon3			CGCCGCAGCCCCG	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.64A>C	5.37:g.98109838A>C	ENSP00000423256:p.Ser22Arg	0	0		5	5	NM_001012761	0	0	0	0	0	D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37		2084	0.9542124542124543	469	0.9532520325203252	342	0.9447513812154696	557	0.9737762237762237	716	0.9445910290237467	C	10.21	1.287484	0.23478	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.93019	-3.14;-3.15	4.16	2.33	0.28932	.	.	.	.	.	T	0.00012	0.0000	N	0.01576	-0.805	0.58432	P	6.999999999979245E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.34976	-0.9807	8	0.11794	T	0.64	-0.2125	4.3815	0.11297	0.1608:0.5981:0.1551:0.0861	rs2662263;rs61109719	22	Q6NW40	RGMB_HUMAN	R	63;22	ENSP00000308219:S63R;ENSP00000423256:S22R	ENSP00000308219:S63R	S	+	1	0	RGMB	98137738	0.902000	0.30710	0.372000	0.25991	0.345000	0.29048	0.380000	0.20602	0.144000	0.18951	-0.371000	0.07208	AGC	T|0.046;G|0.950		0.741	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670	
ST8SIA4	7903	hgsc.bcm.edu	37	5	100147798	100147798	+	Missense_Mutation	SNP	G	G	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:100147798G>T	ENST00000231461.5	-	5	1143	c.833C>A	c.(832-834)cCc>cAc	p.P278H		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	278					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		ACCTGTGCTGGGTCTTTTGAT	0.388																																					p.P278H		.											.	ST8SIA4-153	0			c.C833A						.						50.0	53.0	52.0					5																	100147798		2203	4295	6498	SO:0001583	missense	7903	exon5			GTGCTGGGTCTTT	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.833C>A	5.37:g.100147798G>T	ENSP00000231461:p.Pro278His	51	0		87	5	NM_005668	0	0	0	0	0	A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178771	0.78564	.	.	ENSG00000113532	ENST00000231461	T	0.47177	0.85	5.97	5.1	0.69264	.	0.063541	0.64402	D	0.000006	T	0.78824	0.4344	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85965	0.1473	10	0.72032	D	0.01	.	14.2473	0.65997	0.071:0.0:0.929:0.0	.	278	Q92187	SIA8D_HUMAN	H	278	ENSP00000231461:P278H	ENSP00000231461:P278H	P	-	2	0	ST8SIA4	100175697	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.827000	0.99397	1.537000	0.49254	0.655000	0.94253	CCC	.		0.388	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668	
ZNF474	133923	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	121487769	121487769	+	Missense_Mutation	SNP	C	C	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:121487769C>G	ENST00000296600.4	+	2	467	c.84C>G	c.(82-84)aaC>aaG	p.N28K	ZNF474_ENST00000514925.1_Intron|CTC-441N14.1_ENST00000505209.1_RNA|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	28							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		TCCTTATCAACCAAGCTGGGC	0.368																																					p.N28K		.											.	ZNF474-90	0			c.C84G						.						88.0	94.0	92.0					5																	121487769		2203	4300	6503	SO:0001583	missense	133923	exon2			TATCAACCAAGCT	AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"""Zinc fingers, C2H2-type"""	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.84C>G	5.37:g.121487769C>G	ENSP00000296600:p.Asn28Lys	94	0		92	20	NM_207317	0	0	0	0	0	A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	C	6.349	0.432532	0.12045	.	.	ENSG00000164185	ENST00000296600;ENST00000504912;ENST00000505843	T	0.39787	1.06	5.58	3.75	0.43078	.	1.423520	0.05327	U	0.527689	T	0.33440	0.0863	L	0.27053	0.805	0.25122	N	0.99064	B	0.26195	0.144	B	0.21708	0.036	T	0.18967	-1.0320	10	0.09338	T	0.73	-8.9857	14.8286	0.70132	0.0:0.5738:0.4262:0.0	.	28	Q6S9Z5	ZN474_HUMAN	K	28	ENSP00000296600:N28K	ENSP00000296600:N28K	N	+	3	2	ZNF474	121515668	0.029000	0.19370	0.978000	0.43139	0.772000	0.43724	-0.085000	0.11250	0.676000	0.31285	0.655000	0.94253	AAC	.		0.368	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317	
CHSY3	337876	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	129241282	129241282	+	Missense_Mutation	SNP	T	T	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:129241282T>C	ENST00000305031.4	+	1	1118	c.760T>C	c.(760-762)Tat>Cat	p.Y254H	CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	254					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CCTGGACAAGTATGAGTGGTT	0.557																																					p.Y254H		.											.	CHSY3-25	0			c.T760C						.						115.0	118.0	117.0					5																	129241282		2203	4300	6503	SO:0001583	missense	337876	exon1			GACAAGTATGAGT	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.760T>C	5.37:g.129241282T>C	ENSP00000302629:p.Tyr254His	148	0		276	39	NM_175856	0	0	0	0	0	B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.952452	0.73787	.	.	ENSG00000198108	ENST00000305031	D	0.85629	-2.01	3.38	3.38	0.38709	.	0.270927	0.19748	U	0.106970	D	0.91506	0.7318	M	0.81497	2.545	0.58432	D	0.999997	D	0.89917	1.0	D	0.77557	0.99	D	0.91737	0.5401	9	.	.	.	.	12.8485	0.57844	0.0:0.0:0.0:1.0	.	254	Q70JA7	CHSS3_HUMAN	H	254	ENSP00000302629:Y254H	.	Y	+	1	0	CHSY3	129269181	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.747000	0.85070	1.773000	0.52216	0.260000	0.18958	TAT	.		0.557	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856	
PCDHA8	56140	broad.mit.edu;bcgsc.ca	37	5	140221852	140221852	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:140221852delT	ENST00000531613.1	+	1	946	c.946delT	c.(946-948)tacfs	p.Y316fs	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Frame_Shift_Del_p.Y316fs|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	316	Cadherin 3. {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(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAAACTTATACAAAATCCT	0.403																																					p.Y316fs		.											.	PCDHA8-92	0			c.946delT						.						28.0	31.0	30.0					5																	140221852		2172	4278	6450	SO:0001589	frameshift_variant	56140	exon1			AACTTATACAAAA	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.946delT	5.37:g.140221852delT	ENSP00000434655:p.Tyr316fs	435	0		476	66	NM_031856	0	0	0	0	0	B9EGT7|O75281	Frame_Shift_Del	DEL	ENST00000531613.1	37	CCDS54919.1																																																																																			.		0.403	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911	
PCDHA12	56137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140255507	140255507	+	Silent	SNP	T	T	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:140255507T>A	ENST00000398631.2	+	1	450	c.450T>A	c.(448-450)tcT>tcA	p.S150S	PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	150	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGGACTCTCATTTTCCTC	0.448																																					p.S150S	Pancreas(113;759 1672 13322 24104 50104)	.											.	.	0			c.T450A						.						63.0	73.0	70.0					5																	140255507		2203	4300	6503	SO:0001819	synonymous_variant	56137	exon1			GGACTCTCATTTT	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.450T>A	5.37:g.140255507T>A		148	0		197	38	NM_018903	0	0	0	0	0	O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	CCDS47285.1																																																																																			.		0.448	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903	
PCDHB10	56126	hgsc.bcm.edu	37	5	140573844	140573844	+	Silent	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	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		2	0		87	23	NM_018930	0	0	0	0	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	
PCDHB10	56126	broad.mit.edu	37	5	140574170	140574175	+	In_Frame_Del	DEL	AGGCCG	AGGCCG	-	rs58244182|rs140613424|rs140393827	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:140574170_140574175delAGGCCG	ENST00000239446.4	+	1	2229_2234	c.2045_2050delAGGCCG	c.(2044-2052)caggccgag>cag	p.AE683del		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	683					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)			GCCCAGGCCCAGGCCGAGGCCGACTT	0.704														2124	0.424121	0.4372	0.4971	5008	,	,		11585	0.5347		0.3658	False		,,,				2504	0.3006				p.682_684del		.											.	PCDHB10-92	0			c.2045_2050del						.			851,2755		246,359,1198						2.2	0.0		dbSNP_129	38	1442,5672		362,718,2477	no	coding	PCDHB10	NM_018930.3		608,1077,3675	A1A1,A1R,RR		20.2699,23.5996,21.3899				2293,8427				SO:0001651	inframe_deletion	56126	exon1			AGGCCCAGGCCGA	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.2045_2050delAGGCCG	5.37:g.140574176_140574181delAGGCCG	ENSP00000239446:p.Ala683_Glu684del	9	0		93	15	NM_018930	0	0	0	0	0	Q96T99	In_Frame_Del	DEL	ENST00000239446.4	37	CCDS4252.1																																																																																			-|0.750;GGCCGA|0.250		0.704	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PCDHB13	56123	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140594583	140594583	+	Silent	SNP	T	T	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:140594583T>C	ENST00000341948.4	+	1	1075	c.888T>C	c.(886-888)aaT>aaC	p.N296N		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	296	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAAGATCAATCCCTTGACAG	0.403																																					p.N296N		.											.	PCDHB13-93	0			c.T888C						.						96.0	100.0	98.0					5																	140594583		2203	4300	6503	SO:0001819	synonymous_variant	56123	exon1			GATCAATCCCTTG	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.888T>C	5.37:g.140594583T>C		228	1		194	48	NM_018933	0	0	0	0	0	A8K9V6	Silent	SNP	ENST00000341948.4	37	CCDS4255.1																																																																																			.		0.403	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933	
PCDHGA8	9708	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	5	140774156	140774156	+	Silent	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:140774156G>A	ENST00000398604.2	+	1	1776	c.1776G>A	c.(1774-1776)gtG>gtA	p.V592V	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	592	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGGTGGTGGCGGTGGACA	0.697																																					p.V592V		.											.	.	0			c.G1776A						.						45.0	53.0	50.0					5																	140774156		2201	4298	6499	SO:0001819	synonymous_variant	9708	exon1			GGTGGTGGCGGTG	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1776G>A	5.37:g.140774156G>A		84	0		353	64	NM_014004	0	0	0	0	0	A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	CCDS47291.1																																																																																			.		0.697	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088	
PCDHGB7	56099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140799544	140799544	+	Silent	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:140799544G>A	ENST00000398594.2	+	1	2118	c.2118G>A	c.(2116-2118)gcG>gcA	p.A706A	PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	706					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCCTCGCGGTGATTCTAG	0.552																																					p.A706A		.											.	PCDHGB7-29	0			c.G2118A						.						100.0	105.0	103.0					5																	140799544		2159	4254	6413	SO:0001819	synonymous_variant	56099	exon1			CCTCGCGGTGATT	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.2118G>A	5.37:g.140799544G>A		142	0		202	32	NM_018927	0	0	0	0	0	Q9UN63	Silent	SNP	ENST00000398594.2	37	CCDS47293.1																																																																																			.		0.552	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927	
KCTD16	57528	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	143853595	143853595	+	Missense_Mutation	SNP	T	T	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:143853595T>C	ENST00000507359.3	+	3	2296	c.1205T>C	c.(1204-1206)tTc>tCc	p.F402S	KCTD16_ENST00000512467.1_Missense_Mutation_p.F402S	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	402					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATCCAGGATTTCCTAAAAATC	0.433																																					p.F402S		.											.	KCTD16-137	0			c.T1205C						.						58.0	68.0	65.0					5																	143853595		2198	4299	6497	SO:0001583	missense	57528	exon4			AGGATTTCCTAAA	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.1205T>C	5.37:g.143853595T>C	ENSP00000426548:p.Phe402Ser	133	0		118	8	NM_020768	0	0	0	0	0	Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437932	0.83885	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.52754	0.65;0.65	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	L	0.36672	1.1	0.53688	D	0.999976	D	0.65815	0.995	P	0.56163	0.793	T	0.57642	-0.7776	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	402	Q68DU8	KCD16_HUMAN	S	402	ENSP00000424151:F402S;ENSP00000426548:F402S	ENSP00000426548:F402S	F	+	2	0	KCTD16	143833788	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.608000	0.82898	2.371000	0.80710	0.533000	0.62120	TTC	.		0.433	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368	
FBXO38	81545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	147820759	147820759	+	Missense_Mutation	SNP	C	C	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:147820759C>G	ENST00000340253.5	+	21	3515	c.3347C>G	c.(3346-3348)cCc>cGc	p.P1116R	FBXO38_ENST00000296701.6_Missense_Mutation_p.P871R|FBXO38_ENST00000513826.1_Missense_Mutation_p.P871R|FBXO38_ENST00000394370.3_Missense_Mutation_p.P1041R			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1116					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCAGAGCCCAACAGCTTC	0.413																																					p.P1041R		.											.	FBXO38-231	0			c.C3122G						.						228.0	189.0	202.0					5																	147820759		2203	4300	6503	SO:0001583	missense	81545	exon21			CAGAGCCCAACAG	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.3347C>G	5.37:g.147820759C>G	ENSP00000342023:p.Pro1116Arg	131	0		133	18	NM_030793	0	0	0	0	0	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37		.	.	.	.	.	.	.	.	.	.	C	25.1	4.604465	0.87157	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.39592	1.07;1.11;1.07;1.11	5.51	5.51	0.81932	.	0.046072	0.85682	D	0.000000	T	0.56202	0.1969	L	0.32530	0.975	0.39964	D	0.974702	P;D;D	0.89917	0.95;1.0;0.996	P;D;D	0.85130	0.605;0.997;0.931	T	0.59204	-0.7498	10	0.72032	D	0.01	-10.4717	18.3358	0.90287	0.0:1.0:0.0:0.0	.	871;1041;1116	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	R	1116;871;1041;871	ENSP00000342023:P1116R;ENSP00000296701:P871R;ENSP00000377895:P1041R;ENSP00000426410:P871R	ENSP00000296701:P871R	P	+	2	0	FBXO38	147800952	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.376000	0.79658	2.750000	0.94351	0.591000	0.81541	CCC	.		0.413	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793	
ARL10	285598	hgsc.bcm.edu	37	5	175792605	175792605	+	Silent	SNP	G	G	C	rs2303667	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	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		6	6	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	
UNC5A	90249	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	176305481	176305481	+	Missense_Mutation	SNP	C	C	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:176305481C>G	ENST00000329542.4	+	13	2299	c.2025C>G	c.(2023-2025)atC>atG	p.I675M	UNC5A_ENST00000261961.3_Missense_Mutation_p.I635M	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	675					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCAGGAGATCCCCTTTTATC	0.607																																					p.I675M		.											.	UNC5A-91	0			c.C2025G						.						93.0	85.0	88.0					5																	176305481		2203	4300	6503	SO:0001583	missense	90249	exon13			GGAGATCCCCTTT	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.2025C>G	5.37:g.176305481C>G	ENSP00000332737:p.Ile675Met	201	0		377	57	NM_133369	0	0	0	0	0	B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087652	0.55968	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.61040	0.14;0.46	5.41	2.3	0.28687	.	0.000000	0.85682	D	0.000000	T	0.68668	0.3026	M	0.82517	2.595	0.41919	D	0.990501	D	0.69078	0.997	P	0.60789	0.879	T	0.66436	-0.5924	10	0.87932	D	0	-42.2542	4.1772	0.10358	0.1556:0.5582:0.0:0.2862	.	675	Q6ZN44	UNC5A_HUMAN	M	675;635	ENSP00000332737:I675M;ENSP00000261961:I635M	ENSP00000261961:I635M	I	+	3	3	UNC5A	176238087	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	0.675000	0.25232	0.131000	0.18576	0.491000	0.48974	ATC	.		0.607	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300	
DBN1	1627	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	176885468	176885468	+	Missense_Mutation	SNP	T	T	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:176885468T>G	ENST00000309007.5	-	12	1586	c.1367A>C	c.(1366-1368)gAc>gCc	p.D456A	DBN1_ENST00000292385.5_Missense_Mutation_p.D458A|DBN1_ENST00000393563.4_Missense_Mutation_p.D188A|DBN1_ENST00000512501.1_Missense_Mutation_p.D188A|DBN1_ENST00000393565.1_Missense_Mutation_p.D502A	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	456					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTGGCAGTGTCAGTTTCAAT	0.617																																					p.D458A		.											.	DBN1-587	0			c.A1373C						.						147.0	168.0	161.0					5																	176885468		2203	4300	6503	SO:0001583	missense	1627	exon13			GCAGTGTCAGTTT		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1367A>C	5.37:g.176885468T>G	ENSP00000308532:p.Asp456Ala	292	3		688	135	NM_080881	0	0	0	0	0	A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	T	0.143	-1.100211	0.01843	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000512501;ENST00000393563	T;T;T;T;T	0.30448	1.56;1.55;1.57;1.53;1.58	4.24	-2.6	0.06190	.	2.701610	0.01862	N	0.036691	T	0.15652	0.0377	N	0.08118	0	0.09310	N	0.999998	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.0;0.001	T	0.18398	-1.0338	10	0.35671	T	0.21	-11.0899	5.588	0.17285	0.0:0.2453:0.493:0.2617	.	406;502;456;458	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	A	456;458;502;188;188	ENSP00000308532:D456A;ENSP00000292385:D458A;ENSP00000377195:D502A;ENSP00000423208:D188A;ENSP00000377193:D188A	ENSP00000292385:D458A	D	-	2	0	DBN1	176818074	0.000000	0.05858	0.198000	0.23420	0.036000	0.12997	-0.188000	0.09642	-0.290000	0.09025	-0.865000	0.03005	GAC	.		0.617	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881	
DBN1	1627	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	176894041	176894041	+	Missense_Mutation	SNP	T	T	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:176894041T>G	ENST00000309007.5	-	7	797	c.578A>C	c.(577-579)gAg>gCg	p.E193A	DBN1_ENST00000292385.5_Missense_Mutation_p.E195A|DBN1_ENST00000393565.1_Missense_Mutation_p.E193A	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	193					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGCTCCTCCTCCTTCCGCAG	0.677																																					p.E195A		.											.	DBN1-587	0			c.A584C						.						67.0	72.0	70.0					5																	176894041		2203	4300	6503	SO:0001583	missense	1627	exon8			TCCTCCTCCTTCC		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.578A>C	5.37:g.176894041T>G	ENSP00000308532:p.Glu193Ala	34	0		95	8	NM_080881	0	0	0	0	0	A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925710	0.73213	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391	T;T;T	0.43688	0.94;0.94;1.66	4.99	4.99	0.66335	.	0.053586	0.64402	D	0.000001	T	0.51261	0.1664	L	0.28192	0.835	0.80722	D	1	D;D;P;D	0.89917	1.0;0.961;0.951;0.971	D;P;P;P	0.85130	0.997;0.696;0.525;0.79	T	0.53697	-0.8402	10	0.52906	T	0.07	-20.8442	14.5249	0.67881	0.0:0.0:0.0:1.0	.	143;193;193;195	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	A	193;195;193;192	ENSP00000308532:E193A;ENSP00000292385:E195A;ENSP00000377195:E193A	ENSP00000292385:E195A	E	-	2	0	DBN1	176826647	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.161000	0.50747	2.091000	0.63221	0.533000	0.62120	GAG	.		0.677	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881	
FOXQ1	94234	hgsc.bcm.edu	37	6	1313117	1313117	+	Missense_Mutation	SNP	A	A	C	rs9502889	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:1313117A>C	ENST00000296839.2	+	1	443	c.178A>C	c.(178-180)Acg>Ccg	p.T60P		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	60	Ala/Gly-rich.		T -> P (in dbSNP:rs9502889). {ECO:0000269|PubMed:11747606, ECO:0000269|PubMed:15489334}.		hair follicle morphogenesis (GO:0031069)|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)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		cgccagagatacgcagggcga	0.781													C|||	4155	0.829673	0.8268	0.817	5008	,	,		7725	0.6478		0.9811	False		,,,				2504	0.8742				p.T60P		.											.	FOXQ1-226	0			c.A178C						.	C	PRO/THR	1459,205		630,199,3	1.0	2.0	2.0		178	2.0	0.0	6	dbSNP_119	2	3448,86		1681,86,0	no	missense	FOXQ1	NM_033260.3	38	2311,285,3	CC,CA,AA		2.4335,12.3197,5.5983	benign	60/404	1313117	4907,291	832	1767	2599	SO:0001583	missense	94234	exon1			AGAGATACGCAGG	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.178A>C	6.37:g.1313117A>C	ENSP00000296839:p.Thr60Pro	0	0		7	7	NM_033260	0	0	0	0	0	Q9NS06	Missense_Mutation	SNP	ENST00000296839.2	37	CCDS4471.1	1832	0.8388278388278388	418	0.8495934959349594	299	0.8259668508287292	378	0.6608391608391608	737	0.9722955145118733	C	2.302	-0.359998	0.05103	0.876803	0.975665	ENSG00000164379	ENST00000296839	T	0.42513	0.97	2.88	1.96	0.26148	.	1.166200	0.06867	N	0.800158	T	0.07143	0.0181	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	9	0.30078	T	0.28	.	2.761	0.05306	0.229:0.5157:0.0:0.2553	rs9502889;rs17857429	60	Q9C009	FOXQ1_HUMAN	P	60	ENSP00000296839:T60P	ENSP00000296839:T60P	T	+	1	0	FOXQ1	1258117	0.000000	0.05858	0.011000	0.14972	0.029000	0.11900	-0.022000	0.12480	0.431000	0.26258	-0.506000	0.04501	ACG	A|0.161;C|0.839		0.781	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260	
FOXQ1	94234	hgsc.bcm.edu	37	6	1313121	1313121	+	Missense_Mutation	SNP	A	A	C	rs9502890	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:1313121A>C	ENST00000296839.2	+	1	447	c.182A>C	c.(181-183)cAg>cCg	p.Q61P		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	61	Ala/Gly-rich.		Q -> P (in dbSNP:rs9502890). {ECO:0000269|PubMed:11747606, ECO:0000269|PubMed:15489334}.		hair follicle morphogenesis (GO:0031069)|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)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		agagatacgcagggcgacggc	0.786													C|||	4155	0.829673	0.8268	0.817	5008	,	,		7820	0.6478		0.9811	False		,,,				2504	0.8742				p.Q61P		.											.	FOXQ1-226	0			c.A182C						.	C	PRO/GLN	1291,195		553,185,5	1.0	2.0	1.0		182	-6.0	0.0	6	dbSNP_119	1	3133,85		1524,85,0	no	missense	FOXQ1	NM_033260.3	76	2077,270,5	CC,CA,AA		2.6414,13.1225,5.9524	benign	61/404	1313121	4424,280	743	1609	2352	SO:0001583	missense	94234	exon1			ATACGCAGGGCGA	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.182A>C	6.37:g.1313121A>C	ENSP00000296839:p.Gln61Pro	0	0		7	7	NM_033260	0	0	0	0	0	Q9NS06	Missense_Mutation	SNP	ENST00000296839.2	37	CCDS4471.1	1806	0.8269230769230769	387	0.7865853658536586	298	0.8232044198895028	383	0.6695804195804196	738	0.9736147757255936	C	1.298	-0.605630	0.03717	0.868775	0.973586	ENSG00000164379	ENST00000296839	T	0.41758	0.99	3.01	-6.03	0.02185	.	5.999610	0.01694	N	0.026822	T	0.05502	0.0145	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.06552	-1.0820	9	0.30078	T	0.28	.	2.125	0.03736	0.2444:0.1884:0.4343:0.1329	rs9502890;rs17857430	61	Q9C009	FOXQ1_HUMAN	P	61	ENSP00000296839:Q61P	ENSP00000296839:Q61P	Q	+	2	0	FOXQ1	1258121	0.018000	0.18449	0.000000	0.03702	0.006000	0.05464	-0.174000	0.09839	-1.850000	0.01169	-1.043000	0.02367	CAG	A|0.173;C|0.827		0.786	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260	
PPP1R3G	648791	hgsc.bcm.edu	37	6	5086211	5086211	+	Silent	SNP	G	G	C	rs584962		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:5086211G>C	ENST00000405617.2	+	1	492	c.492G>C	c.(490-492)ctG>ctC	p.L164L		NM_001145115.1	NP_001138587.1	B7ZBB8	PP13G_HUMAN	protein phosphatase 1, regulatory subunit 3G	164					glucose homeostasis (GO:0042593)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)	cytoplasm (GO:0005737)	glycogen binding (GO:2001069)			kidney(2)	2						TCTCGCGCCTGCGAAGCTTCC	0.736													C|||	5008	1.0	1.0	1.0	5008	,	,		12118	1.0		1.0	False		,,,				2504	1.0				p.L164L		.											.	PPP1R3G-136	0			c.G492C						.						1.0	2.0	1.0					6																	5086211		271	872	1143	SO:0001819	synonymous_variant	648791	exon1			GCGCCTGCGAAGC		CCDS47366.1	6p25.1	2012-04-17	2011-10-04		ENSG00000219607	ENSG00000219607		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14945	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3G"""			11948623	Standard	NM_001145115		Approved		uc011dia.1	B7ZBB8	OTTHUMG00000014172	ENST00000405617.2:c.492G>C	6.37:g.5086211G>C		0	0		5	5	NM_001145115	0	0	0	0	0		Silent	SNP	ENST00000405617.2	37	CCDS47366.1																																																																																			G|0.000;C|1.000		0.736	PPP1R3G-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039740.3	NM_001145115	
GPANK1	7918	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	31630170	31630170	+	Missense_Mutation	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:31630170C>T	ENST00000375906.1	-	4	1628	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	Y_RNA_ENST00000364337.1_RNA|CSNK2B_ENST00000375885.4_5'Flank|C6orf47_ENST00000375911.1_5'Flank|GPANK1_ENST00000375893.2_Missense_Mutation_p.R315Q|C6orf47-AS1_ENST00000422049.1_RNA|GPANK1_ENST00000375900.4_Missense_Mutation_p.R315Q|GPANK1_ENST00000375895.2_Missense_Mutation_p.R315Q|GPANK1_ENST00000375896.4_Missense_Mutation_p.R315Q	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	315							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						AGCCACAGCTCGGGTATCCCA	0.617																																					p.R315Q		.											.	GPANK1-91	0			c.G944A						.						87.0	89.0	88.0					6																	31630170		1510	2709	4219	SO:0001583	missense	7918	exon4			ACAGCTCGGGTAT		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"""Ankyrin repeat domain containing"", ""G patch domain containing"""	13920	protein-coding gene	gene with protein product	"""G patch domain containing 10"", ""ankyrin repeat domain 59"""	142610	"""HLA-B associated transcript 4"""	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.944G>A	6.37:g.31630170C>T	ENSP00000365071:p.Arg315Gln	92	0		210	32	NM_001199238	0	0	0	0	0	A6NG25|B0UXA2|Q5SQ49	Missense_Mutation	SNP	ENST00000375906.1	37	CCDS4711.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810720	0.50421	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	5.0	4.13	0.48395	.	0.471361	0.21390	N	0.075326	T	0.02688	0.0081	L	0.50919	1.6	0.30408	N	0.779341	B	0.16166	0.016	B	0.06405	0.002	T	0.35375	-0.9791	10	0.33141	T	0.24	-7.7347	6.416	0.21717	0.1792:0.7292:0.0:0.0916	.	315	O95872	GPAN1_HUMAN	Q	315	ENSP00000365071:R315Q;ENSP00000365060:R315Q;ENSP00000365057:R315Q;ENSP00000365059:R315Q;ENSP00000365065:R315Q	ENSP00000365057:R315Q	R	-	2	0	GPANK1	31738149	0.532000	0.26346	1.000000	0.80357	0.586000	0.36452	1.195000	0.32186	1.333000	0.45449	-0.150000	0.13652	CGA	.		0.617	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177	
STK19	8859	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	31940267	31940267	+	Missense_Mutation	SNP	G	G	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:31940267G>C	ENST00000375333.2	+	2	462	c.409G>C	c.(409-411)Gat>Cat	p.D137H	DXO_ENST00000375356.3_5'Flank|DXO_ENST00000375349.3_5'Flank|STK19_ENST00000463823.1_3'UTR|DXO_ENST00000337523.5_5'Flank|DXO_ENST00000478221.1_5'Flank|STK19_ENST00000375331.2_Missense_Mutation_p.D137H	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	137					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						TGTGGAGTCGGATCCTCTTCG	0.612																																					p.D137H		.											.	STK19-336	0			c.G409C						.						44.0	57.0	52.0					6																	31940267		1510	2709	4219	SO:0001583	missense	8859	exon2			GAGTCGGATCCTC	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.409G>C	6.37:g.31940267G>C	ENSP00000364482:p.Asp137His	44	0		38	8	NM_032454	0	0	0	0	0	A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Missense_Mutation	SNP	ENST00000375333.2	37	CCDS4733.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774121	0.49786	.	.	ENSG00000204344	ENST00000375331;ENST00000375333	T;T	0.29917	1.55;1.56	4.51	3.64	0.41730	.	0.823268	0.11138	N	0.595623	T	0.28200	0.0696	L	0.29908	0.895	0.40378	D	0.97941	D;D;D;D;D	0.89917	0.977;1.0;0.995;0.977;0.976	P;D;D;P;P	0.73380	0.62;0.98;0.912;0.62;0.556	T	0.06570	-1.0819	10	0.59425	D	0.04	-8.5563	8.4493	0.32860	0.107:0.0:0.893:0.0	.	94;137;137;137;94	C9IZ87;B4E0M4;P49842-2;P49842;B7ZLI8	.;.;.;STK19_HUMAN;.	H	137	ENSP00000364480:D137H;ENSP00000364482:D137H	ENSP00000364480:D137H	D	+	1	0	STK19	32048246	0.261000	0.24063	0.872000	0.34217	0.088000	0.18126	2.838000	0.48199	1.257000	0.44085	0.655000	0.94253	GAT	.		0.612	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3		
ITPR3	3710	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	33651116	33651116	+	Missense_Mutation	SNP	C	C	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:33651116C>G	ENST00000374316.5	+	36	5790	c.4730C>G	c.(4729-4731)cCc>cGc	p.P1577R	ITPR3_ENST00000605930.1_Missense_Mutation_p.P1577R			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1577					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CGGGCCTTCCCCCGCGTCACC	0.647																																					p.P1577R		.											.	ITPR3-1085	0			c.C4730G						.						23.0	19.0	20.0					6																	33651116		2196	4296	6492	SO:0001583	missense	3710	exon35			CCTTCCCCCGCGT	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.4730C>G	6.37:g.33651116C>G	ENSP00000363435:p.Pro1577Arg	132	1		226	64	NM_002224	0	0	0	0	0	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092409	0.55968	.	.	ENSG00000096433	ENST00000374316	T	0.62232	0.04	4.71	4.71	0.59529	.	0.000000	0.56097	D	0.000028	T	0.48857	0.1523	L	0.36672	1.1	0.49051	D	0.999742	P	0.52577	0.954	P	0.55577	0.779	T	0.53809	-0.8386	10	0.02654	T	1	-31.3777	17.6627	0.88196	0.0:1.0:0.0:0.0	.	1577	Q14573	ITPR3_HUMAN	R	1577	ENSP00000363435:P1577R	ENSP00000363435:P1577R	P	+	2	0	ITPR3	33759094	0.727000	0.28069	0.991000	0.47740	0.869000	0.49853	2.019000	0.41001	2.173000	0.68751	0.561000	0.74099	CCC	.		0.647	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
PEX6	5190	hgsc.bcm.edu	37	6	42946490	42946490	+	Silent	SNP	C	C	A	rs9462858	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:42946490C>A	ENST00000304611.8	-	1	468	c.399G>T	c.(397-399)gtG>gtT	p.V133V	PEX6_ENST00000244546.4_Silent_p.V133V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	133					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GCGGTCCGGGCACTGGGAGGG	0.746													C|||	1662	0.331869	0.3691	0.3516	5008	,	,		10923	0.1002		0.4612	False		,,,				2504	0.3732				p.V133V		.											.	PEX6-91	0			c.G399T						.	C		1002,2080		214,574,753	2.0	3.0	3.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	399	2.1	0.9	6	dbSNP_119	3	2653,4001		636,1381,1310	no	coding-synonymous	PEX6	NM_000287.3		850,1955,2063	AA,AC,CC		39.8708,32.5114,37.5411		133/981	42946490	3655,6081	1541	3327	4868	SO:0001819	synonymous_variant	5190	exon1			TCCGGGCACTGGG	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.399G>T	6.37:g.42946490C>A		0	0		10	6	NM_000287	0	0	0	0	0	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	CCDS4877.1																																																																																			C|0.673;A|0.327		0.746	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287	
CENPQ	55166	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	49456158	49456158	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:49456158G>T	ENST00000335783.3	+	7	665	c.571G>T	c.(571-573)Gaa>Taa	p.E191*		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	191					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					AAGTGAGGTGGAAGAAGAAGA	0.323																																					p.E191X		.											.	CENPQ-92	0			c.G571T						.						67.0	70.0	69.0					6																	49456158		2203	4298	6501	SO:0001587	stop_gained	55166	exon7			GAGGTGGAAGAAG	AK001407	CCDS4925.1	6p12.3	2013-11-05	2006-06-15	2006-06-15	ENSG00000031691	ENSG00000031691			21347	protein-coding gene	gene with protein product		611506	"""chromosome 6 open reading frame 139"""	C6orf139		16622420, 16622419	Standard	NM_018132		Approved	FLJ10545, CENP-Q	uc003ozh.1	Q7L2Z9	OTTHUMG00000014815	ENST00000335783.3:c.571G>T	6.37:g.49456158G>T	ENSP00000337289:p.Glu191*	228	0		176	31	NM_018132	0	0	0	0	0	A8KAF1|Q6IN61|Q9NVS5	Nonsense_Mutation	SNP	ENST00000335783.3	37	CCDS4925.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210122	0.39003	.	.	ENSG00000031691	ENST00000335783;ENST00000371200	.	.	.	5.73	3.0	0.34707	.	0.111657	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-6.2358	6.2777	0.20989	0.1636:0.1519:0.6846:0.0	.	.	.	.	X	191	.	ENSP00000337289:E191X	E	+	1	0	CENPQ	49564117	1.000000	0.71417	0.531000	0.27976	0.084000	0.17831	3.392000	0.52537	0.453000	0.26858	-0.147000	0.13772	GAA	.		0.323	CENPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040855.2	NM_018132	
DST	667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	56391195	56391195	+	Silent	SNP	C	C	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:56391195C>A	ENST00000361203.3	-	64	17140	c.17133G>T	c.(17131-17133)gtG>gtT	p.V5711V	DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.V3625V|DST_ENST00000370754.5_Silent_p.V6000V|DST_ENST00000421834.2_Silent_p.V3734V|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Silent_p.V5496V|DST_ENST00000370769.4_Silent_p.V5822V|DST_ENST00000244364.6_Silent_p.V3408V			Q03001	DYST_HUMAN	dystonin	5711					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGATCTCCTCCACCTTCTGAG	0.473																																					p.V3408V		.											.	DST-523	0			c.G10224T						.						194.0	177.0	183.0					6																	56391195		1988	4175	6163	SO:0001819	synonymous_variant	667	exon50			CTCCTCCACCTTC	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.17133G>T	6.37:g.56391195C>A		162	0		149	38	NM_015548	0	0	0	0	0	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37																																																																																				.		0.473	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
PHF3	23469	broad.mit.edu	37	6	64422984	64422984	+	Missense_Mutation	SNP	C	C	T	rs3734881	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:64422984C>T	ENST00000262043.3	+	16	5840	c.5500C>T	c.(5500-5502)Cat>Tat	p.H1834Y	PHF3_ENST00000393387.1_Missense_Mutation_p.H1834Y			Q92576	PHF3_HUMAN	PHD finger protein 3	1834	Pro-rich.		H -> Y (in dbSNP:rs3734881).		multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATTTCCACCACATTTGCCACC	0.527													C|||	14	0.00279553	0.0	0.0	5008	,	,		16983	0.0129		0.0	False		,,,				2504	0.001				p.H1834Y	GBM(135;136 1820 29512 34071 46235)	.											.	PHF3-229	0			c.C5500T						.						147.0	153.0	151.0					6																	64422984		2203	4300	6503	SO:0001583	missense	23469	exon15			CCACCACATTTGC	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5500C>T	6.37:g.64422984C>T	ENSP00000262043:p.His1834Tyr	43	0		26	3	NM_015153	0	0	0	0	0	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	C	11.47	1.649003	0.29336	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.21543	2.0;2.0	5.97	5.11	0.69529	.	0.000000	0.40728	N	0.001030	T	0.07279	0.0184	L	0.29908	0.895	0.43095	D	0.994777	B	0.22851	0.076	B	0.18263	0.021	T	0.12578	-1.0542	9	.	.	.	-11.9825	15.3109	0.74031	0.0:0.9331:0.0:0.0669	rs3734881;rs52827350;rs3734881	1834	Q92576	PHF3_HUMAN	Y	1834	ENSP00000262043:H1834Y;ENSP00000377048:H1834Y	.	H	+	1	0	PHF3	64480943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.236000	0.51336	1.539000	0.49286	0.655000	0.94253	CAT	C|0.995;T|0.005		0.527	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		
RAET1G	353091	bcgsc.ca	37	6	150240829	150240829	+	Missense_Mutation	SNP	G	G	C	rs9397449	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:150240829G>C	ENST00000367360.2	-	2	276	c.209C>G	c.(208-210)aCa>aGa	p.T70R	RAET1E-AS1_ENST00000446954.2_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.T70R|RAET1E-AS1_ENST00000605899.1_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		GGGTGTGACTGTCTTGCTGCC	0.517													g|||	1132	0.226038	0.1021	0.111	5008	,	,		20972	0.5317		0.1501	False		,,,				2504	0.2382				p.T70R		.											.	RAET1G-90	0			c.C209G						.	C	ARG/THR	492,3914	780.8+/-414.5	27,438,1738	278.0	261.0	267.0		209	-2.0	0.0	6	dbSNP_119	267	1130,7470	767.0+/-407.6	83,964,3253	no	missense	RAET1G	NM_001001788.2	71	110,1402,4991	CC,CG,GG		13.1395,11.1666,12.4712	benign	70/335	150240829	1622,11384	2203	4300	6503	SO:0001583	missense	353091	exon2			GTGACTGTCTTGC	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.209C>G	6.37:g.150240829G>C	ENSP00000356329:p.Thr70Arg	593	7		604	16	NM_001001788	0	0	0	0	0		Missense_Mutation	SNP	ENST00000367360.2	37	CCDS43514.1	503	0.2303113553113553	47	0.09552845528455285	46	0.1270718232044199	308	0.5384615384615384	102	0.1345646437994723	C	2.358	-0.347240	0.05208	0.111666	0.131395	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.00626	6.13;6.13	2.4	-2.05	0.07321	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00144	0.0004	L	0.29908	0.895	0.80722	P	0.0	B	0.21688	0.059	B	0.26094	0.066	T	0.43540	-0.9385	8	0.02654	T	1	.	0.992	0.01459	0.1668:0.1581:0.398:0.2771	rs9397449;rs60358512;rs9397449	70	Q6H3X3	RET1G_HUMAN	R	70	ENSP00000356329:T70R;ENSP00000417503:T70R	ENSP00000356329:T70R	T	-	2	0	RAET1G	150282522	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.137000	0.01304	-0.955000	0.03636	-3.292000	0.00046	ACA	G|0.807;C|0.193		0.517	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2		
SYTL3	94120	bcgsc.ca	37	6	159178345	159178345	+	Missense_Mutation	SNP	C	C	T	rs901363	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:159178345C>T	ENST00000297239.9	+	13	1434	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	SYTL3_ENST00000360448.3_Missense_Mutation_p.P346S|SYTL3_ENST00000367081.3_Missense_Mutation_p.P140S			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	414			P -> S (in dbSNP:rs901363).		exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		AGTGATCATTCCTCTGGCCAC	0.612													C|||	2249	0.449081	0.2753	0.598	5008	,	,		14777	0.7361		0.328	False		,,,				2504	0.407				p.P414S		.											.	SYTL3-90	0			c.C1240T						.	C	SER/PRO,SER/PRO,SER/PRO,SER/PRO	1241,3165	429.1+/-342.1	182,877,1144	92.0	78.0	83.0		1036,1240,1240,1036	5.1	1.0	6	dbSNP_86	83	2893,5707	452.8+/-363.1	496,1901,1903	yes	missense,missense,missense,missense	SYTL3	NM_001009991.3,NM_001242384.1,NM_001242394.1,NM_001242395.1	74,74,74,74	678,2778,3047	TT,TC,CC		33.6395,28.1661,31.7853	probably-damaging,probably-damaging,probably-damaging,probably-damaging	346/543,414/611,414/611,346/543	159178345	4134,8872	2203	4300	6503	SO:0001583	missense	94120	exon15			ATCATTCCTCTGG	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1240C>T	6.37:g.159178345C>T	ENSP00000297239:p.Pro414Ser	105	0		121	7	NM_001242384	0	0	0	0	0	Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	CCDS56458.1	1012	0.4633699633699634	146	0.2967479674796748	188	0.5193370165745856	437	0.763986013986014	241	0.3179419525065963	C	18.21	3.572424	0.65765	0.281661	0.336395	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.08370	3.1;3.1;3.1	5.07	5.07	0.68467	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.06554	0.0168	M	0.74881	2.28	0.20563	P	0.999887067	P;P;P	0.45212	0.791;0.853;0.851	B;B;B	0.42692	0.332;0.288;0.395	T	0.29458	-1.0011	9	0.20519	T	0.43	-17.7371	12.8384	0.57786	0.0:0.9208:0.0:0.0792	rs901363;rs59429263;rs901363	140;414;346	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	S	346;414;414;140	ENSP00000353631:P346S;ENSP00000297239:P414S;ENSP00000356048:P140S	ENSP00000297239:P414S	P	+	1	0	SYTL3	159098333	0.999000	0.42202	0.980000	0.43619	0.951000	0.60555	2.629000	0.46485	2.356000	0.79943	0.491000	0.48974	CCT	C|0.605;T|0.395		0.612	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1		
USP42	84132	hgsc.bcm.edu	37	7	6193521	6193521	+	Missense_Mutation	SNP	G	G	C	rs61729726	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr7:6193521G>C	ENST00000306177.5	+	15	2494	c.2336G>C	c.(2335-2337)cGc>cCc	p.R779P		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	779	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)		CCGCCGCCCCGCGATCCCGGC	0.756													C|||	2895	0.578075	0.8638	0.4121	5008	,	,		10724	0.7331		0.3082	False		,,,				2504	0.4274				p.R779P		.											.	USP42-659	0			c.G2336C						.	C	PRO/ARG	2157,1125		751,655,235	4.0	6.0	5.0		2336	2.6	0.0	7	dbSNP_129	5	1843,5693		290,1263,2215	no	missense	USP42	NM_032172.2	103	1041,1918,2450	CC,CG,GG		24.4559,34.2779,36.9754	benign	779/1317	6193521	4000,6818	1641	3768	5409	SO:0001583	missense	84132	exon15			CGCCCCGCGATCC	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.2336G>C	7.37:g.6193521G>C	ENSP00000301962:p.Arg779Pro	0	0		17	5	NM_032172	0	0	0	0	0	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	CCDS47535.1	1188	0.5439560439560439	401	0.8150406504065041	130	0.35911602209944754	440	0.7692307692307693	217	0.2862796833773087	C	10.95	1.494372	0.26774	0.657221	0.244559	ENSG00000106346	ENST00000306177;ENST00000426246	T;T	0.14266	2.52;2.93	5.46	2.59	0.31030	.	0.841331	0.10600	N	0.655737	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09164	-1.0687	9	0.28530	T	0.3	.	2.8136	0.05448	0.1458:0.5508:0.1414:0.162	rs61729726	779;779	Q9H9J4-2;Q9H9J4	.;UBP42_HUMAN	P	779;625	ENSP00000301962:R779P;ENSP00000408217:R625P	ENSP00000301962:R779P	R	+	2	0	USP42	6160046	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.469000	0.22067	0.265000	0.21872	-0.120000	0.15030	CGC	G|0.456;C|0.544		0.756	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526	
GARS	2617	hgsc.bcm.edu	37	7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	rs1049402	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000580440.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5.0	8.0	7.0		124	-6.6	0.0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	0	0		19	19	NM_002047	0	0	0	0	0	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047	
ANLN	54443	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	36436004	36436006	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	CAG	CAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr7:36436004_36436006delCAG	ENST00000265748.2	+	2	369_371	c.148_150delCAG	c.(148-150)cagdel	p.Q51del	ANLN_ENST00000396068.2_In_Frame_Del_p.Q51del	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	51	Interaction with CD2AP.|Nuclear localization.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGCAAGTAACCAGCAGCCCCTCT	0.438																																					p.50_50del		.											.	ANLN-517	0			c.148_150del						.																																			SO:0001651	inframe_deletion	54443	exon2			AGTAACCAGCAGC	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.148_150delCAG	7.37:g.36436007_36436009delCAG	ENSP00000265748:p.Gln51del	142	0		103	25	NM_018685	0	0	0	0	0	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	In_Frame_Del	DEL	ENST00000265748.2	37	CCDS5447.1																																																																																			.		0.438	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685	
GLI3	2737	broad.mit.edu;bcgsc.ca	37	7	42005406	42005406	+	Missense_Mutation	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr7:42005406C>T	ENST00000395925.3	-	15	3349	c.3265G>A	c.(3265-3267)Gag>Aag	p.E1089K	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1089					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGGAAATCCTCATCGTTCAGG	0.587									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.E1089K		.											.	GLI3-1149	0			c.G3265A						.						84.0	84.0	84.0					7																	42005406		2203	4300	6503	SO:0001583	missense	2737	exon15	Familial Cancer Database	;	AATCCTCATCGTT		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3265G>A	7.37:g.42005406C>T	ENSP00000379258:p.Glu1089Lys	215	0		307	11	NM_000168	0	0	0	0	0	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997459	0.93227	.	.	ENSG00000106571	ENST00000395925	T	0.15139	2.45	5.17	5.17	0.71159	.	0.139892	0.64402	D	0.000004	T	0.19604	0.0471	N	0.22421	0.69	0.80722	D	1	P	0.50943	0.94	P	0.49752	0.621	T	0.02275	-1.1184	10	0.24483	T	0.36	.	19.0412	0.93000	0.0:1.0:0.0:0.0	.	1089	P10071	GLI3_HUMAN	K	1089	ENSP00000379258:E1089K	ENSP00000379258:E1089K	E	-	1	0	GLI3	41971931	1.000000	0.71417	0.991000	0.47740	0.841000	0.47740	5.902000	0.69869	2.561000	0.86390	0.563000	0.77884	GAG	.		0.587	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
GLI3	2737	hgsc.bcm.edu	37	7	42005678	42005678	+	Missense_Mutation	SNP	G	G	A	rs929387	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr7:42005678G>A	ENST00000395925.3	-	15	3077	c.2993C>T	c.(2992-2994)cCg>cTg	p.P998L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	998			P -> L (in dbSNP:rs929387). {ECO:0000269|PubMed:10441342, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2118997}.		anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCCGTGGCCCGGCGCATCGTG	0.746									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				G|||	2111	0.421526	0.1619	0.4424	5008	,	,		11700	0.7688		0.3161	False		,,,				2504	0.5082				p.P998L		.											.	GLI3-1149	0			c.C2993T						.	G	LEU/PRO	654,2960		69,516,1222	4.0	5.0	5.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2993	3.8	0.2	7	dbSNP_86	5	2170,5232		331,1508,1862	no	missense	GLI3	NM_000168.5	98	400,2024,3084	AA,AG,GG		29.3164,18.0963,25.6354	benign	998/1581	42005678	2824,8192	1807	3701	5508	SO:0001583	missense	2737	exon15	Familial Cancer Database	;	TGGCCCGGCGCAT		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2993C>T	7.37:g.42005678G>A	ENSP00000379258:p.Pro998Leu	0	0		5	4	NM_000168	0	0	0	0	0	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	917	0.4198717948717949	75	0.1524390243902439	153	0.42265193370165743	451	0.7884615384615384	238	0.31398416886543534	G	1.729	-0.494582	0.04322	0.180963	0.293164	ENSG00000106571	ENST00000395925	T	0.15256	2.44	4.98	3.83	0.44106	.	0.327528	0.33217	N	0.005158	T	0.00012	0.0000	N	0.05554	-0.025	0.09310	P	0.9999999999224007	B	0.06786	0.001	B	0.04013	0.001	T	0.16247	-1.0409	9	0.17369	T	0.5	.	5.4162	0.16376	0.7624:0.0:0.0842:0.1533	rs929387;rs929387	998	P10071	GLI3_HUMAN	L	998	ENSP00000379258:P998L	ENSP00000379258:P998L	P	-	2	0	GLI3	41972203	1.000000	0.71417	0.171000	0.22900	0.021000	0.10359	4.758000	0.62220	0.733000	0.32492	-0.471000	0.05019	CCG	G|0.565;A|0.435		0.746	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
WBSCR22	114049	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	73101340	73101340	+	Missense_Mutation	SNP	G	G	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr7:73101340G>C	ENST00000265758.2	+	5	335	c.277G>C	c.(277-279)Gac>Cac	p.D93H	WBSCR22_ENST00000423166.2_Intron|WBSCR22_ENST00000423497.1_Missense_Mutation_p.D93H	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	93					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGAGGCTGTGGACCGAGAGAT	0.522																																					p.D93H		.											.	WBSCR22-90	0			c.G277C						.						72.0	74.0	73.0					7																	73101340		2203	4300	6503	SO:0001583	missense	114049	exon5			GCTGTGGACCGAG	AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"""metastasis-related methyltransferase 1"""	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.277G>C	7.37:g.73101340G>C	ENSP00000265758:p.Asp93His	61	0		80	4	NM_001202560	0	0	0	0	0	A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Missense_Mutation	SNP	ENST00000265758.2	37	CCDS5557.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948457	0.53186	.	.	ENSG00000071462	ENST00000265758;ENST00000423497	T;T	0.44083	0.93;0.93	4.69	4.69	0.59074	Methyltransferase type 11 (1);	0.213278	0.49916	D	0.000137	T	0.52208	0.1720	L	0.38175	1.15	0.80722	D	1	D;D	0.62365	0.979;0.991	P;D	0.64877	0.873;0.93	T	0.52049	-0.8627	10	0.51188	T	0.08	-13.4174	15.1268	0.72489	0.0:0.0:1.0:0.0	.	93;93	C9K060;O43709	.;WBS22_HUMAN	H	93	ENSP00000265758:D93H;ENSP00000401191:D93H	ENSP00000265758:D93H	D	+	1	0	WBSCR22	72739276	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	7.387000	0.79785	2.432000	0.82394	0.555000	0.69702	GAC	.		0.522	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252303.1		
TFPI2	7980	bcgsc.ca	37	7	93518486	93518486	+	Silent	SNP	C	C	T	rs34489123	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr7:93518486C>T	ENST00000222543.5	-	3	633	c.321G>A	c.(319-321)gaG>gaA	p.E107E	TFPI2_ENST00000545378.1_Intron|AC002076.10_ENST00000435257.1_RNA|GNGT1_ENST00000455502.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	107	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.	Reactive bond. {ECO:0000250}.			blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTGTGGACCCCTCACACTGGT	0.438													C|||	505	0.100839	0.1029	0.1369	5008	,	,		17172	0.1538		0.0358	False		,,,				2504	0.0849				p.E107E		.											.	TFPI2-515	0			c.G321A						.	C		465,3941	201.8+/-224.7	23,419,1761	67.0	78.0	75.0		321	-9.0	0.0	7	dbSNP_126	75	173,8427	74.5+/-137.1	6,161,4133	no	coding-synonymous	TFPI2	NM_006528.2		29,580,5894	TT,TC,CC		2.0116,10.5538,4.9054		107/236	93518486	638,12368	2203	4300	6503	SO:0001819	synonymous_variant	7980	exon3			GGACCCCTCACAC	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.321G>A	7.37:g.93518486C>T		110	0		89	6	NM_006528	0	0	0	0	0	Q66ME8|Q8NAK6|Q9UC86	Silent	SNP	ENST00000222543.5	37	CCDS5632.1																																																																																			C|0.942;T|0.058		0.438	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528	
AP1S1	1174	broad.mit.edu	37	7	100800053	100800053	+	Splice_Site	SNP	G	G	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr7:100800053G>C	ENST00000337619.5	+	2	300	c.182G>C	c.(181-183)aGa>aCa	p.R61T	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	61					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GTCTATAAGAGGTGACTCCCC	0.532																																					p.R61T		.											.	AP1S1-226	0			c.G182C						.						35.0	38.0	37.0					7																	100800053		1966	4145	6111	SO:0001630	splice_region_variant	1174	exon2			ATAAGAGGTGACT	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.182+1G>C	7.37:g.100800053G>C		25	0		29	3	NM_001283	0	0	0	0	0	B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Missense_Mutation	SNP	ENST00000337619.5	37	CCDS47669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.274803|5.274803	0.95459|0.95459	.|.	.|.	ENSG00000106367|ENSG00000106367	ENST00000429457|ENST00000337619	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|Clathrin adaptor complex, small chain (1);Longin-like (1);AP complex, mu/sigma subunit (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86041|0.86041	0.5838|0.5838	M|M	0.92970|0.92970	3.365|3.365	0.80722|0.80722	D|D	1|1	.|D	.|0.64830	.|0.994	.|D	.|0.76575	.|0.988	D|D	0.89017|0.89017	0.3432|0.3432	5|9	.|0.87932	.|D	.|0	-6.393|-6.393	17.0798|17.0798	0.86595|0.86595	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|61	.|P61966	.|AP1S1_HUMAN	H|T	103|61	.|.	.|ENSP00000336666:R61T	D|R	+|+	1|2	0|0	AP1S1|AP1S1	100586773|100586773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.186000|9.186000	0.94906|0.94906	2.696000|2.696000	0.92011|0.92011	0.561000|0.561000	0.74099|0.74099	GAT|AGA	.		0.532	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283	Missense_Mutation
GPR85	54329	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	112724050	112724050	+	Missense_Mutation	SNP	A	A	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr7:112724050A>G	ENST00000297146.3	-	3	1330	c.727T>C	c.(727-729)Tgg>Cgg	p.W243R	GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000449591.1_Missense_Mutation_p.W243R|GPR85_ENST00000424100.1_Missense_Mutation_p.W243R|GPR85_ENST00000501255.2_Missense_Mutation_p.W243R	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	243					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCTGCTAGCCAATTGGCAGCT	0.532																																					p.W243R		.											.	GPR85-91	0			c.T727C						.						80.0	87.0	85.0					7																	112724050		2203	4300	6503	SO:0001583	missense	54329	exon3			CTAGCCAATTGGC	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.727T>C	7.37:g.112724050A>G	ENSP00000297146:p.Trp243Arg	99	0		102	7	NM_001146265	0	0	0	0	0	Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	37	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.502040	0.44455	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.52	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62307	0.2417	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.59332	-0.7474	10	0.14656	T	0.56	.	12.8633	0.57926	0.8639:0.1361:0.0:0.0	.	243	P60893	GPR85_HUMAN	R	243	ENSP00000445808:W243R;ENSP00000297146:W243R;ENSP00000396763:W243R;ENSP00000401178:W243R	ENSP00000297146:W243R	W	-	1	0	GPR85	112511286	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.287000	0.95975	1.001000	0.39076	0.528000	0.53228	TGG	.		0.532	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2		
KCND2	3751	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	119915231	119915231	+	Missense_Mutation	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr7:119915231C>T	ENST00000331113.4	+	1	1510	c.545C>T	c.(544-546)aCg>aTg	p.T182M		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	182					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CACACCAGCACGATGGCCCTG	0.607																																					p.T182M		.											.	KCND2-517	0			c.C545T						.						79.0	76.0	77.0					7																	119915231		2203	4300	6503	SO:0001583	missense	3751	exon1			CCAGCACGATGGC	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.545C>T	7.37:g.119915231C>T	ENSP00000333496:p.Thr182Met	141	0		122	27	NM_012281	0	0	0	0	0	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137012	0.77775	.	.	ENSG00000184408	ENST00000331113	D	0.97430	-4.38	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97483	0.9176	M	0.83312	2.635	0.80722	D	1	D	0.57257	0.979	P	0.47915	0.561	D	0.97468	1.0039	9	.	.	.	.	19.5831	0.95478	0.0:1.0:0.0:0.0	.	182	Q9NZV8	KCND2_HUMAN	M	182	ENSP00000333496:T182M	.	T	+	2	0	KCND2	119702467	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	5.999000	0.70665	2.641000	0.89580	0.563000	0.77884	ACG	.		0.607	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281	
GPR124	25960	broad.mit.edu	37	8	37686785	37686785	+	Silent	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr8:37686785C>T	ENST00000412232.2	+	4	430	c.417C>T	c.(415-417)ctC>ctT	p.L139L	GPR124_ENST00000315215.7_Silent_p.L139L	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	139					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTAGAGATCTCTCCAACAACC	0.597																																					p.L139L		.											.	GPR124-157	0			c.C417T						.						89.0	80.0	83.0					8																	37686785		2203	4300	6503	SO:0001819	synonymous_variant	25960	exon4			AGATCTCTCCAAC	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.417C>T	8.37:g.37686785C>T		57	2		79	17	NM_032777	0	0	0	0	0	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	CCDS6097.2																																																																																			.		0.597	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2		
TGS1	96764	bcgsc.ca	37	8	56705325	56705325	+	Missense_Mutation	SNP	A	A	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr8:56705325A>T	ENST00000260129.5	+	6	1826	c.1349A>T	c.(1348-1350)aAg>aTg	p.K450M		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	450					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CTAGGATTCAAGTATGGCTCA	0.373																																					p.K450M	Esophageal Squamous(34;275 823 4842 34837 48447)	.											.	TGS1-227	0			c.A1349T						.						123.0	117.0	119.0					8																	56705325		2203	4300	6503	SO:0001583	missense	96764	exon6			GATTCAAGTATGG	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.1349A>T	8.37:g.56705325A>T	ENSP00000260129:p.Lys450Met	60	0		55	4	NM_024831	0	0	0	0	0	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.021903	0.75275	.	.	ENSG00000137574	ENST00000260129	T	0.52754	0.65	6.07	3.57	0.40892	.	0.553053	0.21121	N	0.079811	T	0.62282	0.2415	M	0.69823	2.125	0.36397	D	0.862856	D;D	0.69078	0.997;0.997	P;P	0.61070	0.883;0.873	T	0.69815	-0.5043	10	0.87932	D	0	-4.1483	11.3139	0.49379	0.757:0.0:0.0:0.243	.	450;450	B2RBJ7;Q96RS0	.;TGS1_HUMAN	M	450	ENSP00000260129:K450M	ENSP00000260129:K450M	K	+	2	0	TGS1	56867879	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	4.783000	0.62403	0.460000	0.27045	0.533000	0.62120	AAG	.		0.373	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831	
ZNF696	79943	hgsc.bcm.edu	37	8	144378868	144378868	+	Silent	SNP	A	A	G	rs7386259	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	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		27	9	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-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr8:144649625T>C	ENST00000398882.3	-	14	2200	c.1944A>G	c.(1942-1944)cgA>cgG	p.R648R	MROH6_ENST00000524906.1_5'UTR|MROH6_ENST00000532704.1_Intron|MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000533679.1_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		8	8	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	
PLEC	5339	hgsc.bcm.edu	37	8	145001588	145001588	+	Missense_Mutation	SNP	C	C	T	rs11136334	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr8:145001588C>T	ENST00000322810.4	-	27	4326	c.4157G>A	c.(4156-4158)cGg>cAg	p.R1386Q	PLEC_ENST00000357649.2_Missense_Mutation_p.R1253Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1235Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1276Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R1227Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1272Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R1217Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1249Q|PLEC_ENST00000354589.3_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	1	0		35	11	NM_201380	0	0	0	0	0	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	
PLEC	5339	hgsc.bcm.edu	37	8	145001784	145001784	+	Silent	SNP	A	A	G	rs3135109	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr8:145001784A>G	ENST00000322810.4	-	27	4130	c.3961T>C	c.(3961-3963)Ttg>Ctg	p.L1321L	PLEC_ENST00000357649.2_Silent_p.L1188L|PLEC_ENST00000356346.3_Silent_p.L1170L|PLEC_ENST00000436759.2_Silent_p.L1211L|PLEC_ENST00000354958.2_Silent_p.L1162L|PLEC_ENST00000527096.1_Silent_p.L1207L|PLEC_ENST00000398774.2_Silent_p.L1152L|PLEC_ENST00000345136.3_Silent_p.L1184L|PLEC_ENST00000354589.3_Silent_p.L1184L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1321	Globular 1.		L -> V (in dbSNP:rs3135109). {ECO:0000269|PubMed:8698233}.		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						CGCTCAAGCAACTGGGCGACC	0.716													G|||	1156	0.230831	0.028	0.2954	5008	,	,		12494	0.1429		0.4274	False		,,,				2504	0.3476				p.L1321L		.											.	PLEC-141	0			c.T3961C						.	G	,,,,,,,	296,3620		20,256,1682	5.0	6.0	6.0		3631,3508,3484,3961,3454,3550,3562,3550	4.4	0.9	8	dbSNP_103	6	2835,5065		532,1771,1647	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	,,,,,,,	552,2027,3329	GG,GA,AA		35.8861,7.5587,26.498	,,,,,,,	1211/4575,1170/4534,1162/4526,1321/4685,1152/4516,1184/4548,1188/4552,1184/4548	145001784	3131,8685	1958	3950	5908	SO:0001819	synonymous_variant	5339	exon27			CAAGCAACTGGGC	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.3961T>C	8.37:g.145001784A>G		0	0		23	5	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.246;A|0.754		0.716	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-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr8:146033347T>C	ENST00000531720.1	+	4	1091	c.1046T>C	c.(1045-1047)gTg>gCg	p.V349A	ZNF517_ENST00000359971.3_Missense_Mutation_p.V349A|ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_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		10	10	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	
TPD52L3	89882	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	6328653	6328653	+	Missense_Mutation	SNP	G	G	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr9:6328653G>C	ENST00000344545.5	+	1	305	c.58G>C	c.(58-60)Gaa>Caa	p.E20Q	TPD52L3_ENST00000314556.3_Missense_Mutation_p.E20Q|TPD52L3_ENST00000381428.1_Missense_Mutation_p.E20Q	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	20										large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		CTCGACTTCTGAACTGGAGGA	0.493																																					p.E20Q		.											.	TPD52L3-68	0			c.G58C						.						87.0	88.0	88.0					9																	6328653		2203	4300	6503	SO:0001583	missense	89882	exon1			ACTTCTGAACTGG	AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518	ENST00000344545.5:c.58G>C	9.37:g.6328653G>C	ENSP00000341677:p.Glu20Gln	83	0		85	15	NM_033516	0	0	0	0	0	Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Missense_Mutation	SNP	ENST00000344545.5	37	CCDS34986.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683352	0.29872	.	.	ENSG00000170777	ENST00000344545;ENST00000381428;ENST00000314556	T;T;T	0.24723	1.84;1.84;1.84	4.74	-1.67	0.08238	.	0.876631	0.09954	N	0.734251	T	0.17152	0.0412	L	0.43152	1.355	0.09310	N	1	B;B;B	0.24768	0.019;0.111;0.043	B;B;B	0.24541	0.032;0.054;0.032	T	0.35226	-0.9797	10	0.18276	T	0.48	-25.866	5.4762	0.16697	0.3868:0.1365:0.4767:0.0	.	20;20;20	Q96J77-2;Q96J77;Q96J77-3	.;TPD55_HUMAN;.	Q	20	ENSP00000341677:E20Q;ENSP00000370836:E20Q;ENSP00000318665:E20Q	ENSP00000318665:E20Q	E	+	1	0	TPD52L3	6318653	0.000000	0.05858	0.000000	0.03702	0.356000	0.29392	-0.573000	0.05874	-0.424000	0.07382	0.511000	0.50034	GAA	.		0.493	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051658.1	NM_033516	
VPS13A	23230	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	79933239	79933241	+	In_Frame_Del	DEL	CTA	CTA	-	rs371138709	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	CTA	CTA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr9:79933239_79933241delCTA	ENST00000360280.3	+	41	5305_5307	c.5045_5047delCTA	c.(5044-5049)tctact>tct	p.T1683del	VPS13A_ENST00000376634.4_In_Frame_Del_p.T1683del|VPS13A_ENST00000357409.5_In_Frame_Del_p.T1683del|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_In_Frame_Del_p.T1644del	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1683					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACGGCTTCTTCTACTGCACATTT	0.335																																					p.1682_1683del		.											.	VPS13A-161	0			c.5045_5047del						.																																			SO:0001651	inframe_deletion	23230	exon41			CTTCTTCTACTGC	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5045_5047delCTA	9.37:g.79933239_79933241delCTA	ENSP00000353422:p.Thr1683del	149	0		126	21	NM_001018038	0	0	0	0	0	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	In_Frame_Del	DEL	ENST00000360280.3	37	CCDS6655.1																																																																																			.		0.335	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
UBQLN1	29979	broad.mit.edu;bcgsc.ca	37	9	86294747	86294747	+	Missense_Mutation	SNP	C	C	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr9:86294747C>G	ENST00000376395.4	-	4	1177	c.654G>C	c.(652-654)ttG>ttC	p.L218F	UBQLN1_ENST00000257468.7_Missense_Mutation_p.L218F	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	218					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTCTCTGTATCAACTGCTGCA	0.363																																					p.L218F	Melanoma(186;1284 2073 12755 14558 18426)	.											.	UBQLN1-90	0			c.G654C						.						122.0	118.0	119.0					9																	86294747		2203	4300	6503	SO:0001583	missense	29979	exon4			CTGTATCAACTGC	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.654G>C	9.37:g.86294747C>G	ENSP00000365576:p.Leu218Phe	153	1		134	8	NM_053067	0	0	0	0	0	Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903973	0.72754	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	T;T	0.33216	1.42;1.42	5.37	3.14	0.36123	Heat shock chaperonin-binding (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000013	T	0.52435	0.1734	M	0.81179	2.53	0.53005	D	0.999962	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.981	T	0.54846	-0.8232	10	0.72032	D	0.01	.	7.8491	0.29444	0.1408:0.7138:0.0:0.1453	.	218;218	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	F	218	ENSP00000365576:L218F;ENSP00000257468:L218F	ENSP00000257468:L218F	L	-	3	2	UBQLN1	85484567	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.337000	0.52120	1.237000	0.43756	0.650000	0.86243	TTG	.		0.363	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438	
RMI1	80010	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	86616405	86616405	+	Missense_Mutation	SNP	G	G	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr9:86616405G>C	ENST00000325875.3	+	3	836	c.504G>C	c.(502-504)ttG>ttC	p.L168F		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	168					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CAAAAATTTTGATTTATGGAA	0.363																																					p.L168F		.											.	RMI1-90	0			c.G504C						.						55.0	57.0	56.0					9																	86616405		2203	4298	6501	SO:0001583	missense	80010	exon3			AATTTTGATTTAT	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.504G>C	9.37:g.86616405G>C	ENSP00000317039:p.Leu168Phe	57	0		52	7	NM_024945	0	0	0	0	0	Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582684	0.46006	.	.	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.57752	0.38;0.97	5.76	2.75	0.32379	.	0.223530	0.37857	N	0.001905	T	0.70124	0.3188	M	0.89904	3.07	0.36261	D	0.854527	D	0.71674	0.998	D	0.64776	0.929	T	0.76332	-0.2998	10	0.56958	D	0.05	0.4439	6.1957	0.20548	0.0723:0.1811:0.5662:0.1804	.	168	Q9H9A7	RMI1_HUMAN	F	168	ENSP00000402433:L168F;ENSP00000317039:L168F	ENSP00000317039:L168F	L	+	3	2	RMI1	85806225	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.231000	0.32624	1.545000	0.49373	0.650000	0.86243	TTG	.		0.363	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945	
FAM120A	23196	broad.mit.edu;ucsc.edu	37	9	96318860	96318860	+	Missense_Mutation	SNP	T	T	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr9:96318860T>C	ENST00000277165.6	+	13	2665	c.2471T>C	c.(2470-2472)cTc>cCc	p.L824P	FAM120A_ENST00000340893.4_Missense_Mutation_p.L824P|FAM120A_ENST00000333936.5_Missense_Mutation_p.L852P	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	824						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTCATTGACCTCTGTGATGGT	0.468																																					p.L824P		.											.	FAM120A-90	0			c.T2471C						.						102.0	107.0	106.0					9																	96318860		2203	4300	6503	SO:0001583	missense	23196	exon13			TTGACCTCTGTGA	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2471T>C	9.37:g.96318860T>C	ENSP00000277165:p.Leu824Pro	62	1		75	9	NM_014612	0	0	0	0	0	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505063	0.85282	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.65178	0.36;0.38;0.27;-0.14	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000002	T	0.75421	0.3847	L	0.52011	1.625	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.974;0.999;0.999	T	0.77515	-0.2559	10	0.87932	D	0	-18.0598	16.3648	0.83312	0.0:0.0:0.0:1.0	.	824;852;824	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	P	824;852;824;246	ENSP00000277165:L824P;ENSP00000334918:L852P;ENSP00000344698:L824P;ENSP00000412440:L246P	ENSP00000277165:L824P	L	+	2	0	FAM120A	95358681	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.015000	0.88690	2.263000	0.75096	0.533000	0.62120	CTC	.		0.468	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612	
SVEP1	79987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	113169657	113169657	+	Silent	SNP	A	A	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr9:113169657A>G	ENST00000401783.2	-	38	8559	c.8223T>C	c.(8221-8223)taT>taC	p.Y2741Y	SVEP1_ENST00000374469.1_Silent_p.Y2718Y|SVEP1_ENST00000297826.5_Silent_p.Y667Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2741	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTTTACAGCTATACTGCACAG	0.463																																					p.Y2741Y		.											.	SVEP1-75	0			c.T8223C						.						84.0	87.0	86.0					9																	113169657		1983	4160	6143	SO:0001819	synonymous_variant	79987	exon38			ACAGCTATACTGC	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8223T>C	9.37:g.113169657A>G		118	0		177	29	NM_153366	0	0	0	0	0	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	CCDS48004.1																																																																																			.		0.463	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
FPGS	2356	broad.mit.edu;bcgsc.ca	37	9	130572350	130572350	+	Missense_Mutation	SNP	G	G	A			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr9:130572350G>A	ENST00000373247.2	+	13	1302	c.1252G>A	c.(1252-1254)Gac>Aac	p.D418N	FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_Silent_p.G368G|FPGS_ENST00000393706.2_Missense_Mutation_p.D392N|FPGS_ENST00000373225.3_Missense_Mutation_p.D368N	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	418					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	TGCTACCGGGGACCGGGACCC	0.677																																					p.D418N		.											.	FPGS-90	0			c.G1252A						.						25.0	27.0	26.0					9																	130572350		2202	4300	6502	SO:0001583	missense	2356	exon13			ACCGGGGACCGGG		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.1252G>A	9.37:g.130572350G>A	ENSP00000362344:p.Asp418Asn	114	1		275	57	NM_004957	0	0	0	0	0	B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078829	0.55753	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.53857	0.6;0.6;0.6	4.9	4.9	0.64082	Mur ligase, C-terminal (2);	0.226284	0.45867	D	0.000326	T	0.53110	0.1776	M	0.63843	1.955	0.80722	D	1	P;B	0.35383	0.498;0.317	B;B	0.36666	0.23;0.177	T	0.54483	-0.8287	10	0.34782	T	0.22	-18.8052	17.0455	0.86501	0.0:0.0:1.0:0.0	.	392;418	Q05932-4;Q05932	.;FOLC_HUMAN	N	418;392;368	ENSP00000362344:D418N;ENSP00000377309:D392N;ENSP00000362322:D368N	ENSP00000362322:D368N	D	+	1	0	FPGS	129612171	1.000000	0.71417	0.995000	0.50966	0.217000	0.24651	6.859000	0.75467	2.275000	0.75901	0.455000	0.32223	GAC	.		0.677	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1		
COL5A1	1289	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	137704528	137704528	+	Silent	SNP	A	A	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr9:137704528A>T	ENST00000371817.3	+	48	4236	c.3822A>T	c.(3820-3822)ggA>ggT	p.G1274G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1274	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCAGGTGGAATAGGAAACC	0.627																																					p.G1274G		.											.	COL5A1-524	0			c.A3822T						.						27.0	25.0	26.0					9																	137704528		2200	4296	6496	SO:0001819	synonymous_variant	1289	exon48			AGGTGGAATAGGA	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3822A>T	9.37:g.137704528A>T		91	1		131	33	NM_000093	0	0	0	0	0	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																			.		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
NOXA1	10811	hgsc.bcm.edu	37	9	140317999	140317999	+	Missense_Mutation	SNP	C	C	G	rs112864733	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr9:140317999C>G	ENST00000341349.2	+	1	198	c.18C>G	c.(16-18)gaC>gaG	p.D6E	EXD3_ENST00000340951.4_5'Flank|EXD3_ENST00000475006.1_5'Flank|EXD3_ENST00000342129.4_5'Flank|NOXA1_ENST00000392815.2_Missense_Mutation_p.D6E|EXD3_ENST00000479452.1_5'Flank|snoU13_ENST00000606918.1_RNA|EXD3_ENST00000465160.2_5'Flank	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	6	Mediates interaction with RAC1.				positive regulation of catalytic activity (GO:0043085)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|Rac GTPase binding (GO:0048365)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CTCTGGGGGACCTGGTGCGCG	0.811													c|||	278	0.0555112	0.0401	0.049	5008	,	,		6061	0.005		0.1213	False		,,,				2504	0.0654				p.D6E		.											.	NOXA1-90	0			c.C18G						.		GLU/ASP	116,3312		1,114,1599	4.0	5.0	5.0		18	-2.8	0.8	9	dbSNP_132	5	595,6781		18,559,3111	no	missense	NOXA1	NM_006647.1	45	19,673,4710	GG,GC,CC		8.0667,3.3839,6.5809	probably-damaging	6/484	140317999	711,10093	1714	3688	5402	SO:0001583	missense	10811	exon1			GGGGGACCTGGTG	AF039697	CCDS7042.1, CCDS59157.1	9q34.3	2013-09-20	2002-12-09	2002-12-13	ENSG00000188747	ENSG00000188747			10668	protein-coding gene	gene with protein product		611255	"""serologically defined colon cancer antigen 31"""	SDCCAG31		9610721	Standard	NM_001256067		Approved	NY-CO-31, FLJ25475	uc004cmu.3	Q86UR1	OTTHUMG00000131781	ENST00000341349.2:c.18C>G	9.37:g.140317999C>G	ENSP00000342848:p.Asp6Glu	0	0		14	4	NM_006647	0	0	0	0	0	O60533|Q29VU9|Q29VV0|Q2TAM1|Q8IUS3	Missense_Mutation	SNP	ENST00000341349.2	37	CCDS7042.1	143	0.06547619047619048	20	0.04065040650406504	22	0.06077348066298342	4	0.006993006993006993	97	0.1279683377308707	c	14.61	2.587081	0.46110	0.033839	0.080667	ENSG00000188747	ENST00000341349;ENST00000392815	D;D	0.86627	-1.91;-2.15	4.24	-2.81	0.05805	.	0.176261	0.47455	D	0.000234	T	0.02230	0.0069	L	0.27053	0.805	0.58432	P	2.9999999999752447E-6	P;B;B	0.48230	0.907;0.24;0.201	P;B;B	0.48795	0.59;0.05;0.094	T	0.64118	-0.6482	9	0.02654	T	1	.	5.957	0.19279	0.0:0.3375:0.4365:0.2261	.	6;6;6	Q86UR1-3;Q86UR1;Q86UR1-2	.;NOXA1_HUMAN;.	E	6	ENSP00000342848:D6E;ENSP00000376562:D6E	ENSP00000342848:D6E	D	+	3	2	NOXA1	139437820	0.486000	0.25980	0.844000	0.33320	0.587000	0.36485	-0.046000	0.11983	-0.407000	0.07576	0.387000	0.25754	GAC	C|0.934;G|0.066		0.811	NOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254713.1		
VCX	26609	bcgsc.ca	37	X	7811812	7811812	+	Missense_Mutation	SNP	C	C	G	rs144779201		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chrX:7811812C>G	ENST00000381059.3	+	3	595	c.376C>G	c.(376-378)Cag>Gag	p.Q126E	VCX_ENST00000341408.4_Intron	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	126	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization (GO:0006325)|ribosome assembly (GO:0042255)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				ACCACTGAGTCAGGAGAGCCA	0.617																																					p.Q126E		.											.	VCX-22	0			c.C376G						.						33.0	43.0	39.0					X																	7811812		1478	3106	4584	SO:0001583	missense	26609	exon3			CTGAGTCAGGAGA	AF167081	CCDS14128.1	Xp22.31	2008-02-05	2003-09-12		ENSG00000182583	ENSG00000182583			12667	protein-coding gene	gene with protein product		300229	"""variable charge, X chromosome"""			10607842, 10903929	Standard	NM_013452		Approved	VCX1, VCX10R, VCX-10r, VCX-B1	uc004crz.3	Q9H320	OTTHUMG00000028608	ENST00000381059.3:c.376C>G	X.37:g.7811812C>G	ENSP00000370447:p.Gln126Glu	200	0		147	7	NM_013452	0	0	0	0	0	A0JNS5|Q4V774|Q9P0H3	Missense_Mutation	SNP	ENST00000381059.3	37	CCDS14128.1	.	.	.	.	.	.	.	.	.	.	-	0.010	-1.794547	0.00617	.	.	ENSG00000182583	ENST00000381059	T	0.18657	2.2	.	.	.	.	.	.	.	.	T	0.09598	0.0236	N	0.24115	0.695	0.80722	D	1	P	0.45594	0.862	B	0.40702	0.338	T	0.34030	-0.9845	8	0.02654	T	1	.	5.8616	0.18752	0.0:0.9991:0.0:9.0E-4	.	126	Q9H320	VCX1_HUMAN	E	126	ENSP00000370447:Q126E	ENSP00000370447:Q126E	Q	+	1	0	VCX	7771812	0.000000	0.05858	0.064000	0.19789	0.064000	0.16182	-4.355000	0.00247	0.068000	0.16574	0.068000	0.15388	CAG	C|0.996;G|0.004		0.617	VCX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071474.1	NM_013452	
MAGEE2	139599	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	75003782	75003782	+	Missense_Mutation	SNP	T	T	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chrX:75003782T>G	ENST00000373359.2	-	1	1297	c.1105A>C	c.(1105-1107)Att>Ctt	p.I369L		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	369	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCAACCTCAATCAGAGACAAC	0.453																																					p.I369L		.											.	MAGEE2-132	0			c.A1105C						.						97.0	79.0	85.0					X																	75003782		2203	4300	6503	SO:0001583	missense	139599	exon1			CCTCAATCAGAGA	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1105A>C	X.37:g.75003782T>G	ENSP00000362457:p.Ile369Leu	79	0		53	11	NM_138703	0	0	0	0	0	Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	T	9.938	1.216583	0.22373	.	.	ENSG00000186675	ENST00000373359	T	0.04603	3.59	3.18	3.18	0.36537	.	.	.	.	.	T	0.10165	0.0249	L	0.41492	1.28	0.26640	N	0.972308	P	0.52463	0.953	D	0.65443	0.935	T	0.22452	-1.0216	9	0.18710	T	0.47	.	7.1074	0.25370	0.0:0.0:0.0:1.0	.	369	Q8TD90	MAGE2_HUMAN	L	369	ENSP00000362457:I369L	ENSP00000362457:I369L	I	-	1	0	MAGEE2	74920507	1.000000	0.71417	0.986000	0.45419	0.557000	0.35523	2.128000	0.42045	1.485000	0.48380	0.345000	0.21793	ATT	.		0.453	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703	
VSIG1	340547	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	107320488	107320488	+	Missense_Mutation	SNP	G	G	C			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chrX:107320488G>C	ENST00000217957.5	+	7	1158	c.1041G>C	c.(1039-1041)gaG>gaC	p.E347D	VSIG1_ENST00000415430.3_Missense_Mutation_p.E383D	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	347						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						TTGACATCGAGCTGGAGCTGG	0.577																																					p.E383D		.											.	VSIG1-132	0			c.G1149C						.						74.0	69.0	70.0					X																	107320488		2203	4300	6503	SO:0001583	missense	340547	exon8			CATCGAGCTGGAG	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.1041G>C	X.37:g.107320488G>C	ENSP00000217957:p.Glu347Asp	176	0		112	36	NM_001170553	0	0	0	0	0	C9J4P2|Q6MZS4	Missense_Mutation	SNP	ENST00000217957.5	37	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851630	0.32699	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.42900	0.96;0.96	3.99	-2.8	0.05823	.	1.809900	0.02838	N	0.127647	T	0.29389	0.0732	L	0.42245	1.32	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.04693	-1.0933	10	0.15499	T	0.54	.	2.2228	0.03977	0.2063:0.4312:0.2152:0.1473	.	383;347	C9J4P2;Q86XK7	.;VSIG1_HUMAN	D	383;347	ENSP00000402219:E383D;ENSP00000217957:E347D	ENSP00000217957:E347D	E	+	3	2	VSIG1	107207144	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-0.657000	0.05335	-0.837000	0.04223	0.513000	0.50165	GAG	.		0.577	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607	
RHOXF1	158800	broad.mit.edu;ucsc.edu	37	X	119249707	119249707	+	Missense_Mutation	SNP	G	G	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chrX:119249707G>T	ENST00000217999.2	-	1	140	c.66C>A	c.(64-66)agC>agA	p.S22R	RP4-755D9.1_ENST00000553843.1_RNA|GS1-421I3.4_ENST00000422226.1_lincRNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	22					gamete generation (GO:0007276)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|sexual reproduction (GO:0019953)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GAGGTGTGGGGCTTATTTTTA	0.597																																					p.S22R		.											.	RHOXF1-130	0			c.C66A						.						43.0	40.0	41.0					X																	119249707		2201	4298	6499	SO:0001583	missense	158800	exon1			TGTGGGGCTTATT		CCDS14593.1	Xq24	2011-06-20			ENSG00000101883	ENSG00000101883		"""Homeoboxes / PRD class"""	29993	protein-coding gene	gene with protein product		300446				11980563, 12490318	Standard	NM_139282		Approved	OTEX, PEPP1	uc004esk.2	Q8NHV9	OTTHUMG00000022290	ENST00000217999.2:c.66C>A	X.37:g.119249707G>T	ENSP00000217999:p.Ser22Arg	36	0		41	5	NM_139282	0	0	0	0	0	O95030|Q3SYE0	Missense_Mutation	SNP	ENST00000217999.2	37	CCDS14593.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-2.896692	0.00059	.	.	ENSG00000101883	ENST00000217999	D	0.89746	-2.56	2.02	-4.05	0.03998	.	.	.	.	.	T	0.68952	0.3057	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41574	-0.9501	9	0.30854	T	0.27	0.7631	1.3128	0.02101	0.1908:0.3994:0.1226:0.2872	.	22	Q8NHV9	RHXF1_HUMAN	R	22	ENSP00000217999:S22R	ENSP00000217999:S22R	S	-	3	2	RHOXF1	119133735	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.233000	0.00547	-4.355000	0.00054	-2.286000	0.00268	AGC	.		0.597	RHOXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058083.2	NM_139282	
DCAF12L1	139170	hgsc.bcm.edu;broad.mit.edu	37	X	125685583	125685583	+	Missense_Mutation	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chrX:125685583C>T	ENST00000371126.1	-	1	1251	c.1009G>A	c.(1009-1011)Gac>Aac	p.D337N		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	337										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TTCTGCTGGTCCTGGCGCAGA	0.602																																					p.D337N		.											.	DCAF12L1-132	0			c.G1009A						.						49.0	47.0	47.0					X																	125685583		2203	4300	6503	SO:0001583	missense	139170	exon1			GCTGGTCCTGGCG	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1009G>A	X.37:g.125685583C>T	ENSP00000360167:p.Asp337Asn	223	0		180	11	NM_178470	0	0	0	0	0	Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	4.025	0.002104	0.07819	.	.	ENSG00000198889	ENST00000371126	T	0.62364	0.03	3.64	-1.73	0.08081	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.307940	0.05630	N	0.581517	T	0.42154	0.1190	N	0.08118	0	0.09310	N	1	B	0.21520	0.057	B	0.15870	0.014	T	0.26155	-1.0111	10	0.37606	T	0.19	.	12.2471	0.54576	0.0:0.1711:0.7265:0.1024	.	337	Q5VU92	DC121_HUMAN	N	337	ENSP00000360167:D337N	ENSP00000360167:D337N	D	-	1	0	DCAF12L1	125513264	0.292000	0.24362	0.000000	0.03702	0.434000	0.31775	0.939000	0.28978	-0.540000	0.06265	0.429000	0.28392	GAC	.		0.602	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470	
DCAF12L1	139170	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	125685622	125685622	+	Missense_Mutation	SNP	C	C	T			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chrX:125685622C>T	ENST00000371126.1	-	1	1212	c.970G>A	c.(970-972)Ggc>Agc	p.G324S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	324										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GAATGGGAGCCCACGGCGTAC	0.607																																					p.G324S		.											.	DCAF12L1-132	0			c.G970A						.						61.0	55.0	57.0					X																	125685622		2203	4300	6503	SO:0001583	missense	139170	exon1			GGGAGCCCACGGC	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.970G>A	X.37:g.125685622C>T	ENSP00000360167:p.Gly324Ser	285	0		268	18	NM_178470	0	0	0	0	0	Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101002	0.56183	.	.	ENSG00000198889	ENST00000371126	T	0.68479	-0.33	3.64	3.64	0.41730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.36778	N	0.002416	T	0.81322	0.4798	M	0.83384	2.64	0.46131	D	0.998882	D	0.89917	1.0	D	0.91635	0.999	D	0.83990	0.0337	10	0.66056	D	0.02	.	12.4843	0.55863	0.0:1.0:0.0:0.0	.	324	Q5VU92	DC121_HUMAN	S	324	ENSP00000360167:G324S	ENSP00000360167:G324S	G	-	1	0	DCAF12L1	125513303	1.000000	0.71417	0.994000	0.49952	0.143000	0.21401	6.262000	0.72514	2.098000	0.63641	0.429000	0.28392	GGC	.		0.607	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470	
GPC3	2719	hgsc.bcm.edu;bcgsc.ca	37	X	132730533	132730535	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	TCT	TCT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chrX:132730533_132730535delTCT	ENST00000370818.3	-	7	1951_1953	c.1506_1508delAGA	c.(1504-1509)gaagat>gat	p.E502del	GPC3_ENST00000394299.2_In_Frame_Del_p.E525del|GPC3_ENST00000543339.1_In_Frame_Del_p.E448del	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	502					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AATGCACTCATCTTCATCATCAC	0.443			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																												p.525_526del		.	yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	.	GPC3-847	0			c.1575_1577del						.																																			SO:0001651	inframe_deletion	2719	exon8	Familial Cancer Database	SGBS	CACTCATCTTCAT	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1506_1508delAGA	X.37:g.132730533_132730535delTCT	ENSP00000359854:p.Glu502del	396	1		269	62	NM_001164617	0	0	0	0	0	C9JLE3|G3V1R0|Q2L880|Q2L882	In_Frame_Del	DEL	ENST00000370818.3	37	CCDS14638.1																																																																																			.		0.443	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484	
PLXNA3	55558	broad.mit.edu	37	X	153689643	153689643	+	Missense_Mutation	SNP	G	G	A	rs145244142	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chrX:153689643G>A	ENST00000369682.3	+	3	974	c.799G>A	c.(799-801)Gcg>Acg	p.A267T		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	267	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGCATGTGCGCGGGAGACTC	0.607																																					p.A267T		.											.	PLXNA3-132	0			c.G799A						.	G	THR/ALA	3,3832		0,3,1629,571	95.0	88.0	90.0		799	3.5	0.0	X	dbSNP_134	90	2,6726		0,2,2426,1872	yes	missense	PLXNA3	NM_017514.3	58	0,5,4055,2443	AA,AG,GG,G		0.0297,0.0782,0.0473	benign	267/1872	153689643	5,10558	2203	4300	6503	SO:0001583	missense	55558	exon3			ATGTGCGCGGGAG	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.799G>A	X.37:g.153689643G>A	ENSP00000358696:p.Ala267Thr	85	0		233	6	NM_017514	0	0	0	0	0	Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	8.118	0.780273	0.16120	7.82E-4	2.97E-4	ENSG00000130827	ENST00000369682	T	0.10960	2.82	5.29	3.5	0.40072	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.124679	0.56097	D	0.000036	T	0.08133	0.0203	L	0.43152	1.355	0.23816	N	0.996762	B	0.24258	0.1	B	0.26202	0.067	T	0.40534	-0.9558	10	0.09338	T	0.73	.	6.5277	0.22310	0.087:0.0:0.5809:0.3321	.	267	P51805	PLXA3_HUMAN	T	267	ENSP00000358696:A267T	ENSP00000358696:A267T	A	+	1	0	PLXNA3	153342837	0.000000	0.05858	0.019000	0.16419	0.256000	0.26092	0.639000	0.24690	0.584000	0.29591	0.594000	0.82650	GCG	G|0.999;A|0.001		0.607	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514	
CELSR2	1952	hgsc.bcm.edu	37	1	109792735	109792736	+	In_Frame_Ins	INS	-	-	CGC	rs377757908|rs59201433|rs144034706	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:109792735_109792736insCGC	ENST00000271332.3	+	1	95_96	c.34_35insCGC	c.(34-36)acg>aCGCcg	p.16_17insP		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	16					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCCCTCCCAACgccgccgccg	0.752														2846	0.568291	0.4198	0.6311	5008	,	,		10222	0.5298		0.7276	False		,,,				2504	0.6002				p.T12delinsTP	NSCLC(158;1285 2011 34800 34852 42084)	.											.	CELSR2-526	0			c.34_35insCGC						.			1363,1439		473,417,511						3.0	0.1		dbSNP_130	6	4135,1897		1679,777,560	no	coding	CELSR2	NM_001408.2		2152,1194,1071	A1A1,A1R,RR		31.4489,48.6438,37.7632				5498,3336				SO:0001652	inframe_insertion	1952	exon1			CTCCCAACGCCGC	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.47_49dupCGC	1.37:g.109792742_109792744dupCGC	ENSP00000271332:p.Pro16_Pro16dup	3	2		20	19	NM_001408	0	0	0	0	0	Q5T2Y7|Q92566	In_Frame_Ins	INS	ENST00000271332.3	37	CCDS796.1																																																																																			-|0.389;CGC|0.611		0.752	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408	
CRTC1	23373	broad.mit.edu	37	19	18856713	18856714	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:18856713_18856714insG	ENST00000321949.8	+	3	350_351	c.324_325insG	c.(325-327)ggcfs	p.G109fs	CRTC1_ENST00000601916.1_Frame_Shift_Ins_p.G34fs|CRTC1_ENST00000594658.1_Frame_Shift_Ins_p.G68fs|CRTC1_ENST00000338797.6_Frame_Shift_Ins_p.G125fs	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						ACCGGGAGCGTGGCCGGCTCGG	0.678																																					p.R124fs		.											.	CRTC1-1361	0			c.372_373insG						.																																			SO:0001589	frameshift_variant	23373	exon4			GGAGCGTGGCCGG	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.326dupG	19.37:g.18856715_18856715dupG	ENSP00000323332:p.Gly109fs	66	0		351	10	NM_001098482	0	0	0	0	0		Frame_Shift_Ins	INS	ENST00000321949.8	37	CCDS32963.1																																																																																			.		0.678	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021	
LYPD5	284348	broad.mit.edu	37	19	44302693	44302694	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:44302693_44302694insCC	ENST00000377950.3	-	4	510_511	c.430_431insGG	c.(430-432)gatfs	p.D144fs	AC115522.3_ENST00000595680.1_lincRNA|LYPD5_ENST00000414615.2_Frame_Shift_Ins_p.D101fs|LYPD5_ENST00000594013.1_Frame_Shift_Ins_p.D101fs	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	144	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				AGCGCAGTCATCCTGGTGGACC	0.634																																					p.D144fs		.											.	LYPD5-90	0			c.431_432insGG						.																																			SO:0001589	frameshift_variant	284348	exon4			CAGTCATCCTGGT	AK055031	CCDS12631.1, CCDS46096.1	19q13.31	2008-02-05				ENSG00000159871			26397	protein-coding gene	gene with protein product						12477932	Standard	NM_182573		Approved	FLJ30469	uc002oxm.4	Q6UWN5		ENST00000377950.3:c.429_430dupGG	19.37:g.44302694_44302695dupCC	ENSP00000367185:p.Asp144fs	45	0		95	11	NM_001031749	0	0	0	0	0	Q6PEX9|Q96DR2	Frame_Shift_Ins	INS	ENST00000377950.3	37	CCDS46096.1																																																																																			.		0.634	LYPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463611.1	NM_182573	
SBK2	646643	hgsc.bcm.edu	37	19	56041209	56041210	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:56041209_56041210insG	ENST00000413299.1	-	4	974_975	c.937_938insC	c.(937-939)cgafs	p.R313fs	SBK2_ENST00000344158.3_Frame_Shift_Ins_p.R313fs	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	313	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R313Q(2)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCTCCTCCTTCGGGGGTGAGGG	0.757																																					p.R313fs		.											.	SBK2-68	2	Substitution - Missense(2)	skin(2)	c.938_939insC						.																																			SO:0001589	frameshift_variant	646643	exon4			CTCCTTCGGGGGT		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.938dupC	19.37:g.56041214_56041214dupG	ENSP00000389015:p.Arg313fs	8	2		58	19	NM_001101401	0	0	0	0	0		Frame_Shift_Ins	INS	ENST00000413299.1	37	CCDS42631.1																																																																																			.		0.757	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401	
NFIA	4774	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	61554105	61554106	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	TC	TC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:61554105_61554106TC>AT	ENST00000403491.3	+	2	796_797	c.312_313TC>AT	c.(310-315)gtTCtt>gtATtt	p.L105F	NFIA_ENST00000485903.2_Missense_Mutation_p.L105F|NFIA_ENST00000479364.1_Intron|NFIA_ENST00000407417.3_Missense_Mutation_p.L97F|NFIA_ENST00000371191.1_Missense_Mutation_p.L128F|NFIA_ENST00000371189.4_Missense_Mutation_p.L150F|NFIA_ENST00000371184.2_Missense_Mutation_p.L105F|NFIA_ENST00000371187.3_Missense_Mutation_p.L105F|NFIA_ENST00000371185.2_Missense_Mutation_p.L105F	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	105					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CATGTTGTGTTCTTTCCAACCC	0.455																																					p.L150F		.											.	NFIA-92	0			c.C448T						.																																			SO:0001583	missense	4774	exon3			TGTGTTCTTTCCA	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	Exception_encountered	1.37:g.61554105_61554106delinsAT	ENSP00000384523:p.Leu105Phe	198	0		143	0	NM_001145512	0	0	0	0	0	B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	DNP	ENST00000403491.3	37	CCDS44156.1																																																																																			.		0.455	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595	
ZNF814	730051	hgsc.bcm.edu	37	19	58385798	58385799	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:58385798_58385799CC>TT	ENST00000435989.2	-	3	1193_1194	c.959_960GG>AA	c.(958-960)gGG>gAA	p.G320E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	320					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G320E(1)|p.G320G(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AAGGTCTTTTCCCAGTGTGAAC	0.356																																					p.G320E		.											.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	central_nervous_system(2)	c.G959A						.																																			SO:0001583	missense	730051	exon3			CTTTTCCCAGTGT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.959_960delinsTT	19.37:g.58385798_58385799delinsTT	ENSP00000410545:p.Gly320Glu	35	0		100	7	NM_001144989	0	0	0	0	0	A6NF35	Missense_Mutation	DNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.		0.356	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
SSPO	23145	hgsc.bcm.edu	37	7	149476671	149476672	+	RNA	DNP	TG	TG	CT	rs201032059		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr7:149476671_149476672TG>CT	ENST00000378016.2	+	0	1121_1122							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGACAGCCCCTGGGGCTCATAG	0.619																																					.		.											.	.	0			c.G1122T						.																																					23145	exon10			GCCCCTGGGGCTC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884	Exception_encountered	7.37:g.149476671_149476672delinsCT		180	0		313	0	NM_198455	0	0	0	0	0	Q76B61	Silent	DNP	ENST00000378016.2	37																																																																																				.		0.619	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
